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
XIRP2	129446	broad.mit.edu	37	2	168100378	168100378	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:168100378G>T	ENST00000409195.1	+	9	2565	c.2476G>T	c.(2476-2478)Gtc>Ttc	p.V826F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V826F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V604F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	651					actin cytoskeleton organization	cell junction	actin binding	p.V826F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCAGAAGAGGTCATCATTGA	0.393000													5	80					1.23904e-05	1.61669e-05	0.184627	1	0
PRSS1	5644	broad.mit.edu	37	7	142458454	142458454	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:142458454G>A	ENST00000486171.1	+	2	106	c.89G>A	c.(88-90)tGt>tAt	p.C30Y	PRSS1_ENST00000311737.7_Missense_Mutation_p.C30Y			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	30	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.C30Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGCTACAACTGTGAGGAGAAT	0.537000													15	127					0	0	0.539581	0	0
GPC5	2262	broad.mit.edu	37	13	93518549	93518549	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr13:93518549A>T	ENST00000377067.3	+	8	1948	c.1576A>T	c.(1576-1578)Atg>Ttg	p.M526L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	526						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.M526L(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCCAGATGATATGAACTTCAG	0.423000													5	51					0	0	0.184627	0	0
C1R	715	broad.mit.edu	37	12	7188193	7188193	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:7188193C>A	ENST00000542285.1	-	11	1754	c.1605G>T	c.(1603-1605)ctG>ctT	p.L535L				P00736	C1R_HUMAN	complement component 1, r subcomponent	587	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.L550L(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	CCATCAAGCCCAGGTCGTAGA	0.572000													3	17					0.115264	0.120647	0.115264	1	0
IL1A	3552	broad.mit.edu	37	2	113532837	113532837	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:113532837G>C	ENST00000263339.3	-	7	778	c.623C>G	c.(622-624)cCt>cGt	p.P208R		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	208					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	p.P208R(1)		breast(2)|large_intestine(1)|lung(9)	12						GGGTATCTCAGGCATCTCCTA	0.428000													13	56					0	0	0.411799	0	0
BRINP1	1620	broad.mit.edu	37	9	122004412	122004412	+	Silent	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:122004412C>G	ENST00000265922.3	-	4	953	c.492G>C	c.(490-492)ctG>ctC	p.L164L	DBC1_ENST00000373964.2_Silent_p.L164L	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		164	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding	p.L164L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CGAGCTGGTGCAGAGCTTCAA	0.502000													15	51					0	0	0.520397	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69043458	69043458	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:69043458C>T	ENST00000295381.3	+	7	1261	c.842C>T	c.(841-843)cCt>cTt	p.P281L	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P282L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P275L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P275L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P242L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P274L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	281	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P282L(1)|p.P275L(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCCATCCTTCCTCGTGACAAC	0.478000													5	54					0	0	0.184627	0	0
C1orf95	375057	broad.mit.edu	37	1	226784561	226784561	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:226784561G>T	ENST00000366789.4	+	2	366	c.261G>T	c.(259-261)agG>agT	p.R87S	C1orf95_ENST00000366788.3_Missense_Mutation_p.R87S			Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	87						integral to membrane		p.R87S(1)		large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		TCCCGGACAGGCATGTGTGCT	0.612000													23	120					2.12542e-12	3.25214e-12	0.706142	1	0
KIAA1715	80856	broad.mit.edu	37	2	176794757	176794757	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:176794757C>G	ENST00000272748.4	-	13	1472	c.1225G>C	c.(1225-1227)Gtt>Ctt	p.V409L	KIAA1715_ENST00000544803.1_Missense_Mutation_p.V440L|KIAA1715_ENST00000535310.1_3'UTR	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	409						integral to membrane	protein binding	p.V409L(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			GCTCCAGGAACTGTGGAGTTG	0.433000													15	77					0	0	0.500413	0	0
LRFN5	145581	broad.mit.edu	37	14	42368149	42368149	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:42368149G>T	ENST00000298119.4	+	5	3317	c.2128G>T	c.(2128-2130)Gtc>Ttc	p.V710F	LRFN5_ENST00000554171.1_3'UTR|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	710						integral to membrane		p.V710F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGACCAGATTGTCCAGGAAAC	0.289000										HNSCC(30;0.082)			10	63					3.07112e-06	4.1056e-06	0.387290	1	0
EHHADH	1962	broad.mit.edu	37	3	184910174	184910174	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:184910174C>A	ENST00000231887.3	-	7	2087	c.2012G>T	c.(2011-2013)gGg>gTg	p.G671V	EHHADH_ENST00000456310.1_Missense_Mutation_p.G575V	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	671						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.G671V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGTGGGCAACCCAACTGTGGA	0.473000													13	49					2.27111e-07	3.19296e-07	0.411799	1	0
PRICKLE4	29964	broad.mit.edu	37	6	41753093	41753093	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:41753093C>A	ENST00000359201.5	+	5	986	c.397C>A	c.(397-399)Cca>Aca	p.P133T	PRICKLE4_ENST00000394259.1_Missense_Mutation_p.P93T|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.P93T|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.P133T|PRICKLE4_ENST00000463606.1_3'UTR|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.P133T			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	93	LIM zinc-binding 1.					nucleus	zinc ion binding	p.P133T(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTGCTGAAGCCAGGGGAGTA	0.602000													3	24					0.115264	0.120647	0.115264	1	0
NCKAP5	344148	broad.mit.edu	37	2	133541071	133541071	+	Silent	SNP	A	A	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:133541071A>G	ENST00000409261.1	-	14	3686	c.3313T>C	c.(3313-3315)Tta>Cta	p.L1105L	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.L1105L|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1105	Ser-rich.						protein binding	p.L1105L(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTACCCCTAAGAAGGAAGGC	0.498000													31	183					0	0	0.760397	0	0
CXXC11	285093	broad.mit.edu	37	2	242814287	242814287	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:242814287G>T	ENST00000343216.3	+	2	608	c.580G>T	c.(580-582)Gac>Tac	p.D194Y		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	194						integral to membrane		p.D194Y(1)									CCCTGGCGACGACCTTGGCAA	0.682000													5	21					0.000602214	0.000712558	0.184627	1	0
OVCH1	341350	broad.mit.edu	37	12	29596311	29596311	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:29596311G>T	ENST00000318184.5	-	25	3139	c.3140C>A	c.(3139-3141)cCa>cAa	p.P1047Q	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1047					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.P1047Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTTTTTTCCTGGTCCAAATCC	0.348000													17	102					5.3912e-06	7.10744e-06	0.539581	1	0
POM121L12	285877	broad.mit.edu	37	7	53104055	53104055	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:53104055C>A	ENST00000408890.4	+	1	707	c.691C>A	c.(691-693)Ccc>Acc	p.P231T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	231								p.P231T(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TTCCTTCGTGCCCAGGCCAGG	0.642000													11	39					1.58986e-06	2.15565e-06	0.361761	1	0
TAC4	255061	broad.mit.edu	37	17	47917224	47917224	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:47917224G>T	ENST00000334568.4	-	4	297	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	TAC4_ENST00000436235.1_Missense_Mutation_p.L94M|TAC4_ENST00000352793.2_Intron|TAC4_ENST00000326219.5_Intron|TAC4_ENST00000398154.1_Missense_Mutation_p.L83M	NM_170685.2	NP_733786.2	Q86UU9	TKN4_HUMAN	tachykinin 4 (hemokinin)	100					regulation of blood pressure	extracellular region		p.L100M(1)		breast(1)|large_intestine(1)|lung(3)	5						TCTGTGAACAGGCTTCTCTTG	0.577000													4	25					0.184627	0.187082	0.184627	1	0
IGHV3-64	28414	broad.mit.edu	37	14	107113822	107113822	+	RNA	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:107113822G>T	ENST00000454421.2	-	0	349																											AATTGTCTCTGGAGATGGTGA	0.483000													23	156					1.10923e-09	1.62545e-09	0.639603	1	0
SLC4A3	6508	broad.mit.edu	37	2	220502499	220502499	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:220502499G>C	ENST00000358055.3	+	17	3244	c.2732G>C	c.(2731-2733)cGc>cCc	p.R911P	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R938P|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R911P|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R911P|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R938P			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	911	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.R938P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTTCCTGCGCAAGTTCAGG	0.637000													4	41					0	0	0.217242	0	0
GGH	8836	broad.mit.edu	37	8	63927973	63927973	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:63927973T>A	ENST00000260118.6	-	9	1277	c.875A>T	c.(874-876)gAg>gTg	p.E292V		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	292	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	p.E292V(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TGCTTTCTCCTCTTCAGATTC	0.279000													4	36					0	0	0.184627	0	0
BCL2L14	79370	broad.mit.edu	37	12	12247496	12247496	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:12247496C>T	ENST00000266434.4	+	5	925	c.730C>T	c.(730-732)Cca>Tca	p.P244S	BCL2L14_ENST00000589718.1_Intron|BCL2L14_ENST00000396367.1_Intron|BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000586576.1_Intron|BCL2L14_ENST00000308721.5_Intron	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	237					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	p.P244S(1)		large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CCAGGGTTTTCCACAGGATGG	0.478000													9	32					0	0	0.335167	0	0
CAMTA1	23261	broad.mit.edu	37	1	7797473	7797473	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:7797473G>C	ENST00000303635.7	+	15	3708	c.3501G>C	c.(3499-3501)caG>caC	p.Q1167H	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Q1167H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.Q1167H(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGCACCTGCAGAGAGATGAGC	0.582000			T	WWTR1	epitheliod hemangioendothelioma								7	61					0	0	0.248553	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008792	142008792	+	RNA	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:142008792G>A	ENST00000390387.3	+	0	312																											TAAATCTCCAGACAAAGCTCA	0.408000													21	52					0	0	0.575678	0	0
PLCG2	5336	broad.mit.edu	37	16	81973536	81973536	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:81973536A>T	ENST00000359376.3	+	30	3567	c.3353A>T	c.(3352-3354)gAg>gTg	p.E1118V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1118	C2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.E1118V(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCAACACAGGAGAAGGTGACA	0.473000													8	76					0	0	0.278610	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33649002	33649002	+	Silent	SNP	G	G	T	rs111792611		TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:33649002G>T	ENST00000504830.1	-	9	1739	c.1404C>A	c.(1402-1404)ccC>ccA	p.P468P	ADAMTS12_ENST00000352040.3_Silent_p.P468P|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	468	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P468P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGATCACTCCGGGGGCAATGA	0.468000										HNSCC(64;0.19)			9	52					3.86212e-05	4.87241e-05	0.361761	1	0
IFT172	26160	broad.mit.edu	37	2	27707890	27707890	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:27707890T>G	ENST00000260570.3	-	3	394	c.291A>C	c.(289-291)gaA>gaC	p.E97D	IFT172_ENST00000416524.2_Missense_Mutation_p.E76D|IFT172_ENST00000359466.6_Missense_Mutation_p.E97D	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	97					cilium assembly	cilium	binding	p.E97D(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTCACCAATCTTCTCCAATCT	0.478000													16	83					0	0	0.500413	0	0
NID2	22795	broad.mit.edu	37	14	52508881	52508881	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:52508881C>A	ENST00000216286.5	-	7	1766	c.1767G>T	c.(1765-1767)ctG>ctT	p.L589L	NID2_ENST00000541773.1_Silent_p.L536L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	589	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.L589L(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCCAGCCAAACAGGCCTCCAA	0.577000													21	116					7.87624e-14	1.26618e-13	0.639603	1	0
ZNF16	7564	broad.mit.edu	37	8	146157289	146157289	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:146157289C>A	ENST00000276816.4	-	4	1070	c.884G>T	c.(883-885)tGt>tTt	p.C295F	ZNF16_ENST00000394909.2_Missense_Mutation_p.C295F	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C295F(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		ACATTCATTACACATATAAGG	0.473000													8	59					0.000157383	0.000192189	0.278610	1	0
KIF1A	547	broad.mit.edu	37	2	241724517	241724517	+	Splice_Site	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:241724517C>G	ENST00000498729.2	-	7	855	c.608_splice	c.e7-1	p.R203_splice	KIF1A_ENST00000320389.7_Splice_Site_p.R203_splice	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	203	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.R203S(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCGCCACGGTCCTGAGGAGCA	0.622000													5	76					0	0	0.184627	0	0
CDYL	9425	broad.mit.edu	37	6	4935956	4935956	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:4935956A>G	ENST00000328908.5	+	5	1192	c.1061A>G	c.(1060-1062)cAc>cGc	p.H354R	CDYL_ENST00000449732.2_Missense_Mutation_p.H168R|CDYL_ENST00000343762.5_Missense_Mutation_p.H168R|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.H300R			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	354					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.H354R(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGCTTCACCCACATCTTGTTA	0.512000													6	80					0	0	0.217242	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399398	89399398	+	RNA	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:89399398G>T	ENST00000479981.1	-	0	331																											AAAATCTTCAGGCTGCAGGCT	0.488000													25	82					3.90053e-15	6.40561e-15	0.760397	1	0
C8orf33	65265	broad.mit.edu	37	8	146278737	146278737	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:146278737C>G	ENST00000331434.6	+	4	572	c.458C>G	c.(457-459)cCc>cGc	p.P153R		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	153								p.P153R(1)		endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		ACGCCCTTGCCCCGGAAGAGG	0.537000													12	58					0	0	0.411799	0	0
FBF1	85302	broad.mit.edu	37	17	73921504	73921504	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:73921504C>T	ENST00000586717.1	-	12	1123	c.850G>A	c.(850-852)Gag>Aag	p.E284K	FBF1_ENST00000319129.5_Missense_Mutation_p.E284K|FBF1_ENST00000389570.4_Missense_Mutation_p.E284K			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	284								p.E284K(1)		large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GTGAAGTCCTCGTCACCCCAC	0.552000													8	20					0	0	0.307466	0	0
TMEM67	91147	broad.mit.edu	37	8	94805438	94805438	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:94805438G>T	ENST00000453321.3	+	16	1646	c.1588G>T	c.(1588-1590)Gta>Tta	p.V530L	TMEM67_ENST00000409623.3_Missense_Mutation_p.V449L	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	530					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	p.V520L(1)|p.V530L(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGCTTTGGGTGTATTGGGTGG	0.388000													5	64					5.9392e-07	8.22849e-07	0.217242	1	0
TACR1	6869	broad.mit.edu	37	2	75278382	75278382	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:75278382C>T	ENST00000305249.4	-	4	1693	c.928G>A	c.(928-930)Gac>Aac	p.D310N	TACR1_ENST00000409848.3_Missense_Mutation_p.D310N	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	310					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	p.D310N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CCTCACCTGTCATTGAGGCAG	0.532000													5	83					0	0	0.184627	0	0
TTPA	7274	broad.mit.edu	37	8	63985621	63985621	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:63985621T>A	ENST00000260116.4	-	2	262	c.231A>T	c.(229-231)agA>agT	p.R77S	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	77					lipid metabolic process		transporter activity|vitamin E binding	p.R77S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GACATTCTGCTCTCCACTTAT	0.363000													5	28					0	0	0.248553	0	0
TAF4B	6875	broad.mit.edu	37	18	23861998	23861998	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr18:23861998C>T	ENST00000269142.5	+	6	1944	c.946C>T	c.(946-948)Cag>Tag	p.Q316*	TAF4B_ENST00000578121.1_Nonsense_Mutation_p.Q316*|TAF4B_ENST00000400466.2_Nonsense_Mutation_p.Q316*	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	316	TAFH.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	p.Q316*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GTCTTCACCTCAGCCTCACCT	0.333000													6	55					0	0	0.217242	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185488	127185488	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:127185488C>A	ENST00000371124.3	-	1	894	c.698G>T	c.(697-699)aGc>aTc	p.S233I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	233						cytoplasm|cytoskeleton		p.S233I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTCTCCCCGGCTCTTGCGTAG	0.512000													13	71					0.00185496	0.00214163	0.435327	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													3	41					0	0	0.150653	0	0
FIG4	9896	broad.mit.edu	37	6	110037721	110037721	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:110037721A>T	ENST00000230124.3	+	3	363	c.239A>T	c.(238-240)cAg>cTg	p.Q80L	FIG4_ENST00000368941.1_Missense_Mutation_p.Q3L|FIG4_ENST00000441478.2_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	80					cell death	endosome membrane	protein binding	p.Q80L(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AAGATGGGACAGAAAGGATCC	0.408000													16	85					0	0	0.500413	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395892	47395892	+	Silent	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:47395892G>C	ENST00000310638.4	-	12	1486	c.1455C>G	c.(1453-1455)acC>acG	p.T485T	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Silent_p.T486T	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	485					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.T485T(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGGGGATCCTGGTGGGATCAG	0.567000													14	95					0	0	0.457914	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20392725	20392725	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:20392725C>A	ENST00000202677.6	-	38	5705	c.5563G>T	c.(5563-5565)Gat>Tat	p.D1855Y		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1855					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.D1855Y(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GCTGCGAAATCCTCGAATGTC	0.493000													14	89					1.52009e-12	2.35429e-12	0.479597	1	0
TRPS1	7227	broad.mit.edu	37	8	116632237	116632237	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:116632237C>G	ENST00000395715.3	-	3	665	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	TRPS1_ENST00000520276.1_Missense_Mutation_p.E21Q|TRPS1_ENST00000519076.1_Missense_Mutation_p.E17Q|TRPS1_ENST00000220888.5_Missense_Mutation_p.E17Q|TRPS1_ENST00000519674.1_Missense_Mutation_p.E17Q	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	17					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	p.E30Q(1)|p.E17Q(1)		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)			ATCTGGCCCTCGCCTTCACTT	0.438000									Langer-Giedion syndrome				5	38					0	0	0.278610	0	0
FAM72D	728833	broad.mit.edu	37	1	143912270	143912270	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:143912270T>A	ENST00000400889.1	-	1	873	c.26A>T	c.(25-27)aAg>aTg	p.K9M		NM_207418.2	NP_997301.2	Q6L9T8	FA72D_HUMAN	family with sequence similarity 72, member D	9								p.K9M(2)		lung(1)	1						GCACCTGTCCTTGAAACTACA	0.448000													64	340					0	0	0.870114	0	0
GABRB1	2560	broad.mit.edu	37	4	47322211	47322211	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:47322211C>A	ENST00000295454.3	+	5	821	c.529C>A	c.(529-531)Ctg>Atg	p.L177M	GABRB1_ENST00000538619.1_Missense_Mutation_p.L107M	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	177					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L177M(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAACTGCACCCTGGAGATCGA	0.418000													9	39					1.05317e-09	1.54926e-09	0.457914	1	0
TMEFF2	23671	broad.mit.edu	37	2	192818511	192818511	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:192818511G>C	ENST00000392314.1	-	9	1313	c.922C>G	c.(922-924)Cta>Gta	p.L308V	AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.L308V|AC098617.1_ENST00000428980.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	308	Required for shedding.					extracellular region|integral to membrane		p.L308V(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACAACGTATAGAACACTGTAG	0.438000													3	69					0	0	0.115264	0	0
DOCK2	1794	broad.mit.edu	37	5	169446070	169446070	+	Silent	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:169446070C>T	ENST00000256935.8	+	33	3419	c.3339C>T	c.(3337-3339)gaC>gaT	p.D1113D	DOCK2_ENST00000540750.1_Silent_p.D174D|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.D605D	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1113	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.D1113D(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTCTTCGACATGATGCTGT	0.463000													12	140					0	0	0.435327	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127425	55127425	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:55127425C>G	ENST00000257290.5	+	3	544	c.213C>G	c.(211-213)atC>atG	p.I71M	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.I71M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	71	Ig-like C2-type 1.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.I71M(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATGTGGAAATCAGAAATGAAG	0.493000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			24	110					0	0	0.667858	0	0
CENPE	1062	broad.mit.edu	37	4	104074252	104074252	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:104074252T>C	ENST00000265148.3	-	25	3278	c.3189A>G	c.(3187-3189)atA>atG	p.I1063M	CENPE_ENST00000380026.3_Missense_Mutation_p.I1038M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1063					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.I1063M(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTTTTCTGCTATAACACTCT	0.323000													4	36					0	0	0.150653	0	0
GBP5	115362	broad.mit.edu	37	1	89733118	89733118	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:89733118C>G	ENST00000343435.5	-	5	946	c.410G>C	c.(409-411)gGt>gCt	p.G137A	GBP5_ENST00000370459.3_Missense_Mutation_p.G137A|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	137						plasma membrane	GTP binding|GTPase activity	p.G137A(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTCGATAGCACCCTGATCAAT	0.453000													4	50					0	0	0.184627	0	0
HDAC9	9734	broad.mit.edu	37	7	18535937	18535937	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:18535937G>T	ENST00000406451.3	+	2	162	c.12G>T	c.(10-12)atG>atT	p.M4I	HDAC9_ENST00000405010.3_Missense_Mutation_p.M4I|HDAC9_ENST00000441542.2_Missense_Mutation_p.M4I|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000401921.1_Missense_Mutation_p.M4I|HDAC9_ENST00000428307.2_Missense_Mutation_p.M4I|HDAC9_ENST00000417496.2_Missense_Mutation_p.M46I|HDAC9_ENST00000406072.1_Missense_Mutation_p.M32I|HDAC9_ENST00000432645.2_Missense_Mutation_p.M4I	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	4					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGCACAGTATGATCAGCTCAG	0.468000													7	50					5.18039e-06	6.85323e-06	0.278610	1	0
OCA2	4948	broad.mit.edu	37	15	28090154	28090154	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:28090154C>A	ENST00000354638.3	-	23	2538	c.2383G>T	c.(2383-2385)Ggg>Tgg	p.G795W	OCA2_ENST00000353809.5_Missense_Mutation_p.G771W	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	795			G -> R (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.G795W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TCTGCAATCCCTGCACACACG	0.403000									Oculocutaneous Albinism				6	24					0.00307968	0.00349214	0.278610	1	0
PSG11	5680	broad.mit.edu	37	19	43528911	43528911	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:43528911G>T	ENST00000401740.1	-	2	465	c.362C>A	c.(361-363)aCc>aAc	p.T121N	PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.T121N|PSG11_ENST00000403486.1_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	121	Ig-like V-type.				female pregnancy	extracellular region		p.T121N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GATGTGTAAGGTGTAGGATCC	0.463000													79	62					2.03867e-50	3.51462e-50	0.870114	1	0
ABCB1	5243	broad.mit.edu	37	7	87190651	87190651	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:87190651G>T	ENST00000265724.3	-	9	1172	c.755C>A	c.(754-756)gCa>gAa	p.A252E	ABCB1_ENST00000543898.1_Missense_Mutation_p.A188E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	252	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.A252E(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCAGCTACTGCTCCAGCTTT	0.323000													10	29					4.68919e-08	6.69132e-08	0.361761	1	0
ADH1C	126	broad.mit.edu	37	4	100268947	100268947	+	RNA	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:100268947C>A	ENST00000510055.1	-	0	249				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCTCTACCTCCTCAATGGAAA	0.378000													3	43					0.004672	0.00523539	0.115264	1	0
RNF20	56254	broad.mit.edu	37	9	104309130	104309130	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:104309130C>T	ENST00000389120.3	+	7	866	c.776C>T	c.(775-777)aCa>aTa	p.T259I		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	259					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.T259I(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AAAGTGGAGACAGCCGAATCA	0.418000													14	45					0	0	0.457914	0	0
CSMD3	114788	broad.mit.edu	37	8	113277715	113277715	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:113277715T>C	ENST00000297405.5	-	60	9857	c.9613A>G	c.(9613-9615)Atg>Gtg	p.M3205V	CSMD3_ENST00000343508.3_Missense_Mutation_p.M3165V|CSMD3_ENST00000455883.2_Missense_Mutation_p.M3036V|CSMD3_ENST00000352409.3_Missense_Mutation_p.M3135V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3205	Sushi 24.					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						TTCAATTCCATCGTGTAGCCT	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	112					0	0	0.435327	0	0
OVCH1	341350	broad.mit.edu	37	12	29630272	29630272	+	Splice_Site	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:29630272A>T	ENST00000318184.5	-	11	1246		c.e11+1		OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.?(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGAAACACTCACCTGCTTCTG	0.453000													6	96					0	0	0.248553	0	0
CLIC1	1192	broad.mit.edu	37	6	31698644	31698644	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:31698644T>A	ENST00000375780.2	-	7	1273	c.701A>T	c.(700-702)gAg>gTg	p.E234V	CLIC1_ENST00000375779.2_Missense_Mutation_p.E234V|CLIC1_ENST00000375784.3_Missense_Mutation_p.E234V|CLIC1_ENST00000395892.1_Missense_Mutation_p.E234V			O00299	CLIC1_HUMAN	chloride intracellular channel 1	234					signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	p.E234V(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						TGCCACTTGCTCATAGGCGAG	0.562000													9	37					0	0	0.335167	0	0
NKD2	85409	broad.mit.edu	37	5	1038187	1038187	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:1038187C>A	ENST00000296849.5	+	10	1284	c.1055C>A	c.(1054-1056)gCc>gAc	p.A352D	NKD2_ENST00000382730.2_Intron|NKD2_ENST00000274150.4_3'UTR	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	352	Interaction with TGFA.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.A352E(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TCCGGGAAAGCCTTCAGCTAC	0.716000													5	22					0.000602214	0.000712558	0.184627	1	0
OR4D10	390197	broad.mit.edu	37	11	59245659	59245659	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:59245659C>A	ENST00000530162.1	+	1	814	c.757C>A	c.(757-759)Ccc>Acc	p.P253T		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P253T(1)|p.P251T(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCATTTCGTGCCCTGCATCTA	0.547000													13	119					5.50884e-06	7.23747e-06	0.411799	1	0
ADI1	55256	broad.mit.edu	37	2	3502845	3502845	+	Silent	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:3502845C>G	ENST00000382093.5	-	4	3248	c.411G>C	c.(409-411)acG>acC	p.T137T	ADI1_ENST00000327435.6_Silent_p.T143T			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	143					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding	p.T143T(1)		breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		GCATGGCCTTCGTGTAGTTCT	0.478000													4	35					0	0	0.217242	0	0
SPRED2	200734	broad.mit.edu	37	2	65540932	65540932	+	Silent	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:65540932C>T	ENST00000356388.4	-	6	1149	c.960G>A	c.(958-960)gaG>gaA	p.E320E	SPRED2_ENST00000443619.2_Silent_p.E317E	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	320	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	p.E320E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCCGGCGGTTCTCCTCGTGGT	0.657000													27	108					0	0	0.769981	0	0
GNB1L	54584	broad.mit.edu	37	22	19799918	19799918	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr22:19799918C>A	ENST00000329517.6	-	5	543	c.307G>T	c.(307-309)Gct>Tct	p.A103S	GNB1L_ENST00000403325.1_Missense_Mutation_p.A103S|GNB1L_ENST00000405009.1_Missense_Mutation_p.A103S|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	103					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		p.A103S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TCCACGACAGCGCTCCTGCCC	0.672000													5	28					0.184627	0.187082	0.184627	1	0
DCLK3	85443	broad.mit.edu	37	3	36779123	36779123	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:36779123C>A	ENST00000416516.2	-	2	1518	c.1028G>T	c.(1027-1029)cGg>cTg	p.R343L		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	343						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.R343L(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCCCATGGGCCGTGGCTTCCG	0.567000													19	50					1.56452e-12	2.40356e-12	0.557998	1	0
ABL2	27	broad.mit.edu	37	1	179112177	179112177	+	Translation_Start_Site	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:179112177C>A	ENST00000408940.3	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	ABL2_ENST00000392043.3_Intron|ABL2_ENST00000344730.3_Start_Codon_SNP_p.M1I|ABL2_ENST00000504405.1_Start_Codon_SNP_p.M1I|ABL2_ENST00000502732.1_Intron|ABL2_ENST00000512653.1_Start_Codon_SNP_p.M1I|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000367623.4_Intron	NM_001168239.1	NP_001161711.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	0					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.M1I(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCCCAAGGACCATACCTCTGC	0.458000			T	ETV6	AML								15	39					7.93312e-07	1.08724e-06	0.457914	1	0
LAMA1	284217	broad.mit.edu	37	18	7040236	7040236	+	Splice_Site	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr18:7040236C>A	ENST00000389658.3	-	10	1355		c.e10-1			NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.?(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGCTTCCCTAGAAAGACA	0.453000													7	41					0.0381472	0.040598	0.278610	1	0
SLITRK2	84631	broad.mit.edu	37	X	144905986	144905986	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:144905986C>A	ENST00000370490.1	+	1	6298	c.2043C>A	c.(2041-2043)gaC>gaA	p.D681E	SLITRK2_ENST00000413937.2_Missense_Mutation_p.D681E|SLITRK2_ENST00000428560.2_Missense_Mutation_p.D681E|SLITRK2_ENST00000434188.2_Missense_Mutation_p.D681E|SLITRK2_ENST00000447897.2_Missense_Mutation_p.D681E			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	681						integral to membrane		p.D681E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAAACAGACGGCCATGTCT	0.488000													11	27					4.68919e-08	6.69132e-08	0.361761	1	0
POF1B	79983	broad.mit.edu	37	X	84558432	84558432	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:84558432C>A	ENST00000262753.4	-	15	1774	c.1629G>T	c.(1627-1629)agG>agT	p.R543S	POF1B_ENST00000373145.3_Missense_Mutation_p.R543S	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	543							actin binding	p.R543S(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TAATAGTAGTCCTTCCACCAG	0.279000													5	9					0.000602214	0.000712558	0.184627	1	0
CDH9	1007	broad.mit.edu	37	5	26915863	26915863	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:26915863C>A	ENST00000231021.4	-	3	570	c.398G>T	c.(397-399)aGa>aTa	p.R133I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	133	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R133I(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCCAGTTTTTCTGTCTATAGC	0.368000													37	173					4.14481e-20	6.9567e-20	0.819951	1	0
DOK5	55816	broad.mit.edu	37	20	53260092	53260092	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:53260092C>A	ENST00000262593.5	+	7	1181	c.831C>A	c.(829-831)agC>agA	p.S277R	DOK5_ENST00000395939.1_Missense_Mutation_p.S169R	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	277							insulin receptor binding	p.S277R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GGCAGCACAGCACGGGACAGC	0.652000													8	20					0.00307968	0.00349214	0.278610	1	0
GALNT2	2590	broad.mit.edu	37	1	230398372	230398372	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:230398372A>T	ENST00000366672.4	+	12	1262	c.1190A>T	c.(1189-1191)tAt>tTt	p.Y397F	GALNT2_ENST00000541865.1_3'UTR|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000543760.1_Missense_Mutation_p.Y359F|RP5-956O18.2_ENST00000440729.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	397					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.Y397F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AATTTCTATTATGCAGCAGTG	0.453000													15	216					0	0	0.520397	0	0
SI	6476	broad.mit.edu	37	3	164700105	164700105	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:164700105G>C	ENST00000264382.3	-	47	5403	c.5341C>G	c.(5341-5343)Cct>Gct	p.P1781A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1781	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.P1781A(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCATTGACAGGAGTAGTTCCT	0.348000										HNSCC(35;0.089)			3	57					0	0	0.184627	0	0
DLG2	1740	broad.mit.edu	37	11	83252726	83252726	+	Splice_Site	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:83252726T>A	ENST00000398309.2	-	15	2271	c.1802_splice	c.e15+1	p.R601_splice	DLG2_ENST00000376106.3_Splice_Site_p.R83_splice|DLG2_ENST00000330014.6_Splice_Site_p.R540_splice|DLG2_ENST00000426717.2_Splice_Site_p.R83_splice|DLG2_ENST00000376104.2_Splice_Site_p.R706_splice|DLG2_ENST00000404783.3_Splice_Site_p.R83_splice|DLG2_ENST00000537455.1_Splice_Site_p.R355_splice|DLG2_ENST00000530800.1_Splice_Site_p.R110_splice|DLG2_ENST00000524982.1_Splice_Site_p.R601_splice|DLG2_ENST00000532653.1_Splice_Site_p.R601_splice|DLG2_ENST00000531015.1_Splice_Site_p.R568_splice|DLG2_ENST00000418306.2_Splice_Site_p.R498_splice|DLG2_ENST00000543673.1_Splice_Site_p.R706_splice|DLG2_ENST00000280241.8_Splice_Site_p.R640_splice|DLG2_ENST00000398304.1_Splice_Site_p.R83_splice	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	601	SH3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.R706W(1)|p.R601W(1)|p.R640W(1)|p.R498W(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CATTCTTACCTCCTTTTGCTG	0.473000													8	37					0	0	0.278610	0	0
DCDC1	341019	broad.mit.edu	37	11	31086155	31086155	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:31086155T>A	ENST00000597505.1	-	18	2451	c.2452A>T	c.(2452-2454)Agc>Tgc	p.S818C	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.S437C(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCAAGGTTGCTGGCACTTTCT	0.413000													6	60					0	0	0.217242	0	0
FAM135A	57579	broad.mit.edu	37	6	71235313	71235313	+	Silent	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:71235313T>C	ENST00000418814.2	+	15	3140	c.2526T>C	c.(2524-2526)tcT>tcC	p.S842S	FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000457062.2_Silent_p.S629S|FAM135A_ENST00000361499.3_Silent_p.S646S|FAM135A_ENST00000370479.3_Silent_p.S629S|FAM135A_ENST00000505868.1_Silent_p.S842S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	842								p.S842S(1)|p.S629S(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CCATAAACTCTCTACCCTCCG	0.328000													3	60					0	0	0.150653	0	0
NRXN3	9369	broad.mit.edu	37	14	79175640	79175640	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:79175640C>A	ENST00000554719.1	+	4	674	c.183C>A	c.(181-183)ggC>ggA	p.G61G	NRXN3_ENST00000335750.5_Silent_p.G61G|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane		p.G61G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAATCTATGGCGAAGTTGTGT	0.468000													7	51					5.18039e-06	6.85323e-06	0.278610	1	0
MYH3	4621	broad.mit.edu	37	17	10541663	10541663	+	Silent	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:10541663C>T	ENST00000583535.1	-	27	3513	c.3426G>A	c.(3424-3426)cgG>cgA	p.R1142R	MYH3_ENST00000226209.7_Silent_p.R1142R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1142					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1142R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTCCAGCTCCCGGGCATAGT	0.642000													10	24					0	0	0.387290	0	0
HIST3H2BB	128312	broad.mit.edu	37	1	228645844	228645844	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:228645844C>A	ENST00000369160.2	+	1	37	c.14C>A	c.(13-15)tCc>tAc	p.S5Y		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	5					nucleosome assembly	nucleosome|nucleus	DNA binding	p.S5Y(1)		skin(1)	1		Prostate(94;0.183)				CCAGACCCGTCCAAATCGGCT	0.527000													17	44					2.48551e-13	3.94574e-13	0.520397	1	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906334	120906334	+	RNA	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:120906334G>T	ENST00000430394.1	+	0	307					NR_027337.1																						GATCCAGACGGCCGTGCGCCT	0.642000													11	52					0.00010058	0.000124419	0.411799	1	0
GOLGA3	2802	broad.mit.edu	37	12	133375049	133375049	+	Silent	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:133375049G>T	ENST00000204726.3	-	9	2373	c.1815C>A	c.(1813-1815)acC>acA	p.T605T	GOLGA3_ENST00000537452.1_Silent_p.T605T|GOLGA3_ENST00000456883.2_Silent_p.T605T|GOLGA3_ENST00000450791.2_Silent_p.T605T|GOLGA3_ENST00000545875.1_Silent_p.T605T	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	605	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.T605T(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GACCTGCCTGGGTCATCTGTC	0.522000													8	62					0.00010058	0.000124419	0.411799	1	0
AMZ1	155185	broad.mit.edu	37	7	2740344	2740344	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:2740344C>A	ENST00000312371.4	+	2	627	c.259C>A	c.(259-261)Cgg>Agg	p.R87R	AMZ1_ENST00000407112.1_Silent_p.R87R	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	87							metallopeptidase activity|zinc ion binding	p.R87R(1)		breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCTGCAGCACCGGAAGCCCCG	0.647000													30	50					3.11337e-16	5.13505e-16	0.769981	1	0
FHOD3	80206	broad.mit.edu	37	18	34205613	34205613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr18:34205613C>A	ENST00000257209.4	+	10	1219	c.1097C>A	c.(1096-1098)tCg>tAg	p.S366*	FHOD3_ENST00000445677.1_Nonsense_Mutation_p.S366*|FHOD3_ENST00000590592.1_Nonsense_Mutation_p.S366*|FHOD3_ENST00000591635.1_Silent_p.R41R|FHOD3_ENST00000359247.4_Nonsense_Mutation_p.S366*	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	366	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S366*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGCAGGCACTCGGTGCAGAGC	0.677000													12	58					6.40141e-05	8.02282e-05	0.387290	1	0
OR13C4	138804	broad.mit.edu	37	9	107288584	107288584	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:107288584C>A	ENST00000277216.3	-	1	906	c.907G>T	c.(907-909)Gta>Tta	p.V303L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V303L(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GCAGCTTTTACATCTTTATTT	0.378000													14	44					4.7546e-09	6.91414e-09	0.500413	1	0
RHOT2	89941	broad.mit.edu	37	16	723512	723512	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:723512C>T	ENST00000315082.4	+	19	1877	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	588	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	p.S588F(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CATCCCTCTTCCTTCTGGCTC	0.627000													25	89					0	0	0.667858	0	0
HCFC1	3054	broad.mit.edu	37	X	153220036	153220036	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:153220036C>A	ENST00000310441.7	-	17	4780	c.3814G>T	c.(3814-3816)Gtg>Ttg	p.V1272L	HCFC1_ENST00000369984.4_Missense_Mutation_p.V1272L|HCFC1_ENST00000354233.3_Missense_Mutation_p.V1203L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1272					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.V1175L(1)|p.V1272L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGGCTGTCACAGTCACTGTG	0.672000													7	38					0.00198382	0.00226977	0.248553	1	0
PLCL1	5334	broad.mit.edu	37	2	198948482	198948482	+	Splice_Site	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:198948482G>T	ENST00000428675.1	+	2	639	c.240_splice	c.e2-1	p.D81_splice		NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	81					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D81Y(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TATTTTACAGGATCCTTCAAA	0.343000													6	24					3.59834e-05	4.58517e-05	0.217242	1	0
NAALAD2	10003	broad.mit.edu	37	11	89883723	89883723	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:89883723G>C	ENST00000534061.1	+	5	787	c.557G>C	c.(556-558)tGt>tCt	p.C186S	NAALAD2_ENST00000525171.1_Missense_Mutation_p.C186S|NAALAD2_ENST00000321955.4_Missense_Mutation_p.C186S|NAALAD2_ENST00000375944.3_Missense_Mutation_p.C186S	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	186					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.C186S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGCATCAACTGTACTGGGAAG	0.313000													7	52					0	0	0.278610	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55064955	55064955	+	RNA	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:55064955C>T	ENST00000526016.1	-	0	470					NR_038174.2																						CGGTACTAACCTTCCAGCATC	0.413000													4	41					0	0	0.150653	0	0
GNPTAB	79158	broad.mit.edu	37	12	102164889	102164889	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:102164889T>A	ENST00000299314.7	-	8	1080	c.818A>T	c.(817-819)aAc>aTc	p.N273I	GNPTAB_ENST00000549940.1_Missense_Mutation_p.N273I	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	273					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	p.N273I(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ATCCTTGGGGTTATTCAGTTT	0.368000													4	73					0	0	0.150653	0	0
OR51S1	119692	broad.mit.edu	37	11	4870358	4870358	+	Silent	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:4870358G>T	ENST00000322101.2	-	1	156	c.81C>A	c.(79-81)ggC>ggA	p.G27G	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G27G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCTGATAGGCCTGGCATGC	0.542000													8	54					0.000673444	0.00079192	0.361761	1	0
KCNB1	3745	broad.mit.edu	37	20	47990687	47990687	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:47990687C>A	ENST00000371741.4	-	2	1576	c.1410G>T	c.(1408-1410)gaG>gaT	p.E470D		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	470					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.E470D(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TACCCATATTCTCCCCATTTT	0.433000													14	100					4.3838e-07	6.11805e-07	0.435327	1	0
TRIM56	81844	broad.mit.edu	37	7	100731915	100731915	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:100731915A>T	ENST00000306085.6	+	3	1619	c.1322A>T	c.(1321-1323)cAg>cTg	p.Q441L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	441					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.Q441L(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GACAGGGCCCAGACACCCCAC	0.607000													8	41					0	0	0.307466	0	0
GABRB1	2560	broad.mit.edu	37	4	47322210	47322210	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:47322210C>A	ENST00000295454.3	+	5	820	c.528C>A	c.(526-528)acC>acA	p.T176T	GABRB1_ENST00000538619.1_Silent_p.T106T	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	176					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L177M(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGAACTGCACCCTGGAGATCG	0.413000													9	38					1.05317e-09	1.54926e-09	0.457914	1	0
GIMAP5	55340	broad.mit.edu	37	7	150439330	150439330	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:150439330A>C	ENST00000358647.3	+	3	470	c.103A>C	c.(103-105)Aaa>Caa	p.K35Q	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5									p.K35Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTAGTGGGCAAAACAGGCTG	0.493000													12	50					0	0	0.387290	0	0
ZNF107	51427	broad.mit.edu	37	7	64167419	64167419	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:64167419G>T	ENST00000395391.1	+	4	2112	c.737G>T	c.(736-738)tGt>tTt	p.C246F	ZNF107_ENST00000423627.1_Missense_Mutation_p.C246F|ZNF107_ENST00000344930.3_Missense_Mutation_p.C246F			Q9UII5	ZN107_HUMAN	zinc finger protein 107	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C246F(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTCTACAAGTGTAAAGAATGT	0.373000													5	31					0.184627	0.187082	0.184627	1	0
GPR22	2845	broad.mit.edu	37	7	107114603	107114603	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:107114603C>A	ENST00000304402.4	+	3	1441	c.98C>A	c.(97-99)cCa>cAa	p.P33Q	COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	33						integral to plasma membrane	G-protein coupled receptor activity	p.P33Q(1)		large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						ATGTACCAACCACTATCATAT	0.393000													31	81					4.40665e-25	7.49523e-25	0.740014	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64527519	64527519	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:64527519T>C	ENST00000498707.1	-	33	5534	c.5192A>G	c.(5191-5193)tAt>tGt	p.Y1731C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Y1703C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1731	TSP type-1 15.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y1731C(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTTACAGTTATAGACATTACG	0.393000													21	85					0	0	0.624587	0	0
ANK1	286	broad.mit.edu	37	8	41582018	41582018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:41582018G>A	ENST00000396942.1	-	7	750	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	ANK1_ENST00000379758.2_Nonsense_Mutation_p.Q223*|ANK1_ENST00000396945.1_Nonsense_Mutation_p.Q223*|ANK1_ENST00000347528.4_Nonsense_Mutation_p.Q223*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.Q223*|ANK1_ENST00000265709.8_Nonsense_Mutation_p.Q256*|ANK1_ENST00000352337.4_Nonsense_Mutation_p.Q223*			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	223	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.Q256*(1)|p.Q223*(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGAGCAACTGGGCCACGTTG	0.577000													5	12					0	0	0.217242	0	0
OR2M2	391194	broad.mit.edu	37	1	248343380	248343380	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:248343380C>A	ENST00000359682.2	+	1	93	c.93C>A	c.(91-93)gtC>gtA	p.V31V		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V31V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTTTCTGGTCCTGGGCATCT	0.512000													54	142					9.72345e-25	1.6465e-24	0.870114	1	0
SDAD1P1	157489	broad.mit.edu	37	8	26238534	26238534	+	RNA	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:26238534C>T	ENST00000519902.1	-	0	1414																											TGATATCAGTCACGATATATG	0.343000													5	31					0	0	0.184627	0	0
EGFR	1956	broad.mit.edu	37	7	55220240	55220240	+	Splice_Site	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:55220240G>T	ENST00000275493.2	+	6	807	c.628_splice	c.e6-1	p.L210_splice	EGFR_ENST00000344576.2_Splice_Site_p.L210_splice|EGFR_ENST00000454757.2_Splice_Site_p.L157_splice|EGFR_ENST00000442591.1_Splice_Site_p.L210_splice|EGFR_ENST00000342916.3_Splice_Site_p.L210_splice|EGFR_ENST00000420316.2_Splice_Site_p.L210_splice|EGFR_ENST00000455089.1_Splice_Site_p.L165_splice	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	210					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L210L(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTTTTTCAGTGACCAAAATCA	0.557000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			27	256					5.60225e-13	8.78377e-13	0.740014	1	0
CDH18	1016	broad.mit.edu	37	5	19503202	19503202	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:19503202C>G	ENST00000507958.1	-	13	2519	c.1529G>C	c.(1528-1530)aGt>aCt	p.S510T	CDH18_ENST00000511273.1_Missense_Mutation_p.S510T|CDH18_ENST00000382275.1_Missense_Mutation_p.S510T|CDH18_ENST00000502796.1_Missense_Mutation_p.S510T|CDH18_ENST00000274170.4_Missense_Mutation_p.S510T|CDH18_ENST00000506372.1_Missense_Mutation_p.S510T			Q13634	CAD18_HUMAN	cadherin 18, type 2	510	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S510T(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATCAGTGGCACTGATGGTATG	0.323000													5	55					0	0	0.217242	0	0
STAB2	55576	broad.mit.edu	37	12	103988241	103988241	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:103988241A>G	ENST00000388887.2	+	3	488	c.284A>G	c.(283-285)tAt>tGt	p.Y95C		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	95					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.Y95C(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGAAGGACTATCTCCAACCT	0.507000													13	89					0	0	0.479597	0	0
CAPNS1	826	broad.mit.edu	37	19	36634000	36634000	+	Silent	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:36634000C>T	ENST00000246533.3	+	6	1024	c.426C>T	c.(424-426)gaC>gaT	p.D142D	CAPNS1_ENST00000588815.1_Silent_p.D142D|CAPNS1_ENST00000590874.1_Silent_p.D112D|CAPNS1_ENST00000587718.1_Silent_p.D142D|CAPNS1_ENST00000588780.1_Silent_p.D142D|CAPNS1_ENST00000589146.1_Intron	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	142	EF-hand 2.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.D142D(1)		cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGGCATTGACACATGTCGCA	0.527000													63	79					0	0	0.870114	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54914873	54914873	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:54914873A>T	ENST00000474759.1	+	21	1943	c.1895A>T	c.(1894-1896)aAt>aTt	p.N632I	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.N632I|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.N538I|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.N632I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	632						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.N632I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTCCGAGGGAATGTAACCATC	0.473000													21	157					0	0	0.624587	0	0
IGLV3-27	28791	broad.mit.edu	37	22	23011073	23011073	+	RNA	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr22:23011073C>A	ENST00000390304.2	+	0	174																											AGGAGATGTACTGGCAAAAAA	0.552000													17	95					1.56452e-12	2.40356e-12	0.557998	1	0
ZNF594	84622	broad.mit.edu	37	17	5086105	5086105	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:5086105T>C	ENST00000399604.4	-	1	1587	c.1447A>G	c.(1447-1449)Act>Gct	p.T483A	ZNF594_ENST00000575779.1_Missense_Mutation_p.T483A			Q96JF6	ZN594_HUMAN	zinc finger protein 594	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T483A(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTCTCCAGTATGGATTTTC	0.463000													13	43					0	0	0.435327	0	0
ABCC5	10057	broad.mit.edu	37	3	183665138	183665138	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:183665138C>A	ENST00000334444.6	-	23	3628	c.3388G>T	c.(3388-3390)Ggt>Tgt	p.G1130C	ABCC5_ENST00000265586.6_Missense_Mutation_p.G1087C	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1130	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.G1130C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGGCGAGACCCGCATAGGCT	0.562000													4	20					0.150653	0.155553	0.150653	1	0
PGBD5	79605	broad.mit.edu	37	1	230472911	230472911	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:230472911T>A	ENST00000321327.2	-	6	1107	c.1108A>T	c.(1108-1110)Att>Ttt	p.I370F	PGBD5_ENST00000391860.1_Missense_Mutation_p.I225F|PGBD5_ENST00000525115.1_Missense_Mutation_p.I271F			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	271						integral to membrane		p.I370F(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CCCGTGAAAATGATGTAGTTC	0.597000													14	40					0	0	0.435327	0	0
FAM120A	23196	broad.mit.edu	37	9	96312945	96312945	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:96312945A>T	ENST00000277165.6	+	12	2440	c.2246A>T	c.(2245-2247)tAc>tTc	p.Y749F	FAM120A_ENST00000333936.5_Missense_Mutation_p.Y777F|FAM120A_ENST00000340893.4_Missense_Mutation_p.Y749F	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	749						cytoplasm|plasma membrane	RNA binding	p.Y749F(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCCAAACTCTACGAGCCTGAT	0.537000													7	21					0	0	0.248553	0	0
NPAP1	23742	broad.mit.edu	37	15	24921270	24921270	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:24921270C>A	ENST00000329468.2	+	1	730	c.256C>A	c.(256-258)Ccg>Acg	p.P86T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P86T(1)									GGGGGTCCTGCCGGCTGTGGG	0.687000													5	24					0.014758	0.0160194	0.184627	1	0
CSPG4	1464	broad.mit.edu	37	15	75982567	75982567	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:75982567G>A	ENST00000308508.5	-	3	931	c.839C>T	c.(838-840)gCc>gTc	p.A280V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	280	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.A280V(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTGCCCATCGGCCACAGGCAC	0.587000													3	21					0	0	0.115264	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	51					0	0	0.150653	0	0
PDE6C	5146	broad.mit.edu	37	10	95395390	95395390	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:95395390C>A	ENST00000371447.3	+	10	1544	c.1406C>A	c.(1405-1407)tCc>tAc	p.S469Y		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	469					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.S469Y(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GAAATTAAGTCCATTTTGGTA	0.393000													18	35					1.00905e-13	1.61532e-13	0.575678	1	0
GCNT1	2650	broad.mit.edu	37	9	79117986	79117986	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:79117986T>C	ENST00000442371.1	+	3	1628	c.689T>C	c.(688-690)gTc>gCc	p.V230A	GCNT1_ENST00000376730.4_Missense_Mutation_p.V230A|GCNT1_ENST00000444201.2_Missense_Mutation_p.V230A|GCNT1_ENST00000536223.1_Missense_Mutation_p.V230A	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	230	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.V230A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CTAGAAATTGTCAGGAAGCTC	0.408000													11	48					0	0	0.361761	0	0
NKD2	85409	broad.mit.edu	37	5	1038314	1038314	+	Silent	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:1038314G>A	ENST00000296849.5	+	10	1411	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S	NKD2_ENST00000382730.2_Intron|NKD2_ENST00000274150.4_3'UTR	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	394					exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.S394S(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			AGGGCCACTCGCCACTCAAGG	0.721000													3	10					0	0	0.150653	0	0
CDH22	64405	broad.mit.edu	37	20	44845618	44845618	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:44845618C>A	ENST00000372262.3	-	4	1085	c.685G>T	c.(685-687)Gct>Tct	p.A229S	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.A229S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	229	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A229S(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCAGGCACAGCCGTCCGGATT	0.657000													4	59					0.150653	0.155553	0.150653	1	0
SIX4	51804	broad.mit.edu	37	14	61180433	61180433	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:61180433T>C	ENST00000216513.4	-	3	2097	c.2038A>G	c.(2038-2040)Atg>Gtg	p.M680V		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	680						nucleus		p.M680V(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GCCTGAGTCATAGGGACTGAC	0.473000													3	28					0	0	0.150653	0	0
OR11A1	26531	broad.mit.edu	37	6	29394972	29394972	+	Silent	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:29394972G>T	ENST00000377149.1	-	5	919	c.447C>A	c.(445-447)acC>acA	p.T149T	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Silent_p.T149T|OR11A1_ENST00000377147.2_Silent_p.T149T			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T149T(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAGAGAGCCAGGTTGTGACCA	0.557000													21	38					2.98393e-07	4.1797e-07	0.639603	1	0
DNAJC6	9829	broad.mit.edu	37	1	65878623	65878623	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:65878623A>G	ENST00000395325.3	+	19	2814	c.2657A>G	c.(2656-2658)tAt>tGt	p.Y886C	DNAJC6_ENST00000371069.4_Missense_Mutation_p.Y943C|DNAJC6_ENST00000263441.7_Missense_Mutation_p.Y873C	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	886	J.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.Y886C(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GGGCAACCCTATGAACAATAC	0.358000													23	165					0	0	0.729181	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376446	50376446	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:50376446T>A	ENST00000376020.2	-	4	2652	c.2627A>T	c.(2626-2628)cAc>cTc	p.H876L	SHROOM4_ENST00000460112.3_Missense_Mutation_p.H760L|SHROOM4_ENST00000289292.7_Missense_Mutation_p.H876L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	876	Cys-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.H876L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATCACCACAGTGTAGTGGCTT	0.433000													3	36					0	0	0.150653	0	0
HEXDC	284004	broad.mit.edu	37	17	80393670	80393670	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:80393670G>A	ENST00000337014.6	+	6	1027	c.553G>A	c.(553-555)Gtg>Atg	p.V185M	HEXDC_ENST00000327949.9_Missense_Mutation_p.V185M|HEXDC_ENST00000577944.1_Missense_Mutation_p.V185M	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	185					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	p.V185M(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGCCAGCGGCGTGAAGGCCCG	0.687000													6	81					0	0	0.278610	0	0
TGM4	7047	broad.mit.edu	37	3	44951735	44951735	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:44951735T>G	ENST00000296125.4	+	11	1549	c.1481T>G	c.(1480-1482)cTt>cGt	p.L494R		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	494					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L494R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ACCGTGATTCTTAAAAGGAAG	0.448000													14	72					0	0	0.479597	0	0
C14orf39	317761	broad.mit.edu	37	14	60903630	60903630	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:60903630A>G	ENST00000321731.3	-	18	1856	c.1697T>C	c.(1696-1698)aTa>aCa	p.I566T		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	566								p.I566T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AGAAGAAGGTATTGAATTTTG	0.294000													23	155					0	0	0.681144	0	0
KIAA0391	9692	broad.mit.edu	37	14	35593129	35593129	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:35593129G>T	ENST00000557565.1	+	2	1059	c.678G>T	c.(676-678)tgG>tgT	p.W226C	KIAA0391_ENST00000321130.10_Missense_Mutation_p.W226C|KIAA0391_ENST00000534898.4_Missense_Mutation_p.W226C|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000604948.1_Missense_Mutation_p.W131C|KIAA0391_ENST00000603544.1_Missense_Mutation_p.W226C|KIAA0391_ENST00000250377.7_Missense_Mutation_p.W131C|KIAA0391_ENST00000605870.1_Intron			O15091	MRRP3_HUMAN	KIAA0391	226					tRNA processing	mitochondrion		p.W226C(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CAGACAGATGGAGAGAAGCAT	0.373000													9	40					0.000274275	0.000331742	0.307466	1	0
CCDC135	84229	broad.mit.edu	37	16	57756693	57756693	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:57756693G>A	ENST00000360716.3	+	11	1569	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	CCDC135_ENST00000394337.4_Missense_Mutation_p.A450T|CCDC135_ENST00000336825.8_Missense_Mutation_p.A385T			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	450						cytoplasm		p.A450T(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGAGAAGTGGGCCCCGTACCT	0.567000													14	45					0	0	0.435327	0	0
SNAI2	6591	broad.mit.edu	37	8	49831549	49831549	+	Splice_Site	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:49831549T>A	ENST00000396822.1	-	4	983		c.e4-2		SNAI2_ENST00000020945.1_Splice_Site			O43623	SNAI2_HUMAN	snail family zinc finger 2						canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GCTTCTCCCCTGGGGGTGGAG	0.403000													3	27					0	0	0.115264	0	0
TECRL	253017	broad.mit.edu	37	4	65188410	65188410	+	Silent	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:65188410G>T	ENST00000381210.3	-	4	542	c.432C>A	c.(430-432)acC>acA	p.T144T	TECRL_ENST00000507440.1_Silent_p.T144T|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	144					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.T144T(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CACTTACTGTGGTCCAACTGA	0.343000													10	28					0.010729	0.0118486	0.387290	1	0
SCN9A	6335	broad.mit.edu	37	2	167141201	167141201	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:167141201C>A	ENST00000375387.4	-	12	2079	c.1739G>T	c.(1738-1740)gGa>gTa	p.G580V	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.G579V|SCN9A_ENST00000409435.1_Missense_Mutation_p.G579V|SCN9A_ENST00000303354.6_Missense_Mutation_p.G580V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	579						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G579V(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTCATTGTCTCCAAAAATGCT	0.507000													4	63					0.150653	0.155553	0.150653	1	0
SMC4	10051	broad.mit.edu	37	3	160137168	160137168	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:160137168T>A	ENST00000357388.3	+	12	2145	c.1694T>A	c.(1693-1695)cTt>cAt	p.L565H	SMC4_ENST00000469762.1_Missense_Mutation_p.L540H|SMC4_ENST00000462787.1_Missense_Mutation_p.L565H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.L565H|SMC4_ENST00000360111.2_Missense_Mutation_p.L565H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	565					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	p.L565H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTCAAAAACTTACACAAGAA	0.303000													6	25					0	0	0.217242	0	0
OR2G6	391211	broad.mit.edu	37	1	248685220	248685220	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:248685220C>A	ENST00000343414.4	+	1	305	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGACAAAACCATGAGCTACG	0.517000													21	107					3.28513e-13	5.1935e-13	0.667858	1	0
OR2L8	391190	broad.mit.edu	37	1	248112611	248112611	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:248112611G>T	ENST00000357191.3	+	1	452	c.452G>T	c.(451-453)gGc>gTc	p.G151V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)			TGGATCATAGGCTCGATCAAT	0.448000													25	230					7.07758e-08	1.00618e-07	0.681144	1	0
MYO5A	4644	broad.mit.edu	37	15	52720687	52720687	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:52720687T>A	ENST00000399231.3	-	3	461	c.218A>T	c.(217-219)gAc>gTc	p.D73V	MYO5A_ENST00000358212.6_Missense_Mutation_p.D73V|MYO5A_ENST00000356338.6_Missense_Mutation_p.D73V|MYO5A_ENST00000399233.2_Missense_Mutation_p.D73V|MYO5A_ENST00000553916.1_Missense_Mutation_p.D73V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	73	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.D73V(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GGCTGTGAGGTCATTTTCACC	0.423000													5	78					0	0	0.217242	0	0
COL2A1	1280	broad.mit.edu	37	12	48369172	48369172	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:48369172G>T	ENST00000380518.3	-	51	3978	c.3814C>A	c.(3814-3816)Ccc>Acc	p.P1272T	COL2A1_ENST00000337299.6_Missense_Mutation_p.P1203T|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	1272	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	p.P1203T(1)|p.P1272T(1)		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)	GAGCCCTCGGGGCTGCGGATG	0.622000													15	38					0.0285812	0.0306745	0.500413	1	0
GBP4	115361	broad.mit.edu	37	1	89656943	89656943	+	Splice_Site	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:89656943C>A	ENST00000355754.6	-	6	1014		c.e6+1			NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4							cytoplasm	GTP binding|GTPase activity	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AAAAGACTCACGCTTTCCAGT	0.403000													10	55					1.58986e-06	2.15565e-06	0.361761	1	0
SERPINA3	12	broad.mit.edu	37	14	95080889	95080889	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:95080889G>T	ENST00000553947.1	+	5	1074	c.186G>T	c.(184-186)gaG>gaT	p.E62D	SERPINA3_ENST00000393078.3_Missense_Mutation_p.E37D|SERPINA3_ENST00000467132.1_Missense_Mutation_p.E37D|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Missense_Mutation_p.E37D			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	37					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.E37D(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGACCCAGGAGAACCAAGACC	0.587000													11	64					1.58986e-06	2.15565e-06	0.361761	1	0
CR2	1380	broad.mit.edu	37	1	207647191	207647191	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:207647191G>C	ENST00000367057.3	+	12	2390	c.2201G>C	c.(2200-2202)gGt>gCt	p.G734A	CR2_ENST00000367059.3_Missense_Mutation_p.G675A|CR2_ENST00000458541.2_Missense_Mutation_p.G648A|CR2_ENST00000367058.3_Missense_Mutation_p.G675A	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	796	Sushi 12.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.G734A(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTTCCAGCTGGTTCACGTGTG	0.413000													7	85					0	0	0.248553	0	0
VPS36	51028	broad.mit.edu	37	13	53010452	53010452	+	Silent	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr13:53010452G>C	ENST00000378060.4	-	4	351	c.324C>G	c.(322-324)ctC>ctG	p.L108L	VPS36_ENST00000480923.1_5'UTR	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	108	GLUE C-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.L108L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CTTTGAAGGAGAGTTTGATGT	0.428000													7	14					0	0	0.278610	0	0
PKP2	5318	broad.mit.edu	37	12	33049567	33049567	+	Silent	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:33049567G>T	ENST00000340811.4	-	1	207	c.99C>A	c.(97-99)ccC>ccA	p.P33P	PKP2_ENST00000070846.6_Silent_p.P33P	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	33					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.P33P(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGCCTCGGAGGGCAGCGCCA	0.706000													6	7					0.00116845	0.0013614	0.217242	1	0
DHX57	90957	broad.mit.edu	37	2	39050300	39050300	+	Silent	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:39050300G>A	ENST00000295373.6	-	17	3252	c.3126C>T	c.(3124-3126)gaC>gaT	p.D1042D		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1042							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.D1042D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATGCTCCTAAGTCTCGTAATC	0.448000													11	56					0	0	0.411799	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139522	68139522	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:68139522C>A	ENST00000262215.3	-	27	4155	c.3766G>T	c.(3766-3768)Gtt>Ttt	p.V1256F	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.V710F|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.V94F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1256					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.V1256F(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CACCGTACAACCATATCTCGA	0.358000													29	92					9.80776e-20	1.63893e-19	0.706142	1	0
MAP3K9	4293	broad.mit.edu	37	14	71197312	71197312	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:71197312A>T	ENST00000554752.2	-	12	3099	c.3100T>A	c.(3100-3102)Tcc>Acc	p.S1034T	MAP3K9_ENST00000555993.2_Missense_Mutation_p.S1048T|MAP3K9_ENST00000553414.1_Missense_Mutation_p.S767T|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S1011T|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S762T			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1034	Ser-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.S1048T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCAAAGCAGGAGTCCAGGTTG	0.667000													4	48					0	0	0.184627	0	0
PTPRB	5787	broad.mit.edu	37	12	70949913	70949913	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:70949913T>C	ENST00000334414.6	-	19	4774	c.4730A>G	c.(4729-4731)cAa>cGa	p.Q1577R	PTPRB_ENST00000538708.1_Missense_Mutation_p.Q1269R|PTPRB_ENST00000451516.2_Missense_Mutation_p.Q1269R|PTPRB_ENST00000261266.5_Missense_Mutation_p.Q1359R|PTPRB_ENST00000550358.1_Missense_Mutation_p.Q1489R|PTPRB_ENST00000550857.1_Missense_Mutation_p.Q1269R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1359					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q1359R(2)|p.Q1577R(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGCAGGTTTTGTATCTTGTC	0.453000													3	10					0	0	0.150653	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871474	51871474	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:51871474G>A	ENST00000371497.5	+	2	2364	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N	TSHZ2_ENST00000603338.2_Missense_Mutation_p.D490N|TSHZ2_ENST00000329613.6_Missense_Mutation_p.D490N	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	493					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D493N(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAACCTTTAGACCCTACAAT	0.408000													9	42					0	0	0.307466	0	0
SYN2	6854	broad.mit.edu	37	3	12183494	12183494	+	RNA	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:12183494C>T	ENST00000432424.2	+	0	697							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	p.V106V(1)		breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CAAAGGTTGTCCGGTAAGGGT	0.493000													4	30					0	0	0.184627	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120351059	120351059	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:120351059A>G	ENST00000397843.2	+	38	4323	c.4157A>G	c.(4156-4158)gAa>gGa	p.E1386G	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.E1367G|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.E1283G	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1386					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E1386G(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GATGCCCGTGAAGCACATAGT	0.438000			T	MLL	AML								4	58					0	0	0.150653	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603978	140603978	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:140603978G>T	ENST00000239449.4	+	1	901	c.901G>T	c.(901-903)Gtt>Ttt	p.V301F	PCDHB14_ENST00000515856.2_Missense_Mutation_p.V148F	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		301	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.V301F(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGGGAAGTTAATTTGAG	0.368000													10	41					3.07112e-06	4.1056e-06	0.387290	1	0
ACACB	32	broad.mit.edu	37	12	109694035	109694035	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:109694035G>T	ENST00000338432.7	+	45	6376	c.6257G>T	c.(6256-6258)cGa>cTa	p.R2086L	ACACB_ENST00000377854.5_Missense_Mutation_p.R2016L|ACACB_ENST00000377848.3_Missense_Mutation_p.R2086L|ACACB_ENST00000543201.1_Missense_Mutation_p.R752L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2086	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.R2086L(1)|p.R752L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GTGACAGGACGAGCAAGGTAA	0.592000													10	15					0.000442599	0.000530284	0.335167	1	0
ITIH5	80760	broad.mit.edu	37	10	7608274	7608274	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:7608274T>C	ENST00000256861.6	-	13	2324	c.2246A>G	c.(2245-2247)aAc>aGc	p.N749S	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.N531S|ITIH5_ENST00000298441.6_Missense_Mutation_p.N535S	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	749					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.N749S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTCTGGCTTGTTGATGAGGAT	0.547000													3	14					0	0	0.115264	0	0
MST1L	11223	broad.mit.edu	37	1	17083685	17083685	+	RNA	SNP	C	C	A	rs3197973	by1000genomes	TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:17083685C>A	ENST00000455405.2	-	0	903																											ACTGTACTTACAAGTTTTGTC	0.403000													3	24					0.00909568	0.0101034	0.150653	1	0
OVCH1	341350	broad.mit.edu	37	12	29596369	29596369	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:29596369T>G	ENST00000318184.5	-	25	3081	c.3082A>C	c.(3082-3084)Atg>Ctg	p.M1028L	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1028					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.M1028L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTTGGCTTCATCGGGAAGTTA	0.358000													10	103					0	0	0.361761	0	0
FAM179A	165186	broad.mit.edu	37	2	29247185	29247185	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:29247185G>T	ENST00000379558.4	+	13	2149	c.1798G>T	c.(1798-1800)Gtg>Ttg	p.V600L	FAM179A_ENST00000403861.2_Missense_Mutation_p.V545L|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	600							binding	p.V600L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGGGCTATGGTGGAGAATGT	0.632000													3	9					0.004672	0.00523539	0.115264	1	0
MECR	51102	broad.mit.edu	37	1	29543143	29543143	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:29543143C>A	ENST00000263702.6	-	2	256	c.231G>T	c.(229-231)atG>atT	p.M77I	MECR_ENST00000373791.3_Start_Codon_SNP_p.M1I|MECR_ENST00000489248.1_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	77					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	p.M77I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GGGCCGCCAGCATCTTCACAC	0.463000													19	132					8.10497e-08	1.14795e-07	0.592651	1	0
PRKRA	8575	broad.mit.edu	37	2	179315752	179315752	+	Silent	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:179315752G>T	ENST00000325748.4	-	1	206	c.6C>A	c.(4-6)tcC>tcA	p.S2S	PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000470200.1_Intron	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	2	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	p.S2S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			GCCTGCTCTGGGACATGGCGA	0.741000													3	18					0.014758	0.0160194	0.184627	1	0
ELMO2	63916	broad.mit.edu	37	20	45003068	45003068	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:45003068C>A	ENST00000372176.1	-	15	1386	c.918G>T	c.(916-918)gaG>gaT	p.E306D	ELMO2_ENST00000439931.2_Missense_Mutation_p.E406D|ELMO2_ENST00000290246.6_Missense_Mutation_p.E394D|ELMO2_ENST00000396391.1_Missense_Mutation_p.E394D|ELMO2_ENST00000454865.2_Missense_Mutation_p.E126D|ELMO2_ENST00000445496.2_Missense_Mutation_p.E211D|ELMO2_ENST00000352077.2_Missense_Mutation_p.E392D			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	394					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	p.E394D(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GGCTACTGTTCTCCAAGACAA	0.542000													3	35					5.9392e-07	8.22849e-07	0.217242	1	0
PNN	5411	broad.mit.edu	37	14	39650219	39650219	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:39650219G>C	ENST00000216832.4	+	9	1373	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	436	Glu-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	p.D436H(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AATTGAGCCAGATAAAGAATG	0.388000													5	43					0	0	0.248553	0	0
CCR4	1233	broad.mit.edu	37	3	32995942	32995942	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:32995942C>T	ENST00000330953.5	+	2	1196	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	343					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		p.P343L(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GCTGACACCCCCAGCTCATCT	0.453000													3	30					0	0	0.115264	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60994229	60994229	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:60994229A>G	ENST00000373880.4	+	2	536	c.272A>G	c.(271-273)gAg>gGg	p.E91G	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.E65G	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	91	Fibronectin type-III.							p.E91G(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AACAAGAAAGAGAACAAGAAC	0.299000													5	35					0	0	0.184627	0	0
PSG9	5678	broad.mit.edu	37	19	43762451	43762451	+	Silent	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:43762451G>T	ENST00000244293.7	-	4	933	c.867C>A	c.(865-867)ccC>ccA	p.P289P	PSG9_ENST00000291752.5_Silent_p.P196P|PSG9_ENST00000270077.3_Silent_p.P382P|PSG9_ENST00000418820.2_Silent_p.P289P|PSG9_ENST00000596730.1_Silent_p.P196P|PSG9_ENST00000593948.1_Silent_p.P289P|PSG9_ENST00000443718.3_Silent_p.P289P			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	298	Ig-like C2-type 2.				female pregnancy	extracellular region		p.P382P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TAGTAATTTGGGGGATAAAGA	0.443000													63	96					2.73361e-28	4.67043e-28	0.870114	1	0
CTNND2	1501	broad.mit.edu	37	5	11364914	11364914	+	Silent	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:11364914G>C	ENST00000304623.8	-	8	1455	c.1266C>G	c.(1264-1266)ccC>ccG	p.P422P	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.P331P|CTNND2_ENST00000503622.1_Silent_p.P85P|CTNND2_ENST00000359640.2_Silent_p.P422P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	422					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.P422P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTTCATAGATGGGATCTATGT	0.607000													7	40					0	0	0.248553	0	0
ASAP1	50807	broad.mit.edu	37	8	131130904	131130904	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:131130904T>C	ENST00000357668.1	-	18	1652	c.1625A>G	c.(1624-1626)tAt>tGt	p.Y542C	ASAP1_ENST00000518721.1_Missense_Mutation_p.Y542C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	542	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.Y542C(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGCAGTGATATATTCTTTTCG	0.333000													9	47					0	0	0.307466	0	0
STX2	2054	broad.mit.edu	37	12	131311793	131311793	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:131311793C>G	ENST00000261653.6	-	2	216	c.50G>C	c.(49-51)gGa>gCa	p.G17A	STX2_ENST00000392373.2_Missense_Mutation_p.G17A	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	17					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	p.G17A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		AACTGTGTCTCCATCATCATT	0.353000													12	37					0	0	0.479597	0	0
RPRD2	23248	broad.mit.edu	37	1	150443311	150443311	+	Silent	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:150443311G>A	ENST00000401000.4	+	10	1874	c.1809G>A	c.(1807-1809)ttG>ttA	p.L603L	RPRD2_ENST00000539519.1_Silent_p.L603L|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.L629L			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	629	Ser-rich.						protein binding	p.L629L(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCAACTCTTTGGGGTTTACAG	0.498000													12	51					0	0	0.411799	0	0
RSPO4	343637	broad.mit.edu	37	20	948729	948729	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:948729C>A	ENST00000217260.4	-	2	228	c.132G>T	c.(130-132)gaG>gaT	p.E44D	RSPO4_ENST00000400634.2_Missense_Mutation_p.E44D	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	44					Wnt receptor signaling pathway	extracellular region	heparin binding	p.E44D(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AACAGCCGTTCTCCTCTGAGC	0.622000													3	49					0.00024832	0.000302268	0.150653	1	0
MAGEC3	139081	broad.mit.edu	37	X	140953329	140953329	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:140953329C>A	ENST00000298296.1	+	2	196	c.196C>A	c.(196-198)Ctg>Atg	p.L66M		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	66								p.L66M(1)		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)					GAGGCTTTTTCTGAGGGGTGG	0.512000													15	27					3.41278e-10	5.0991e-10	0.520397	1	0
KIAA1614	57710	broad.mit.edu	37	1	180887047	180887047	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:180887047A>G	ENST00000367588.4	+	3	1113	c.1058A>G	c.(1057-1059)aAc>aGc	p.N353S		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	353								p.N353S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCGGCCAGAACAGGTAAGAG	0.562000													4	44					0	0	0.184627	0	0
SYCE2	256126	broad.mit.edu	37	19	13011369	13011369	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:13011369G>A	ENST00000293695.7	-	4	418	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	134					cell division	central element		p.Q134*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						GCCATTTTCTGGGTGAACTCT	0.448000													21	62					0	0	0.575678	0	0
TRBV19	28568	broad.mit.edu	37	7	142327036	142327036	+	RNA	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:142327036A>T	ENST00000390393.3	+	0	542																											TCTCTGTGCCAGTAGTATAGA	0.532000													16	110					0	0	0.520397	0	0
MGAM	8972	broad.mit.edu	37	7	141727437	141727437	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:141727437T>A	ENST00000475668.2	+	10	1177	c.1123T>A	c.(1123-1125)Tac>Aac	p.Y375N	MGAM_ENST00000549489.2_Missense_Mutation_p.Y375N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	375	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.Y375N(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTTCCCTCCTACTGGGCGCT	0.438000													7	42					0	0	0.361761	0	0
AMFR	267	broad.mit.edu	37	16	56423276	56423276	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:56423276C>G	ENST00000290649.5	-	9	1307	c.1097G>C	c.(1096-1098)cGt>cCt	p.R366P		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	366					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	p.R366P(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TAGCCAGGAACGAAGACAGGA	0.428000													9	39					0	0	0.307466	0	0
CALR	811	broad.mit.edu	37	19	13050438	13050438	+	Silent	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:13050438C>T	ENST00000316448.5	+	3	463	c.390C>T	c.(388-390)atC>atT	p.I130I		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	130	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	p.I130I(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATACAACATCATGTTTGGTG	0.458000													22	107					0	0	0.667858	0	0
CDH12	1010	broad.mit.edu	37	5	21755753	21755753	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:21755753C>T	ENST00000382254.1	-	14	2918	c.1832G>A	c.(1831-1833)gGa>gAa	p.G611E	CDH12_ENST00000504376.2_Missense_Mutation_p.G611E|CDH12_ENST00000522262.1_Missense_Mutation_p.G571E|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	611					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G611E(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGTGCTAAGTCCTACAGGTAG	0.398000										HNSCC(59;0.17)			3	40					0	0	0.115264	0	0
AKNA	80709	broad.mit.edu	37	9	117143439	117143439	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:117143439A>C	ENST00000307564.4	-	2	336	c.175T>G	c.(175-177)Ttc>Gtc	p.F59V	AKNA_ENST00000374088.3_Missense_Mutation_p.F59V|AKNA_ENST00000312033.3_Missense_Mutation_p.F59V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.F59V(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCCAGGCGGAAGTCCTCTAGG	0.612000													4	17					0	0	0.150653	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100649235	100649235	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:100649235C>G	ENST00000268070.4	-	14	2080	c.1975G>C	c.(1975-1977)Ggg>Cgg	p.G659R		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	659	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G659R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TCGTAGGGCCCGCAGGGTGTA	0.612000													9	26					0	0	0.307466	0	0
ARPP21	10777	broad.mit.edu	37	3	35748527	35748527	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:35748527T>A	ENST00000187397.4	+	10	1204	c.748T>A	c.(748-750)Ttt>Att	p.F250I	ARPP21_ENST00000458225.1_Missense_Mutation_p.F250I|ARPP21_ENST00000444190.1_Missense_Mutation_p.F250I|ARPP21_ENST00000337271.5_Missense_Mutation_p.F250I|ARPP21_ENST00000417925.1_Missense_Mutation_p.F250I	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	250						cytoplasm	nucleic acid binding	p.F250I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCAGAAGCGGTTTATCTTGAA	0.368000													6	53					0	0	0.278610	0	0
OR51S1	119692	broad.mit.edu	37	11	4870218	4870218	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:4870218A>G	ENST00000322101.2	-	1	296	c.221T>C	c.(220-222)cTt>cCt	p.L74P	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L74P(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGACACACTAAGCAAGAAGAG	0.572000													6	47					0	0	0.307466	0	0
VPS13C	54832	broad.mit.edu	37	15	62292765	62292765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:62292765C>A	ENST00000261517.5	-	16	1424	c.1351G>T	c.(1351-1353)Gag>Tag	p.E451*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E451*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E408*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E408*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	451					protein localization			p.E451*(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATGATTACCTCAACTTGTGCT	0.318000													4	16					0.0293803	0.0314436	0.248553	1	0
EPHA10	284656	broad.mit.edu	37	1	38227423	38227423	+	Silent	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:38227423C>T	ENST00000373048.4	-	3	503	c.504G>A	c.(502-504)gaG>gaA	p.E168E	EPHA10_ENST00000319637.6_Silent_p.E168E|EPHA10_ENST00000427468.2_Silent_p.E168E	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	168						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.E168E(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCATCTTGCGCTCACCCAGGT	0.692000													13	33					0	0	0.457914	0	0
COL1A2	1278	broad.mit.edu	37	7	94039035	94039035	+	Splice_Site	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:94039035G>T	ENST00000297268.6	+	19	1408	c.936_splice	c.e19-1	p.G313_splice		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	313					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G313C(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCTTCACAGGGCCTTCCCGG	0.562000										HNSCC(75;0.22)			6	56					2.0095e-06	2.71496e-06	0.248553	1	0
NKD2	85409	broad.mit.edu	37	5	1038188	1038188	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:1038188C>A	ENST00000296849.5	+	10	1285	c.1056C>A	c.(1054-1056)gcC>gcA	p.A352A	NKD2_ENST00000382730.2_Intron|NKD2_ENST00000274150.4_3'UTR	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	352	Interaction with TGFA.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.A352E(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CCGGGAAAGCCTTCAGCTACT	0.721000													5	22					0.000602214	0.000712558	0.184627	1	0
YPEL3	83719	broad.mit.edu	37	16	30106460	30106460	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:30106460T>C	ENST00000562641.1	-	2	768	c.239A>G	c.(238-240)cAg>cGg	p.Q80R	YPEL3_ENST00000563788.1_Missense_Mutation_p.Q42R|YPEL3_ENST00000398838.4_Missense_Mutation_p.Q42R|YPEL3_ENST00000566595.1_Missense_Mutation_p.Q42R|YPEL3_ENST00000398841.1_Missense_Mutation_p.Q80R|YPEL3_ENST00000566134.1_Missense_Mutation_p.Q42R|YPEL3_ENST00000565479.1_5'UTR			P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	42						nucleolus		p.Q80R(1)		endometrium(1)|lung(2)	3						CTGACTGCCCTGGAAGGACTA	0.617000													4	18					0	0	0.150653	0	0
PRDM9	56979	broad.mit.edu	37	5	23527423	23527423	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:23527423C>G	ENST00000296682.3	+	11	2408	c.2226C>G	c.(2224-2226)caC>caG	p.H742Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	742					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.H742Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGGACACACACAGGGGAGA	0.587000										HNSCC(3;0.000094)			6	51					0	0	0.361761	0	0
PCDH10	57575	broad.mit.edu	37	4	134073399	134073399	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:134073399C>A	ENST00000264360.4	+	1	2930	c.2104C>A	c.(2104-2106)Ccc>Acc	p.P702T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	702					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P702T(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCACCAGCGCCCCAGTCGCTC	0.677000													5	38					0.014758	0.0160194	0.184627	1	0
TIMELESS	8914	broad.mit.edu	37	12	56827699	56827699	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:56827699C>A	ENST00000229201.4	-	3	263	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	TIMELESS_ENST00000554616.1_Missense_Mutation_p.D37Y|TIMELESS_ENST00000553532.1_Missense_Mutation_p.D37Y	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	37					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.D37Y(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CGGATCAGATCCTTCACGCTC	0.522000													4	72					3.59834e-05	4.58517e-05	0.217242	1	0
CRIM1	51232	broad.mit.edu	37	2	36749417	36749417	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:36749417C>A	ENST00000280527.2	+	13	2756	c.2389C>A	c.(2389-2391)Cct>Act	p.P797T		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	797	VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.P797T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTGTGAAAGACCTGTCTTGAG	0.448000													13	84					7.93312e-07	1.08724e-06	0.457914	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698305	111698305	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:111698305G>T	ENST00000340433.2	+	1	579	c.349G>T	c.(349-351)Gac>Tac	p.D117Y		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	117							nucleic acid binding|zinc ion binding	p.D117Y(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATCTGGGCCTGACAAGAGTAC	0.398000													15	32					0.000308642	0.000372128	0.479597	1	0
INCENP	3619	broad.mit.edu	37	11	61897387	61897387	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:61897387G>T	ENST00000394818.3	+	4	590	c.388G>T	c.(388-390)Gca>Tca	p.A130S	INCENP_ENST00000278849.4_Missense_Mutation_p.A130S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	130					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	p.A130S(2)		breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTGCGGCTGCAGCTGCCGC	0.637000													8	48					2.17888e-05	2.81408e-05	0.335167	1	0
OR52N1	79473	broad.mit.edu	37	11	5809935	5809935	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:5809935T>A	ENST00000317078.1	-	1	111	c.112A>T	c.(112-114)Agc>Tgc	p.S38C	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S38C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATAGCAATGCTGTACATGGTA	0.463000													3	31					0	0	0.150653	0	0
ALPK1	80216	broad.mit.edu	37	4	113353354	113353354	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:113353354G>T	ENST00000458497.1	+	11	2930	c.2651G>T	c.(2650-2652)aGg>aTg	p.R884M	ALPK1_ENST00000177648.9_Missense_Mutation_p.R884M|ALPK1_ENST00000504176.2_Missense_Mutation_p.R806M	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	884							ATP binding|protein serine/threonine kinase activity	p.R884M(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCTGGTCAGAGGGCGGAGACC	0.562000													8	55					5.18039e-06	6.85323e-06	0.278610	1	0
TBX22	50945	broad.mit.edu	37	X	79278684	79278684	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:79278684C>A	ENST00000373294.5	+	2	329	c.301C>A	c.(301-303)Ctg>Atg	p.L101M	TBX22_ENST00000373291.1_5'UTR|TBX22_ENST00000373296.3_Missense_Mutation_p.L101M|TBX22_ENST00000442340.1_5'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	101					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L101M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGGATCTGAACTGTGGAAAAG	0.498000													5	18					0.0215528	0.0231966	0.217242	1	0
TEX15	56154	broad.mit.edu	37	8	30702510	30702510	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:30702510C>A	ENST00000256246.2	-	1	4098	c.4024G>T	c.(4024-4026)Gtg>Ttg	p.V1342L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1342								p.V1342L(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTATCTGTCACTGCAGCGGCT	0.383000													19	85					3.73194e-20	6.29145e-20	0.592651	1	0
INADL	10207	broad.mit.edu	37	1	62329964	62329964	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:62329964G>T	ENST00000371158.2	+	20	2608	c.2494G>T	c.(2494-2496)Gat>Tat	p.D832Y	INADL_ENST00000316485.6_Missense_Mutation_p.D832Y	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	832					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.D832Y(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACCATTTCTAGATCTGGGAAA	0.383000													8	64					0.000157383	0.000192189	0.278610	1	0
KDR	3791	broad.mit.edu	37	4	55955049	55955049	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:55955049C>G	ENST00000263923.4	-	26	3791	c.3496G>C	c.(3496-3498)Gct>Cct	p.A1166P	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1166					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.A1166P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGCATTAGCTTGCAAGAGA	0.502000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			4	17					0	0	0.150653	0	0
PRR23B	389151	broad.mit.edu	37	3	138739120	138739120	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:138739120C>A	ENST00000329447.5	-	1	648	c.384G>T	c.(382-384)ctG>ctT	p.L128L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	128								p.L128L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGACAGCGCCCAGGAAAACGT	0.647000													6	41					0.000274275	0.000331742	0.307466	1	0
RIMS2	9699	broad.mit.edu	37	8	105105732	105105732	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:105105732G>T	ENST00000436393.2	+	21	2996	c.2755G>T	c.(2755-2757)Gat>Tat	p.D919Y	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	373					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGAGGGGCAGATAATGTTTC	0.403000										HNSCC(12;0.0054)			29	113					9.65021e-13	1.50071e-12	0.750413	1	0
DNAH9	1770	broad.mit.edu	37	17	11556163	11556163	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:11556163G>T	ENST00000262442.3	+	14	2507	c.2439G>T	c.(2437-2439)gaG>gaT	p.E813D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E813D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	813	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E813D(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGTGGAAGAGATCCAAAACA	0.378000													20	50					1.55795e-14	2.53666e-14	0.608945	1	0
NELL1	4745	broad.mit.edu	37	11	20699489	20699489	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:20699489G>T	ENST00000298925.5	+	3	304	c.151G>T	c.(151-153)Ggg>Tgg	p.G51W	NELL1_ENST00000357134.5_Missense_Mutation_p.G23W|NELL1_ENST00000325319.5_Missense_Mutation_p.G23W|NELL1_ENST00000532434.1_Missense_Mutation_p.G23W			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	23					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.G23W(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGTGGGCTTTGGGATGGACCC	0.502000													10	55					3.86212e-05	4.87241e-05	0.361761	1	0
LOC286238	286238	broad.mit.edu	37	9	91262377	91262377	+	RNA	SNP	A	A	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:91262377A>G	ENST00000418343.2	-	0	374																											GCCACAGGGAAGCATGTCCCG	0.438000													10	36					0	0	0.361761	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72191385	72191385	+	Splice_Site	SNP	A	A	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:72191385A>C	ENST00000555818.1	+	17	4859		c.e17-1		SIPA1L1_ENST00000554874.1_Splice_Site|SIPA1L1_ENST00000358550.2_Splice_Site|SIPA1L1_ENST00000537413.1_Splice_Site|SIPA1L1_ENST00000381232.3_Splice_Site	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1						actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTTTTGTCCAGGCGTCATCA	0.493000													4	24					0	0	0.150653	0	0
MUC17	140453	broad.mit.edu	37	7	100680387	100680387	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:100680387C>T	ENST00000306151.4	+	3	5754	c.5690C>T	c.(5689-5691)cCt>cTt	p.P1897L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1897	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P1897L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCAGCACACCTGTGACCACT	0.498000													72	214					0	0	0.870114	0	0
FLG2	388698	broad.mit.edu	37	1	152325389	152325389	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:152325389C>G	ENST00000388718.5	-	3	4945	c.4873G>C	c.(4873-4875)Gga>Cga	p.G1625R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1625							calcium ion binding|structural molecule activity	p.G1625R(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGTATCTCCTATCTGTCCA	0.507000													13	318					0	0	0.479597	0	0
OR2V2	285659	broad.mit.edu	37	5	180582367	180582367	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:180582367G>C	ENST00000328275.1	+	1	425	c.425G>C	c.(424-426)tGt>tCt	p.C142S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C142S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAGGGTCTGTCTCCAGATT	0.522000													6	77					0	0	0.248553	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65194383	65194383	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:65194383A>G	ENST00000247226.7	+	2	342	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S12G	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	12	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.S12G(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCAGGATGGCAGCCAGGAGCG	0.647000													3	14					0	0	0.115264	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68699044	68699044	+	Silent	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:68699044G>T	ENST00000283916.6	-	7	668	c.570C>A	c.(568-570)ggC>ggA	p.G190G	TMPRSS11D_ENST00000545541.1_Silent_p.G73G|TMPRSS11D_ENST00000509584.1_5'UTR|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	190	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.G190G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CAGCCTCAGTGCCTCCAAGGA	0.512000													15	111					6.33239e-15	1.03547e-14	0.592651	1	0
IRX2	153572	broad.mit.edu	37	5	2748740	2748740	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:2748740G>A	ENST00000382611.6	-	3	1330	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	IRX2_ENST00000302057.5_Missense_Mutation_p.A361V	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	361						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A361V(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CCCGGTTGAggccggcgcggc	0.736000													4	13					0	0	0.184627	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618340	175618340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:175618340G>T	ENST00000348749.5	-	6	746	c.669C>A	c.(667-669)taC>taA	p.Y223*	CHRNA1_ENST00000409542.1_Nonsense_Mutation_p.Y141*|CHRNA1_ENST00000409323.1_Nonsense_Mutation_p.Y223*|CHRNA1_ENST00000409219.1_Nonsense_Mutation_p.Y223*|CHRNA1_ENST00000261007.5_Nonsense_Mutation_p.Y248*|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	248					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.Y248*(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TGACGAAGTGGTAGGTGATGT	0.587000													5	51					0.014758	0.0160194	0.184627	1	0
CCNB1IP1	57820	broad.mit.edu	37	14	20784496	20784496	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:20784496G>A	ENST00000398169.3	-	5	803	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.R63C|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.R63C			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	63						chromosome|nucleus	ligase activity|metal ion binding|protein binding	p.R63C(1)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AGTTCTGTGCGGACAATATCT	0.502000			T	HMGA2	leiomyoma								3	48					0	0	0.115264	0	0
ALPI	248	broad.mit.edu	37	2	233321897	233321897	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:233321897G>C	ENST00000295463.3	+	5	590	c.513G>C	c.(511-513)caG>caC	p.Q171H		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	171					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.Q171H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACGGGTGCAGCACGCCTCGC	0.632000													7	41					0	0	0.278610	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110561279	110561279	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:110561279G>T	ENST00000260283.4	-	3	463	c.179C>A	c.(178-180)cCt>cAt	p.P60H	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P24H|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P37H|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P34H|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P24H|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P34H	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	60					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P60H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCTGGTAGTAGGCCGTTTTTG	0.373000													4	52					0.00909568	0.0101034	0.150653	1	0
GCNT1	2650	broad.mit.edu	37	9	79117888	79117888	+	Silent	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:79117888C>G	ENST00000442371.1	+	3	1530	c.591C>G	c.(589-591)ctC>ctG	p.L197L	GCNT1_ENST00000376730.4_Silent_p.L197L|GCNT1_ENST00000444201.2_Silent_p.L197L|GCNT1_ENST00000536223.1_Silent_p.L197L	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	197	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.L197L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AGGCTGACCTCAACTGCATGA	0.448000													18	45					0	0	0.539581	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22354578	22354578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:22354578C>A	ENST00000396037.4	-	5	1460	c.979G>T	c.(979-981)Gaa>Taa	p.E327*	ST8SIA1_ENST00000539510.1_Nonsense_Mutation_p.E184*	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	327					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.E327*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TGGAGAAATTCCTCGGGCATG	0.498000													9	71					0.000673444	0.00079192	0.361761	1	0
NRN1L	123904	broad.mit.edu	37	16	67919707	67919707	+	Silent	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:67919707C>T	ENST00000339176.3	+	2	261	c.162C>T	c.(160-162)atC>atT	p.I54I	CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_5'UTR	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	54						anchored to membrane|plasma membrane		p.I54I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		AGTGTCTCATCCGCTTGGGGG	0.647000													14	59					0	0	0.520397	0	0
RTN3	10313	broad.mit.edu	37	11	63488495	63488495	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:63488495G>C	ENST00000377819.5	+	3	2675	c.2521G>C	c.(2521-2523)Gac>Cac	p.D841H	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.D729H|RTN3_ENST00000339997.4_Missense_Mutation_p.D822H|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	841					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		p.D822H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ACTTCTGACAGACTTCTCAGG	0.383000													8	39					0	0	0.387290	0	0
DHX33	56919	broad.mit.edu	37	17	5364391	5364391	+	Silent	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:5364391G>A	ENST00000225296.3	-	4	917	c.717C>T	c.(715-717)ttC>ttT	p.F239F	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	239	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.F239F(2)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AATACTGAGAGAACAGGTCCA	0.512000													12	97					0	0	0.457914	0	0
MYO18B	84700	broad.mit.edu	37	22	26423476	26423476	+	Silent	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr22:26423476C>T	ENST00000335473.7	+	43	7786	c.7536C>T	c.(7534-7536)tcC>tcT	p.S2512S	MYO18B_ENST00000536101.1_Silent_p.S2512S|MYO18B_ENST00000407587.2_Silent_p.S2513S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2512	Poly-Ser.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.S2513S(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTCATCCTCCGGCTCCATCG	0.582000													4	19					0	0	0.150653	0	0
COL21A1	81578	broad.mit.edu	37	6	55924883	55924883	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:55924883C>G	ENST00000244728.5	-	28	2938	c.2541G>C	c.(2539-2541)ttG>ttC	p.L847F	COL21A1_ENST00000370808.2_Missense_Mutation_p.L213F|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.L847F|COL21A1_ENST00000370819.1_Missense_Mutation_p.L844F	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	847	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.L847F(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCTTCCTGGCAAACCAGGTA	0.498000													10	37					0	0	0.387290	0	0
BPIFB3	359710	broad.mit.edu	37	20	31643259	31643259	+	Silent	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:31643259C>T	ENST00000375494.3	+	1	30	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	10	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.S10S(1)									CCCTGTGGTCCCTGCTTCTGC	0.592000													6	92					0	0	0.307466	0	0
FGF18	8817	broad.mit.edu	37	5	170883632	170883632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:170883632G>A	ENST00000274625.5	+	5	991	c.447G>A	c.(445-447)tgG>tgA	p.W149*		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	149					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	p.W149*(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACTCCGGCTGGTACGTGGGCT	0.617000													9	92					0	0	0.335167	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33662024	33662024	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:33662024G>T	ENST00000504830.1	-	6	1372	c.1037C>A	c.(1036-1038)aCc>aAc	p.T346N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T346N|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	346	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T346N(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTGTACCTGGTGAGAAGGAC	0.498000										HNSCC(64;0.19)			12	66					1.5842e-08	2.28629e-08	0.435327	1	0
SLC35F1	222553	broad.mit.edu	37	6	118588223	118588223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:118588223C>A	ENST00000360388.4	+	4	744	c.543C>A	c.(541-543)taC>taA	p.Y181*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	181					transport	integral to membrane		p.Y181*(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TGATCCGGTACAAGGCTGTGC	0.522000													77	184					8.00303e-49	1.37349e-48	0.870114	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232534931	232534931	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:232534931G>T	ENST00000366630.1	-	22	5469	c.5111C>A	c.(5110-5112)aCa>aAa	p.T1704K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.T1704K|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.T760K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1704					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.T1704K(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGCTGAGCTGTCGCGGTCTG	0.517000													7	33					0.27861	0.280081	0.278610	1	0
HIC2	23119	broad.mit.edu	37	22	21800489	21800489	+	Silent	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr22:21800489G>T	ENST00000443632.2	+	2	1677	c.1305G>T	c.(1303-1305)gtG>gtT	p.V435V	HIC2_ENST00000407464.2_Silent_p.V435V|HIC2_ENST00000407598.2_Silent_p.V435V			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	435					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	p.V435V(1)		NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACGAGACGGTGTCCTACGGGG	0.627000													5	80					0.000157383	0.000192189	0.278610	1	0
DNAJC13	23317	broad.mit.edu	37	3	132198072	132198072	+	Splice_Site	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:132198072G>A	ENST00000260818.6	+	25	2959	c.2709_splice	c.e25-1	p.C904_splice		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	904							heat shock protein binding	p.C904Y(1)|p.C287Y(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTTCAATAGTGCACAGATAAA	0.308000													3	40					0	0	0.150653	0	0
GRIA4	2893	broad.mit.edu	37	11	105797526	105797526	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:105797526C>T	ENST00000393127.2	+	13	2353	c.1907C>T	c.(1906-1908)tCa>tTa	p.S636L	GRIA4_ENST00000282499.5_Missense_Mutation_p.S636L|GRIA4_ENST00000525187.1_Missense_Mutation_p.S636L|GRIA4_ENST00000530497.1_Missense_Mutation_p.S636L	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	636					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.S636L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATCATTATATCATCTTATACT	0.408000													10	81					0	0	0.411799	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176239	140176239	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:140176239G>T	ENST00000526136.1	+	1	1690	c.1690G>T	c.(1690-1692)Gca>Tca	p.A564S	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A564S|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A564S|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1												p.A564S(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGCCGGCACTGTTGGC	0.697000													8	58					0.00307968	0.00349214	0.278610	1	0
SEPT7	989	broad.mit.edu	37	7	35913313	35913313	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:35913313G>T	ENST00000494488.2	+	5	398	c.398G>T	c.(397-399)cGa>cTa	p.R133L	SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000399035.3_Missense_Mutation_p.R146L|SEPT7_ENST00000350320.6_Missense_Mutation_p.R146L|SEPT7_ENST00000469679.2_Missense_Mutation_p.R146L|SEPT7_ENST00000399034.2_Missense_Mutation_p.R148L|SEPT7_ENST00000435235.1_Missense_Mutation_p.R94L			Q16181	SEPT7_HUMAN	septin 7	147					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.R148L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GCAGAATCACGAGTGAACAGA	0.408000													14	29					0.00185496	0.00214163	0.435327	1	0
FBXL5	26234	broad.mit.edu	37	4	15627406	15627406	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:15627406G>C	ENST00000341285.3	-	9	1443	c.1319C>G	c.(1318-1320)tCc>tGc	p.S440C	FBXL5_ENST00000382358.4_Missense_Mutation_p.S314C|FBXL5_ENST00000412094.2_Missense_Mutation_p.S423C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	440					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	p.S440C(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTGCTTGGTGGACTGCATGGT	0.393000													17	72					0	0	0.520397	0	0
NIN	51199	broad.mit.edu	37	14	51192620	51192620	+	Silent	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:51192620G>A	ENST00000382041.3	-	30	6433	c.6243C>T	c.(6241-6243)aaC>aaT	p.N2081N	NIN_ENST00000245441.5_Intron|NIN_ENST00000382043.4_Silent_p.N1368N|NIN_ENST00000324330.9_3'UTR|NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991.1	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2081					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	p.N2087N(1)|p.N2081N(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TAAAACTGGAGTTAAAGCTGG	0.373000			T	PDGFRB	MPD								5	69					0	0	0.184627	0	0
DACT1	51339	broad.mit.edu	37	14	59112816	59112816	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:59112816G>A	ENST00000395153.3	+	4	1511	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K	DACT1_ENST00000395151.3_Missense_Mutation_p.R211K|DACT1_ENST00000541264.2_Missense_Mutation_p.R211K|DACT1_ENST00000556859.1_Missense_Mutation_p.R211K|DACT1_ENST00000335867.4_Missense_Mutation_p.R492K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	492					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.R492K(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGTCCTAGCAGAGGCCCTGCC	0.607000													11	80					0	0	0.361761	0	0
LAMA1	284217	broad.mit.edu	37	18	7049207	7049207	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr18:7049207G>T	ENST00000389658.3	-	5	731	c.638C>A	c.(637-639)cCc>cAc	p.P213H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	213	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.P213H(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAACAACTTGGGTGAAAGATC	0.418000													11	69					0.00010058	0.000124419	0.411799	1	0
TRPA1	8989	broad.mit.edu	37	8	72963077	72963077	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:72963077T>C	ENST00000262209.4	-	15	2048	c.1841A>G	c.(1840-1842)cAt>cGt	p.H614R	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	614						integral to plasma membrane		p.H614R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGGAGAATTATGACTGAAAAT	0.338000													5	56					0	0	0.184627	0	0
GABRR1	2569	broad.mit.edu	37	6	89895098	89895098	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:89895098T>C	ENST00000435811.1	-	6	1130	c.676A>G	c.(676-678)Atc>Gtc	p.I226V	GABRR1_ENST00000369451.3_Missense_Mutation_p.I156V|GABRR1_ENST00000454853.2_Missense_Mutation_p.I243V	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	243					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.I237V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GAGAGTGAGATCCGTTCATCT	0.493000													6	80					0	0	0.217242	0	0
KCNH8	131096	broad.mit.edu	37	3	19295179	19295179	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:19295179C>T	ENST00000328405.2	+	2	376	c.110C>T	c.(109-111)gCt>gTt	p.A37V		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	37	PAS.					integral to membrane	two-component sensor activity	p.A37V(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCCCAGGTGGCTAAGGGTTTC	0.438000													20	120					0	0	0.639603	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533648	156533648	+	Silent	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:156533648G>T	ENST00000307851.4	-	2	1114	c.384C>A	c.(382-384)gtC>gtA	p.V128V	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.V128V	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	128						integral to membrane		p.V128V(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGTTTGATGACCAACTTCA	0.403000													7	33					0.0381472	0.040598	0.278610	1	0
NBPF1	55672	broad.mit.edu	37	1	16895567	16895567	+	Splice_Site	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:16895567C>A	ENST00000430580.2	-	23	3502		c.e23+1		NBPF1_ENST00000420031.2_Splice_Site|NBPF1_ENST00000432949.1_Intron	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGAGTACTCACCGCCTATGTC	0.493000													39	1301					7.38237e-10	1.09443e-09	0.706142	1	0
SYN2	6854	broad.mit.edu	37	3	12183496	12183496	+	RNA	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:12183496G>C	ENST00000432424.2	+	0	699							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	p.R107P(1)		breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AAGGTTGTCCGGTAAGGGTCT	0.498000													5	30					0	0	0.184627	0	0
RIMS2	9699	broad.mit.edu	37	8	105263934	105263934	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:105263934G>T	ENST00000507740.1	+	22	3614	c.3378G>T	c.(3376-3378)tgG>tgT	p.W1126C	RIMS2_ENST00000436393.2_Missense_Mutation_p.W1330C|RIMS2_ENST00000406091.3_Missense_Mutation_p.W1312C|RIMS2_ENST00000262231.10_Missense_Mutation_p.W1151C|RIMS2_ENST00000339750.2_Missense_Mutation_p.W248C	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1374					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.W1126C(2)|p.W1330C(1)|p.W1312C(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGATCGGATGGTTCAAACTTT	0.463000										HNSCC(12;0.0054)			26	131					5.61819e-17	9.30665e-17	0.693898	1	0
TFAP2D	83741	broad.mit.edu	37	6	50683152	50683152	+	Silent	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:50683152G>T	ENST00000008391.3	+	2	591	c.363G>T	c.(361-363)gcG>gcT	p.A121A		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	121							DNA binding|sequence-specific DNA binding transcription factor activity	p.A121A(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ATGCGCGGGCGCTCAAGTCGT	0.607000													26	60					1.88708e-17	3.13965e-17	0.729181	1	0
ZNF184	7738	broad.mit.edu	37	6	27420578	27420578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:27420578C>A	ENST00000211936.6	-	6	1044	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	ZNF184_ENST00000377419.1_Nonsense_Mutation_p.E254*	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E254*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTTCACATTCATTACATTTG	0.368000													5	131					0.184627	0.187082	0.184627	1	0
OR4C15	81309	broad.mit.edu	37	11	55322518	55322518	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:55322518C>A	ENST00000314644.2	+	1	736	c.736C>A	c.(736-738)Cac>Aac	p.H246N		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H246N(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CACTGATACTCACATCTTTGG	0.443000										HNSCC(20;0.049)			4	29					0.014758	0.0160194	0.184627	1	0
OR10A6	390093	broad.mit.edu	37	11	7949615	7949615	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:7949615C>G	ENST00000309838.2	-	1	594	c.595G>C	c.(595-597)Gca>Cca	p.A199P		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A199P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTGTGAATGCATAGATTTCA	0.383000													6	40					0	0	0.217242	0	0
DSCAML1	57453	broad.mit.edu	37	11	117403175	117403175	+	Missense_Mutation	SNP	C	C	G	rs142110596		TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:117403175C>G	ENST00000321322.6	-	4	755	c.754G>C	c.(754-756)Gcc>Ccc	p.A252P	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	192	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.A252P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGAGAGGGCGTCCTCCTTC	0.557000													4	60					0	0	0.184627	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412931	105412931	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:105412931C>G	ENST00000333244.5	-	7	8976	c.8857G>C	c.(8857-8859)Gca>Cca	p.A2953P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2953						nucleus		p.A2953P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGCTTTGCTCTCGGGGCC	0.632000													26	200					0	0	0.706142	0	0
ZIM2	23619	broad.mit.edu	37	19	57286342	57286342	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:57286342G>C	ENST00000391708.3	-	12	1840	c.1298C>G	c.(1297-1299)gCc>gGc	p.A433G	ZIM2_ENST00000601070.1_Missense_Mutation_p.A433G|ZIM2_ENST00000599935.1_Missense_Mutation_p.A433G|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.A433G|ZIM2_ENST00000221722.5_Missense_Mutation_p.A433G	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2									p.A433G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TGCCTCATGGGCTTTGAGATG	0.463000													13	41					0	0	0.479597	0	0
STAB1	23166	broad.mit.edu	37	3	52540712	52540712	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:52540712G>T	ENST00000321725.6	+	18	1911	c.1835G>T	c.(1834-1836)cGc>cTc	p.R612L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	612	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R612L(1)|p.R612H(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCGCAGGGGCGCATCCTGCTG	0.692000													3	8					0.115264	0.120647	0.115264	1	0
RPE65	6121	broad.mit.edu	37	1	68904894	68904894	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:68904894C>G	ENST00000262340.5	-	8	891	c.838G>C	c.(838-840)Gag>Cag	p.E280Q		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	280					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.E280Q(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TCATTGGACTCAAAACAATCC	0.353000													4	36					0	0	0.184627	0	0
CNTN4	152330	broad.mit.edu	37	3	2787250	2787250	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:2787250G>T	ENST00000397461.1	+	5	611	c.227G>T	c.(226-228)cGc>cTc	p.R76L	CNTN4_ENST00000418658.1_Missense_Mutation_p.R76L|CNTN4_ENST00000427331.1_Missense_Mutation_p.R76L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	76	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.R76L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATGGATTTCCGCTACAGTGTT	0.383000													8	99					0.000442599	0.000530284	0.335167	1	0
HBE1	3046	broad.mit.edu	37	11	5290728	5290728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:5290728C>A	ENST00000380237.1	-	4	615	c.271G>T	c.(271-273)Gag>Tag	p.E91*	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Nonsense_Mutation_p.E91*			P02100	HBE_HUMAN	hemoglobin, epsilon 1	91					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.E91*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGCAGCTCACTCAGCTTA	0.458000													19	63					1.96292e-10	2.94438e-10	0.592651	1	0
STAM2	10254	broad.mit.edu	37	2	153000426	153000426	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:153000426C>T	ENST00000263904.4	-	7	968	c.619G>A	c.(619-621)Gtg>Atg	p.V207M	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	207	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	p.V207M(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		AAAGCTCTCACTTTCCGTGCA	0.323000													6	48					0	0	0.217242	0	0
GPR85	54329	broad.mit.edu	37	7	112724196	112724196	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:112724196A>T	ENST00000501255.2	-	3	1204	c.581T>A	c.(580-582)aTc>aAc	p.I194N	GPR85_ENST00000424100.1_Missense_Mutation_p.I194N|GPR85_ENST00000449591.1_Missense_Mutation_p.I194N|GPR85_ENST00000297146.2_Missense_Mutation_p.I194N	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	194						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I194N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTAGGAGGATGAGAGCAAG	0.468000													6	45					0	0	0.217242	0	0
CCDC138	165055	broad.mit.edu	37	2	109455727	109455727	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:109455727G>C	ENST00000295124.4	+	11	1353	c.1293G>C	c.(1291-1293)tgG>tgC	p.W431C	CCDC138_ENST00000412964.2_Missense_Mutation_p.W431C	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	431										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTATATATTGGTCCCTAAGGC	0.353000													3	83					0	0	0.150653	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647363	33647363	+	Silent	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:33647363G>A	ENST00000558425.1	-	2	236	c.237C>T	c.(235-237)taC>taT	p.Y79Y																								CAGAGTCTGCGTAGTTTGTGT	0.512000													6	188					0	0	0.217242	0	0
CALM1	801	broad.mit.edu	37	14	90870298	90870298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:90870298C>T	ENST00000356978.4	+	4	519	c.271C>T	c.(271-273)Cga>Tga	p.R91*	CALM1_ENST00000544280.2_Nonsense_Mutation_p.R55*|RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000553542.1_Nonsense_Mutation_p.R55*|CALM1_ENST00000447653.3_Nonsense_Mutation_p.R92*	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	91	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.R91*(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	TGAGGCATTCCGAGTCTTTGA	0.383000													4	32					0	0	0.150653	0	0
IGHV4-59	28392	broad.mit.edu	37	14	107083274	107083274	+	RNA	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:107083274G>T	ENST00000455737.1	-	0	369																											AGTAATACACGGCCGTGTCCG	0.592000													17	104					4.87955e-14	7.87759e-14	0.693898	1	0
SPP2	6694	broad.mit.edu	37	2	234969059	234969059	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:234969059T>G	ENST00000168148.3	+	4	468	c.380T>G	c.(379-381)gTg>gGg	p.V127G	SPP2_ENST00000373368.1_Missense_Mutation_p.V127G	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	127					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GCCCAGCAGGTGCAGGGCGTG	0.567000													9	49					0	0	0.361761	0	0
TRPV3	162514	broad.mit.edu	37	17	3431341	3431341	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:3431341G>T	ENST00000301365.4	-	11	1612	c.1481C>A	c.(1480-1482)gCc>gAc	p.A494D	TRPV3_ENST00000576742.1_Missense_Mutation_p.A494D|TRPV3_ENST00000572519.1_Missense_Mutation_p.A494D			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	494						integral to membrane	calcium channel activity	p.A494D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATGCACATGGCCCAGATGAG	0.632000													3	30					0.150653	0.155553	0.150653	1	0
NUDT7	283927	broad.mit.edu	37	16	77775523	77775523	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:77775523C>T	ENST00000564085.1	+	5	556	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	NUDT7_ENST00000437314.3_Silent_p.N78N|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000268533.5_Silent_p.N131N|NUDT7_ENST00000564031.1_3'UTR	NM_001243657.1	NP_001230586.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	0	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	p.N131N(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TAGACCACAACTTCCAGGCCC	0.428000													11	51					0	0	0.361761	0	0
MYLK2	85366	broad.mit.edu	37	20	30408223	30408223	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:30408223G>T	ENST00000375994.2	+	2	620	c.347G>T	c.(346-348)gGa>gTa	p.G116V	MYLK2_ENST00000375985.4_Missense_Mutation_p.G116V			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	116					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.G116V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCTGAGCAGGGAGCCTCAGGC	0.692000													4	32					1.23904e-05	1.61669e-05	0.184627	1	0
SLC22A1	6580	broad.mit.edu	37	6	160543347	160543347	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:160543347A>G	ENST00000366963.4	+	1	527	c.380A>G	c.(379-381)tAt>tGt	p.Y127C	SLC22A1_ENST00000324965.4_Missense_Mutation_p.Y127C|SLC22A1_ENST00000457470.2_Missense_Mutation_p.Y127C	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	127						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	p.Y127C(1)	SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GGCTGGGTGTATGACACGCCC	0.567000													22	35					0	0	0.592651	0	0
ORM1	5004	broad.mit.edu	37	9	117086345	117086345	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:117086345A>T	ENST00000259396.8	+	3	383	c.305A>T	c.(304-306)gAa>gTa	p.E102V	ORM1_ENST00000538816.1_3'UTR|ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	102					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding	p.E102V(1)		endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	GTCCAGCGGGAAAATGGGACC	0.542000													13	41					0	0	0.435327	0	0
SLC25A12	8604	broad.mit.edu	37	2	172712358	172712358	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:172712358C>G	ENST00000422440.2	-	4	348	c.311G>C	c.(310-312)gGa>gCa	p.G104A	SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Intron	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	104	EF-hand 2.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	p.G104A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGTCACCTCTCCATTTCCACT	0.358000													18	156					0	0	0.575678	0	0
FAT4	79633	broad.mit.edu	37	4	126242334	126242334	+	Silent	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:126242334T>C	ENST00000394329.3	+	1	4781	c.4768T>C	c.(4768-4770)Ttg>Ctg	p.L1590L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1590	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L1590L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGCTTCAGCGTTGGTGCCTTC	0.453000													7	97					0	0	0.278610	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951280	235951280	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:235951280A>T	ENST00000409212.1	+	4	2374	c.1867A>T	c.(1867-1869)Agg>Tgg	p.R623W	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R623W|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R623W			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	623					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.R623W(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTCCGGGCAAAGGAGGTTTCT	0.567000													5	29					0	0	0.217242	0	0
RIMS4	140730	broad.mit.edu	37	20	43386379	43386379	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:43386379C>A	ENST00000372851.3	-	4	449	c.383G>T	c.(382-384)gGt>gTt	p.G128V	RIMS4_ENST00000541604.2_Missense_Mutation_p.G129V	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	128	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.G128V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CTCCAACTGACCGTTCCGCTC	0.587000													16	69					3.45872e-05	4.45193e-05	0.500413	1	0
DMXL1	1657	broad.mit.edu	37	5	118469421	118469421	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:118469421C>T	ENST00000311085.8	+	12	1882	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L	DMXL1_ENST00000539542.1_Missense_Mutation_p.S601L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	601								p.S601L(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGATGATATCAAAACATGCT	0.368000													5	74					0	0	0.217242	0	0
OR2T1	26696	broad.mit.edu	37	1	248569491	248569491	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:248569491G>T	ENST00000366474.1	+	1	196	c.196G>T	c.(196-198)Ggg>Tgg	p.G66W		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G66W(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACTTTCATGGGGCTGTTCAA	0.413000													9	123					7.48243e-07	1.0329e-06	0.335167	1	0
RBBP8	5932	broad.mit.edu	37	18	20573261	20573261	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr18:20573261C>G	ENST00000399722.2	+	11	1822	c.1471C>G	c.(1471-1473)Ctg>Gtg	p.L491V	RBBP8_ENST00000399725.2_Missense_Mutation_p.L491V|RBBP8_ENST00000360790.5_Missense_Mutation_p.L491V|RBBP8_ENST00000327155.5_Missense_Mutation_p.L491V	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	491	CTBP-binding motif.				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.L491V(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GGATAAACCTCTGGATCTGTC	0.398000								Homologous recombination					11	58					0	0	0.361761	0	0
EFCAB5	374786	broad.mit.edu	37	17	28407144	28407144	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:28407144G>A	ENST00000394835.3	+	16	3274	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E904K	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1028							calcium ion binding	p.E1028K(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTCTTAGAAGAAAACCTACT	0.428000													17	47					0	0	0.520397	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374304	95374304	+	RNA	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:95374304C>A	ENST00000494840.1	-	0	1557					NR_077228.1																						AATGTCAGTTCGCTTAATTAT	0.448000													6	41					0.00116845	0.0013614	0.217242	1	0
TMEM88	92162	broad.mit.edu	37	17	7758930	7758930	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:7758930C>A	ENST00000301599.6	+	2	388	c.378C>A	c.(376-378)taC>taA	p.Y126*	TMEM88_ENST00000574668.1_Intron	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	126						integral to membrane		p.Y126*(1)		lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				TCGTGCCCTACAGCCGAGCCC	0.687000													11	23					3.07112e-06	4.1056e-06	0.387290	1	0
POC1A	25886	broad.mit.edu	37	3	52185109	52185109	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:52185109G>A	ENST00000394970.2	-	2	343	c.26C>T	c.(25-27)cCc>cTc	p.P9L	POC1A_ENST00000296484.2_Missense_Mutation_p.P9L|POC1A_ENST00000474012.1_5'UTR	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	9						centriole|microtubule basal body		p.P9L(1)		endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TTCCAGCGAGGGGTCCTCCTG	0.567000													7	61					0	0	0.278610	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44801467	44801467	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:44801467G>T	ENST00000309315.4	+	11	1682	c.1559G>T	c.(1558-1560)cGc>cTc	p.R520L	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R520L|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R494L|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R462L|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R488L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	520					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.R520L(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGCCAGGCCGCAACACCATC	0.677000													5	30					0.00198382	0.00226977	0.248553	1	0
TDP1	55775	broad.mit.edu	37	14	90437534	90437534	+	Silent	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:90437534G>T	ENST00000335725.4	+	6	925	c.675G>T	c.(673-675)ctG>ctT	p.L225L	TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393454.2_Silent_p.L225L|TDP1_ENST00000393452.3_Silent_p.L225L|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000555880.1_Silent_p.L225L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	225					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	p.L225L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AGCCAATCCTGCTTGTGCATG	0.507000								Repair of DNA-protein crosslinks					7	48					2.7689e-08	3.98094e-08	0.248553	1	0
RNH1	6050	broad.mit.edu	37	11	499889	499889	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:499889G>A	ENST00000534797.1	-	3	1790	c.383C>T	c.(382-384)gCg>gTg	p.A128V	RNH1_ENST00000354420.2_Missense_Mutation_p.A128V|RNH1_ENST00000438658.2_Missense_Mutation_p.A128V|RNH1_ENST00000356187.5_Missense_Mutation_p.A128V|RNH1_ENST00000533410.1_Missense_Mutation_p.A128V|RNH1_ENST00000397615.2_Missense_Mutation_p.A128V|RNH1_ENST00000397604.3_Missense_Mutation_p.A128V|RNH1_ENST00000397614.1_Missense_Mutation_p.A128V			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	128					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	p.A128V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAGGCCCGCATCCCCCAA	0.682000													3	32					0	0	0.150653	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531034	140531034	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:140531034A>T	ENST00000231136.1	+	1	1196	c.1196A>T	c.(1195-1197)tAc>tTc	p.Y399F	PCDHB6_ENST00000543635.1_Missense_Mutation_p.Y263F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		399	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.Y399F(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAATTTCTACACCCTGGTA	0.473000													5	72					0	0	0.184627	0	0
ELOVL4	6785	broad.mit.edu	37	6	80634726	80634726	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:80634726C>A	ENST00000369816.4	-	3	612	c.312G>T	c.(310-312)gcG>gcT	p.A104A		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	104					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	p.A104A(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AGCTATATCCCGCATTATATG	0.279000													14	42					1.5739e-10	2.37958e-10	0.500413	1	0
COL22A1	169044	broad.mit.edu	37	8	139890019	139890019	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:139890019C>A	ENST00000303045.6	-	3	1078	c.632G>T	c.(631-633)gGc>gTc	p.G211V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G211V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	211	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G211V(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCGCAGCTTGCCCCGGATCTT	0.667000										HNSCC(7;0.00092)			4	40					0.184627	0.187082	0.184627	1	0
DGKQ	1609	broad.mit.edu	37	4	957013	957013	+	Silent	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:957013G>C	ENST00000273814.3	-	16	1873	c.1800C>G	c.(1798-1800)ctC>ctG	p.L600L	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	600	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	p.L600L(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTCGGCCCTTGAGGCCTCCAC	0.627000													11	28					0	0	0.387290	0	0
MGAM	8972	broad.mit.edu	37	7	141776013	141776013	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:141776013C>A	ENST00000475668.2	+	46	5340	c.5286C>A	c.(5284-5286)gcC>gcA	p.A1762A	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1762	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACTGTGGCCAAGAAAGTAT	0.418000													10	68					0.0581538	0.0615461	0.335167	1	0
PLAG1	5324	broad.mit.edu	37	8	57079013	57079013	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:57079013G>T	ENST00000316981.3	-	5	1771	c.1292C>A	c.(1291-1293)cCc>cAc	p.P431H	PLAG1_ENST00000429357.2_Missense_Mutation_p.P431H|PLAG1_ENST00000423799.2_Missense_Mutation_p.P349H	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	431	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P431L(2)|p.P431H(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AGGATTATAGGGAGGACCATT	0.453000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								6	69					0.00116845	0.0013614	0.217242	1	0
EPS15L1	58513	broad.mit.edu	37	19	16548592	16548592	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:16548592G>A	ENST00000597937.1	-	5	302	c.298C>T	c.(298-300)Ccg>Tcg	p.P100S	EPS15L1_ENST00000455140.2_Missense_Mutation_p.P100S|EPS15L1_ENST00000594975.1_Missense_Mutation_p.P100S|EPS15L1_ENST00000248070.6_Missense_Mutation_p.P100S|EPS15L1_ENST00000535753.2_Missense_Mutation_p.P100S	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	100	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	p.P100S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AATTTAGGCGGTGGCATGCTC	0.438000													4	28					0	0	0.184627	0	0
SDK2	54549	broad.mit.edu	37	17	71391419	71391419	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:71391419A>G	ENST00000392650.3	-	25	3467	c.3467T>C	c.(3466-3468)gTg>gCg	p.V1156A	SDK2_ENST00000388726.3_Missense_Mutation_p.V1156A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1156	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.V1156A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCCCGCTCCACACGGTCCTG	0.617000													8	24					0	0	0.278610	0	0
GEMIN5	25929	broad.mit.edu	37	5	154271093	154271093	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:154271093C>T	ENST00000285873.7	-	26	4045	c.3970G>A	c.(3970-3972)Gaa>Aaa	p.E1324K		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1324					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	p.E1324K(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCGTTTCTTCAGTGCTGGCA	0.502000													7	91					0	0	0.248553	0	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906333	120906333	+	RNA	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:120906333G>T	ENST00000430394.1	+	0	306					NR_027337.1																						AGATCCAGACGGCCGTGCGCC	0.637000													11	54					0.00010058	0.000124419	0.411799	1	0
ANKS1B	56899	broad.mit.edu	37	12	99837486	99837486	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:99837486C>G	ENST00000547776.2	-	11	1539	c.1540G>C	c.(1540-1542)Gcc>Ccc	p.A514P	ANKS1B_ENST00000329257.7_Missense_Mutation_p.A514P|ANKS1B_ENST00000547010.1_Missense_Mutation_p.A94P	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	514						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.A514P(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTTGAGGGCAGTATCAGGG	0.428000													9	39					0	0	0.335167	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238049	132238049	+	Silent	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:132238049G>A	ENST00000321253.6	+	4	890	c.783G>A	c.(781-783)ccG>ccA	p.P261P		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	261					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.P261P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCTAGTGCCGTACCCCCGCA	0.587000													5	9					0	0	0.184627	0	0
OR5T3	390154	broad.mit.edu	37	11	56020314	56020314	+	Silent	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:56020314T>A	ENST00000303059.3	+	1	639	c.639T>A	c.(637-639)ccT>ccA	p.P213P		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P213P(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATATGCCTCCTCTCCTTGCTA	0.398000													25	175					0	0	0.717897	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85459121	85459121	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:85459121C>T	ENST00000393217.2	+	9	2534	c.2473C>T	c.(2473-2475)Ctt>Ttt	p.L825F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	825								p.L825F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GTTTCTATCCCTTCGACGCTG	0.398000													7	49					0	0	0.248553	0	0
SATB2	23314	broad.mit.edu	37	2	200213787	200213787	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:200213787C>A	ENST00000443023.1	-	6	2098	c.633G>T	c.(631-633)caG>caT	p.Q211H	SATB2_ENST00000260926.5_Missense_Mutation_p.Q270H|SATB2_ENST00000417098.1_Missense_Mutation_p.Q270H|SATB2_ENST00000457245.1_Missense_Mutation_p.Q270H|SATB2_ENST00000428695.1_Missense_Mutation_p.Q152H			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	270						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.Q270H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTGAGGAGACTGTTCGTTGG	0.498000													8	47					0.0477658	0.0506929	0.307466	1	0
PPFIA4	8497	broad.mit.edu	37	1	203024683	203024683	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:203024683C>A	ENST00000367240.2	+	15	2417	c.1890C>A	c.(1888-1890)acC>acA	p.T630T	PPFIA4_ENST00000272198.6_Silent_p.T145T|PPFIA4_ENST00000599966.1_Silent_p.T145T|PPFIA4_ENST00000295706.4_Silent_p.T145T|PPFIA4_ENST00000414050.2_Silent_p.T358T|PPFIA4_ENST00000447715.2_Silent_p.T629T			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	145					cell communication	cell surface|cytoplasm	protein binding	p.T776T(1)|p.T145T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCATCCCCACCTCTCTGACGG	0.657000													5	24					0.0215528	0.0231966	0.217242	1	0
PTPRN2	5799	broad.mit.edu	37	7	157926523	157926523	+	Missense_Mutation	SNP	C	C	G	rs151334443		TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:157926523C>G	ENST00000389413.3	-	9	1505	c.1402G>C	c.(1402-1404)Gct>Cct	p.A468P	PTPRN2_ENST00000389418.4_Missense_Mutation_p.A468P|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A430P|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A451P|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A491P	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	468						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A468P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCAAACGCAGCGGCCCCGGGC	0.627000													9	61					0	0	0.361761	0	0
CXorf48	54967	broad.mit.edu	37	X	134292127	134292127	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:134292127T>A	ENST00000344129.2	-	4	760	c.534A>T	c.(532-534)gaA>gaT	p.E178D	CXorf48_ENST00000276241.6_Missense_Mutation_p.E178D	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	178								p.E178D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					AAATTACCTCTTCCGTATGAA	0.423000													3	21					0	0	0.150653	0	0
MED23	9439	broad.mit.edu	37	6	131927661	131927661	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:131927661T>G	ENST00000403834.3	-	13	1516	c.1343A>C	c.(1342-1344)aAg>aCg	p.K448T	MED23_ENST00000539158.1_Missense_Mutation_p.K442T|MED23_ENST00000368068.3_Missense_Mutation_p.K442T|MED23_ENST00000545957.1_Missense_Mutation_p.K83T|MED23_ENST00000368053.4_Missense_Mutation_p.K448T|MED23_ENST00000540546.1_Missense_Mutation_p.K448T|MED23_ENST00000368058.1_Missense_Mutation_p.K448T|MED23_ENST00000354577.4_Missense_Mutation_p.K448T|MED23_ENST00000368060.3_Missense_Mutation_p.K442T			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	442					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.K442T(1)|p.K448T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATCTGTAGCTTGGAGTTGTC	0.363000													5	39					0	0	0.184627	0	0
GTPBP10	85865	broad.mit.edu	37	7	89983860	89983860	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:89983860A>T	ENST00000222511.6	+	3	382	c.316A>T	c.(316-318)Ata>Tta	p.I106L	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	106					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	p.I106L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TGGTAAAATTATAGGTGAGTG	0.338000													8	50					0	0	0.307466	0	0
TULP2	7288	broad.mit.edu	37	19	49399713	49399713	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:49399713C>T	ENST00000221399.3	-	4	329	c.185G>A	c.(184-186)cGg>cAg	p.R62Q		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	62					visual perception	cytoplasm|extracellular region		p.R62Q(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GCGCTCCTCCCGCAGACAAGA	0.637000													7	66					0	0	0.307466	0	0
EPHA6	285220	broad.mit.edu	37	3	96706660	96706660	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:96706660G>T	ENST00000389672.5	+	3	975	c.937G>T	c.(937-939)Gat>Tat	p.D313Y	EPHA6_ENST00000470610.2_Missense_Mutation_p.D313Y|EPHA6_ENST00000542517.1_Missense_Mutation_p.D219Y	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	218						integral to plasma membrane	ATP binding|ephrin receptor activity	p.D219Y(2)|p.D219H(1)|p.D313Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATGTTTCCTGATACCATTCC	0.478000													29	137					5.60225e-13	8.78377e-13	0.740014	1	0
PAPPA2	60676	broad.mit.edu	37	1	176564456	176564456	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:176564456C>A	ENST00000367662.3	+	3	2880	c.1716C>A	c.(1714-1716)gtC>gtA	p.V572V	PAPPA2_ENST00000367661.3_Silent_p.V572V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	572	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.V572V(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCACCAGGTCCACAATTCCA	0.572000													13	40					1.61879e-10	2.43778e-10	0.411799	1	0
OR52N5	390075	broad.mit.edu	37	11	5799626	5799626	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:5799626A>T	ENST00000317093.2	-	1	271	c.239T>A	c.(238-240)cTc>cAc	p.L80H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L80H(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GCAGGTAAGGAGGTCAATGAG	0.433000													9	64					0	0	0.307466	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605902	1605902	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:1605902G>T	ENST00000382171.2	-	1	611	c.578C>A	c.(577-579)tCc>tAc	p.S193Y	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	193	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.S193Y(2)		endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCCCCCTTGGATCCCCCACA	0.672000													5	22					3.59834e-05	4.58517e-05	0.217242	1	0
NFKBID	84807	broad.mit.edu	37	19	36387822	36387822	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:36387822C>G	ENST00000396901.1	-	5	718	c.145G>C	c.(145-147)Ggg>Cgg	p.G49R	NFKBID_ENST00000606253.1_Missense_Mutation_p.G49R|NFKBID_ENST00000352614.2_Missense_Mutation_p.G201R	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	49					inflammatory response	nucleus		p.G49R(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CACGTGTCCCCCTCCTCATCC	0.632000													39	44					0	0	0.847076	0	0
PRTG	283659	broad.mit.edu	37	15	55970202	55970202	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:55970202T>C	ENST00000389286.4	-	8	1221	c.1174A>G	c.(1174-1176)Att>Gtt	p.I392V		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	392	Ig-like 4.				multicellular organismal development	integral to membrane		p.I392V(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CACTGATAAATAGCATCATCT	0.338000													7	23					0	0	0.278610	0	0
SERGEF	26297	broad.mit.edu	37	11	18028280	18028280	+	Silent	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:18028280G>A	ENST00000265965.5	-	3	361	c.210C>T	c.(208-210)ctC>ctT	p.L70L	SERGEF_ENST00000532265.1_5'UTR|SERGEF_ENST00000528200.1_Silent_p.L70L|RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000532212.1_5'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	70					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	p.L70L(1)		autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CACAAACAAAGAGGTCTCCTC	0.433000													17	112					0	0	0.575678	0	0
UBR5	51366	broad.mit.edu	37	8	103316347	103316347	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:103316347C>T	ENST00000520539.1	-	22	3484	c.2878G>A	c.(2878-2880)Gag>Aag	p.E960K	UBR5_ENST00000220959.4_Missense_Mutation_p.E960K|UBR5_ENST00000521922.1_Missense_Mutation_p.E954K	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	960					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.E960K(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCAATGGCCTCAACAGCAGAA	0.373000													19	58					0	0	0.575678	0	0
NLRP4	147945	broad.mit.edu	37	19	56369522	56369522	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:56369522C>A	ENST00000301295.6	+	3	1185	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	NLRP4_ENST00000587891.1_Silent_p.R180R|NLRP4_ENST00000346986.5_Silent_p.R255R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	255	NACHT.						ATP binding	p.R255R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GATGGAGAAACGGCCGGTGCA	0.577000													8	39					3.86212e-05	4.87241e-05	0.361761	1	0
FER1L6	654463	broad.mit.edu	37	8	125033871	125033871	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:125033871C>G	ENST00000522917.1	+	17	2301	c.2095C>G	c.(2095-2097)Caa>Gaa	p.Q699E	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.Q699E	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	699						integral to membrane		p.Q699E(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCACGAAGCCCAAAACTTTGT	0.418000													13	86					0	0	0.457914	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030169	10030169	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr20:10030169G>T	ENST00000378380.3	+	6	1281	c.952G>T	c.(952-954)Gcc>Tcc	p.A318S	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.A318S|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.A318S(1)									CAGGCCAGGAGCCAAAAATCC	0.527000													8	54					2.17888e-05	2.81408e-05	0.335167	1	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651151	1651151	+	Silent	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:1651151C>T	ENST00000399676.2	+	1	119	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	27						keratin filament		p.G27G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gtggctccggctgtggaggct	0.711000													5	79					0	0	0.335167	0	0
MS4A3	932	broad.mit.edu	37	11	59828639	59828639	+	Silent	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:59828639C>T	ENST00000278865.3	+	2	79	c.6C>T	c.(4-6)gcC>gcT	p.A2A	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000358152.2_Silent_p.A2A|MS4A3_ENST00000534744.1_Silent_p.A2A	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	2						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.A2A(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCCCAATGGCCTCCCACGAAG	0.488000													5	42					0	0	0.184627	0	0
FBXL5	26234	broad.mit.edu	37	4	15627285	15627285	+	Missense_Mutation	SNP	C	C	A	rs149921734		TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:15627285C>A	ENST00000341285.3	-	9	1564	c.1440G>T	c.(1438-1440)tgG>tgT	p.W480C	FBXL5_ENST00000382358.4_Missense_Mutation_p.W354C|FBXL5_ENST00000412094.2_Missense_Mutation_p.W463C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	480					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	p.W480C(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CATCTAACATCCACACATAAG	0.378000													17	57					6.49762e-13	1.01459e-12	0.539581	1	0
MAGEC3	139081	broad.mit.edu	37	X	140953365	140953365	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:140953365C>A	ENST00000298296.1	+	2	232	c.232C>A	c.(232-234)Ctt>Att	p.L78I		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	78								p.L78I(1)		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)					AATGGATAGTCTTGTCCTCTG	0.507000													7	48					5.4927e-09	7.95711e-09	0.307466	1	0
SESTD1	91404	broad.mit.edu	37	2	180014089	180014089	+	Silent	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:180014089T>C	ENST00000428443.3	-	7	832	c.516A>G	c.(514-516)tcA>tcG	p.S172S		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	172					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	p.S172S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATCTAATAATGATGTAGATT	0.308000													6	31					0	0	0.217242	0	0
ZNF709	163051	broad.mit.edu	37	19	12575152	12575152	+	Silent	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:12575152C>A	ENST00000397732.3	-	4	1755	c.1584G>T	c.(1582-1584)ggG>ggT	p.G528G	ZNF709_ENST00000428311.1_Silent_p.G528G|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G528G(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						AGGGTTTCTCCCCAGTGTGAG	0.423000													17	102					2.35188e-11	3.56999e-11	0.539581	1	0
KIDINS220	57498	broad.mit.edu	37	2	8890429	8890429	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:8890429C>T	ENST00000256707.3	-	24	3408	c.3227G>A	c.(3226-3228)gGa>gAa	p.G1076E	KIDINS220_ENST00000473731.1_Missense_Mutation_p.G1076E|KIDINS220_ENST00000418530.1_Missense_Mutation_p.G1034E|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G1076E	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1076					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.G1076E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTACGCCAGTCCTCCAATACT	0.542000													9	38					0	0	0.307466	0	0
TMEM74	157753	broad.mit.edu	37	8	109797177	109797177	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:109797177T>C	ENST00000297459.3	-	2	329	c.151A>G	c.(151-153)Aga>Gga	p.R51G	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	51					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.R51G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCGGTTGCTCTTGGGGTGGAT	0.547000													6	72					0	0	0.248553	0	0
ABCD4	5826	broad.mit.edu	37	14	74759024	74759024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:74759024C>A	ENST00000356924.4	-	11	1227	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Nonsense_Mutation_p.E258*|ABCD4_ENST00000557554.1_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	362						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E362*(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CCCAGGATCTCGCAGTCCTGT	0.582000													7	66					0.010729	0.0118486	0.387290	1	0
URB2	9816	broad.mit.edu	37	1	229773858	229773858	+	Silent	SNP	A	A	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:229773858A>C	ENST00000258243.2	+	4	3634	c.3498A>C	c.(3496-3498)ccA>ccC	p.P1166P		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1166						nucleolus		p.P1166P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGGAGTTGCCAGCTCTCGCGG	0.527000													21	42					0	0	0.592651	0	0
ENTPD3	956	broad.mit.edu	37	3	40468909	40468909	+	Silent	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:40468909G>A	ENST00000301825.3	+	11	1618	c.1500G>A	c.(1498-1500)ctG>ctA	p.L500L	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.L500L|ENTPD3-AS1_ENST00000425156.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	500						integral to membrane	ATP binding|hydrolase activity	p.L500L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CAGCCTTGCTGTGTCTGGCAT	0.532000													6	51					0	0	0.217242	0	0
SLC12A6	9990	broad.mit.edu	37	15	34528982	34528982	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:34528982C>T	ENST00000354181.3	-	23	3461	c.2969G>A	c.(2968-2970)cGc>cAc	p.R990H	SLC12A6_ENST00000558589.1_Missense_Mutation_p.R981H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R802H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R802H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R990H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R939H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R990H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R931H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R931H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R975H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	990					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	p.R939H(1)|p.R981H(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CATCAAAGTGCGCTCGTAAGT	0.443000													4	70					0	0	0.217242	0	0
FRMD8	83786	broad.mit.edu	37	11	65161533	65161533	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:65161533G>A	ENST00000317568.5	+	5	540	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	FRMD8_ENST00000355991.5_Missense_Mutation_p.R70Q|FRMD8_ENST00000416776.2_Missense_Mutation_p.R92Q	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	126	FERM.					cytoskeleton	binding	p.R126Q(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CTGCAGTTCCGAAGGAACGTG	0.672000													4	21					0	0	0.150653	0	0
OR2T33	391195	broad.mit.edu	37	1	248436583	248436583	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:248436583C>A	ENST00000318021.2	-	1	555	c.534G>T	c.(532-534)gaG>gaT	p.E178D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E178D(1)		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)			GCACGGGGGTCTCGCAGAAGA	0.552000													4	17					0.184627	0.187082	0.184627	1	0
SSPO	23145	broad.mit.edu	37	7	149525007	149525007	+	RNA	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr7:149525007G>T	ENST00000378016.2	+	0	14918							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)			GGGCACTTCCGCAGCCAGGCA	0.657000													3	30					0.004672	0.00523539	0.115264	1	0
RBM15B	29890	broad.mit.edu	37	3	51429993	51429993	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:51429993A>T	ENST00000323686.4	+	1	1263	c.1163A>T	c.(1162-1164)gAc>gTc	p.D388V		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	388	RRM 2.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.D388V(1)		endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGAACCTGGACATGGCCCAT	0.587000													8	23					0	0	0.278610	0	0
TP53	7157	broad.mit.edu	37	17	7578393	7578393	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr17:7578393A>T	ENST00000420246.2	-	5	669	c.537T>A	c.(535-537)caT>caA	p.H179Q	TP53_ENST00000269305.4_Missense_Mutation_p.H179Q|TP53_ENST00000445888.2_Missense_Mutation_p.H179Q|TP53_ENST00000359597.4_Missense_Mutation_p.H179Q|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179Q|TP53_ENST00000413465.2_Missense_Mutation_p.H179Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179Q(23)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86Q(2)|p.H47Q(2)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E171fs*61(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)		AGCAGCGCTCATGGTGGGGGC	0.642000		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)			10	31					0	0	0.387290	0	0
PTPRK	5796	broad.mit.edu	37	6	128294223	128294223	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:128294223C>G	ENST00000368227.3	-	30	4630	c.4264G>C	c.(4264-4266)Gtt>Ctt	p.V1422L	PTPRK_ENST00000368210.3_Missense_Mutation_p.V1423L|PTPRK_ENST00000368226.4_Missense_Mutation_p.V1405L|PTPRK_ENST00000368213.5_Missense_Mutation_p.V1411L|PTPRK_ENST00000368215.3_Missense_Mutation_p.V1404L|PTPRK_ENST00000532331.1_Missense_Mutation_p.V1427L|PTPRK_ENST00000368207.3_Missense_Mutation_p.V1437L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1404	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.V1405L(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCATGGAAAACATCGACAACA	0.453000													32	75					0	0	0.812448	0	0
EPPK1	83481	broad.mit.edu	37	8	144943470	144943470	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:144943470C>A	ENST00000525985.1	-	2	4023	c.3952G>T	c.(3952-3954)Ggg>Tgg	p.G1318W				P58107	EPIPL_HUMAN	epiplakin 1	1318						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.G1318W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGGCCTGCCCGAGCTGCTCA	0.647000													12	90					0.00136819	0.00158927	0.411799	1	0
MEF2A	4205	broad.mit.edu	37	15	100250868	100250868	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr15:100250868G>T	ENST00000354410.5	+	10	1650	c.1021G>T	c.(1021-1023)Gcc>Tcc	p.A341S	MEF2A_ENST00000558812.1_Missense_Mutation_p.A279S|MEF2A_ENST00000557785.1_Missense_Mutation_p.A339S|MEF2A_ENST00000338042.6_Missense_Mutation_p.A348S|MEF2A_ENST00000453228.2_Missense_Mutation_p.A339S|MEF2A_ENST00000557942.1_Missense_Mutation_p.A347S|MEF2A_ENST00000449277.2_Missense_Mutation_p.A271S	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	349					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	p.A349S(1)|p.A339S(1)|p.A341S(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGACCTGTCAGCCCTTCAAGG	0.527000													4	20					0.150653	0.155553	0.150653	1	0
RBBP6	5930	broad.mit.edu	37	16	24583167	24583167	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:24583167C>T	ENST00000319715.4	+	18	5212	c.4780C>T	c.(4780-4782)Cca>Tca	p.P1594S	RBBP6_ENST00000348022.2_Missense_Mutation_p.P1560S|RBBP6_ENST00000381039.3_Missense_Mutation_p.P754S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1594					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P1594S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACTTAACCCACCAGAGACACA	0.378000													4	58					0	0	0.150653	0	0
SSX3	10214	broad.mit.edu	37	X	48209006	48209006	+	Silent	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chrX:48209006G>A	ENST00000376893.3	-	7	576	c.483C>T	c.(481-483)taC>taT	p.Y161Y	SSX3_ENST00000298396.2_Intron|SSX3_ENST00000376895.1_Intron			Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.Y161Y(1)		endometrium(3)|large_intestine(1)|lung(9)	13						cgaacctgcagtatctctgaa	0.413000													3	31					0	0	0.115264	0	0
RREB1	6239	broad.mit.edu	37	6	7230298	7230298	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr6:7230298G>C	ENST00000379938.2	+	10	2503	c.1966G>C	c.(1966-1968)Ggg>Cgg	p.G656R	RREB1_ENST00000334984.6_Missense_Mutation_p.G656R|RREB1_ENST00000379933.3_Missense_Mutation_p.G656R|RREB1_ENST00000349384.6_Missense_Mutation_p.G656R	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	656					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.G656R(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGCCTTCTCGGGGGTCTTGCG	0.647000													4	29					0	0	0.278610	0	0
ALMS1	7840	broad.mit.edu	37	2	73676241	73676241	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:73676241C>G	ENST00000264448.6	+	8	2695	c.2584C>G	c.(2584-2586)Ctt>Gtt	p.L862V	ALMS1_ENST00000377715.1_Missense_Mutation_p.L862V|ALMS1_ENST00000409009.1_Missense_Mutation_p.L820V	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	862	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.L862V(1)		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						GTCCTCTTCACTTGGAGAAAA	0.483000													6	40					0	0	0.278610	0	0
ZNF256	10172	broad.mit.edu	37	19	58453004	58453004	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:58453004C>A	ENST00000282308.3	-	3	1368	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	391					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S391I(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GAGGTGACAGCTCTGGCTAAA	0.408000													14	40					1.36491e-13	2.17586e-13	0.435327	1	0
KLHL3	26249	broad.mit.edu	37	5	137013243	137013243	+	Silent	SNP	T	T	G	rs143713380	byFrequency	TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:137013243T>G	ENST00000508657.1	-	6	1245	c.531A>C	c.(529-531)tcA>tcC	p.S177S	KLHL3_ENST00000541417.1_Silent_p.S89S|KLHL3_ENST00000309755.4_Silent_p.S209S|KLHL3_ENST00000506491.1_Silent_p.S127S|KLHL3_ENST00000394937.3_Silent_p.S209S	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	209						cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.S209S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CCTTCTCTTCTGAAGAAACGG	0.488000													5	69					0	0	0.217242	0	0
PCDH12	51294	broad.mit.edu	37	5	141336110	141336110	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr5:141336110C>T	ENST00000231484.3	-	1	2517	c.1307G>A	c.(1306-1308)gGa>gAa	p.G436E		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	436	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding	p.G436E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGGAGTCCTTGGTCTTG	0.468000													15	78					0	0	0.557998	0	0
CASP5	838	broad.mit.edu	37	11	104877974	104877974	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:104877974T>A	ENST00000393141.2	-	3	339	c.308A>T	c.(307-309)cAc>cTc	p.H103L	CASP5_ENST00000393139.2_Missense_Mutation_p.H57L|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000260315.3_Missense_Mutation_p.H90L|CASP5_ENST00000444749.2_Missense_Mutation_p.H32L|CASP5_ENST00000526056.1_Missense_Mutation_p.H103L	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	90	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.H103L(1)|p.H74L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CAGAACATCGTGTTTTGCCAA	0.353000													12	70					0	0	0.435327	0	0
MRC1	4360	broad.mit.edu	37	10	17949553	17949553	+	Missense_Mutation	SNP	C	C	T	rs140695246	byFrequency	TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:17949553C>T	ENST00000331429.2	+	28	4020	c.3917C>T	c.(3916-3918)aCg>aTg	p.T1306M															p.T1306M(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGACCAGGGACGTGGCTGTGG	0.378000													12	24					0	0	0.520397	0	0
EML1	2009	broad.mit.edu	37	14	100402407	100402407	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:100402407T>A	ENST00000262233.6	+	18	2090	c.1951T>A	c.(1951-1953)Tat>Aat	p.Y651N	EML1_ENST00000334192.4_Missense_Mutation_p.Y670N|EML1_ENST00000327921.9_Missense_Mutation_p.Y639N	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	651						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.Y670N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAACTGCATCTATATATATGG	0.428000													4	52					0	0	0.184627	0	0
MMP16	4325	broad.mit.edu	37	8	89128839	89128839	+	Missense_Mutation	SNP	C	C	T	rs146269135		TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:89128839C>T	ENST00000286614.6	-	6	1261	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	327					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R327Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GGTTGGAGGCCGAGGAGGTTT	0.527000													7	98					0	0	0.307466	0	0
ZNF488	118738	broad.mit.edu	37	10	48371205	48371205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:48371205C>T	ENST00000395702.2	+	2	900	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	ZNF488_ENST00000586537.1_Nonsense_Mutation_p.Q118*|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q225*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGCATTGCCACAGAATGCTCC	0.547000													29	47					0	0	0.740014	0	0
LILRB2	10288	broad.mit.edu	37	19	54780306	54780306	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr19:54780306C>G	ENST00000391748.1	-	11	1612	c.1485G>C	c.(1483-1485)caG>caC	p.Q495H	LILRB2_ENST00000314446.5_Missense_Mutation_p.Q495H|LILRB2_ENST00000434421.1_Missense_Mutation_p.Q380H|LILRB2_ENST00000391749.4_Missense_Mutation_p.Q496H|LILRB2_ENST00000391746.1_Intron	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	496					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.Q496H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCCTTTCTCTGGGCTGGGG	0.587000													5	14					0	0	0.184627	0	0
ABCC9	10060	broad.mit.edu	37	12	22068699	22068699	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr12:22068699T>C	ENST00000261200.4	-	5	718	c.719A>G	c.(718-720)aAa>aGa	p.K240R	ABCC9_ENST00000261201.4_Missense_Mutation_p.K240R|ABCC9_ENST00000345162.2_Missense_Mutation_p.K240R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	240					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.K240R(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATAGGCTTTTTGTGAGCAGA	0.383000													13	66					0	0	0.411799	0	0
PXDNL	137902	broad.mit.edu	37	8	52320844	52320844	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:52320844G>A	ENST00000356297.4	-	17	3440	c.3340C>T	c.(3340-3342)Ccc>Tcc	p.P1114S	PXDNL_ENST00000543296.1_Missense_Mutation_p.P1114S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1114					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.P1114S(1)|p.P313S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGGTAGGAGGGTGCCCGCCAT	0.567000													7	56					0	0	0.248553	0	0
EML5	161436	broad.mit.edu	37	14	89154817	89154817	+	Splice_Site	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:89154817C>A	ENST00000554922.1	-	18	2788	c.2539_splice	c.e18-1	p.G847_splice	EML5_ENST00000380664.5_Splice_Site_p.G847_splice|EML5_ENST00000352093.5_Intron	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	847						cytoplasm|microtubule		p.G847V(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAATCCTCCCCCTAGTTCACA	0.358000													15	123					2.62699e-14	4.25907e-14	0.479597	1	0
HTR7	3363	broad.mit.edu	37	10	92508872	92508872	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr10:92508872C>A	ENST00000371721.3	-	2	1261	c.1019G>T	c.(1018-1020)tGg>tTg	p.W340L	HTR7_ENST00000371719.2_Missense_Mutation_p.W340L|HTR7_ENST00000336152.3_Missense_Mutation_p.W340L|HTR7_ENST00000277874.6_Missense_Mutation_p.W340L			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	340					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	p.W340L(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AAATGGCAGCCAGCACACGGT	0.542000													12	31					2.27111e-07	3.19296e-07	0.411799	1	0
MRPL50	54534	broad.mit.edu	37	9	104152941	104152941	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr9:104152941C>A	ENST00000374865.4	-	2	305	c.284G>T	c.(283-285)cGt>cTt	p.R95L	MRPL50_ENST00000539624.1_Missense_Mutation_p.R95L	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	95						mitochondrion|ribosome		p.R95L(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GAACTTTAGACGACTATCTTC	0.433000													19	28					3.62473e-10	5.39462e-10	0.608945	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23815782	23815782	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:23815782T>A	ENST00000264867.2	-	8	1443	c.1324A>T	c.(1324-1326)Aag>Tag	p.K442*	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	442					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	p.K442*(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GAGACCTGCTTGCTTGCCTCC	0.483000													8	40					0	0	0.278610	0	0
EPHA10	284656	broad.mit.edu	37	1	38227634	38227635	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:38227634_38227635insT	ENST00000373048.4	-	3	291_292	c.292_293insA	c.(292-294)gcafs	p.A98fs	EPHA10_ENST00000427468.2_Frame_Shift_Ins_p.A98fs|EPHA10_ENST00000319637.6_Frame_Shift_Ins_p.A98fs	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	98						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATGCGCTGCCCGCGGCCACGG	0.609													7	142	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													7	46	---	---	---	---					
PTPRC	5788	broad.mit.edu	37	1	198687238	198687238	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr1:198687238delG	ENST00000367376.2	+	14	1631	c.1460delG	c.(1459-1461)tgfs	p.W487fs	PTPRC_ENST00000348564.6_Frame_Shift_Del_p.W328fs|PTPRC_ENST00000442510.2_Frame_Shift_Del_p.W489fs|PTPRC_ENST00000352140.3_Frame_Shift_Del_p.W439fs|PTPRC_ENST00000594404.1_Frame_Shift_Del_p.W326fs	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	487	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGCCAGGTCTGGAACATGACT	0.373													8	46	---	---	---	---					
SLC4A10	57282	broad.mit.edu	37	2	162357711	162357711	+	RNA	DEL	C	C	-			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr2:162357711delC	ENST00000605990.1	+	0	344																											GTTTTTTTGTCTGCTCCTTAA	0.383													8	48	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	TT	rs55992531	by1000genomes	TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr3:195400918_195400919insTT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													3	5	---	---	---	---					
WDFY3	23001	broad.mit.edu	37	4	85623548	85623548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr4:85623548delA	ENST00000322366.6	-	55	8910	c.8503delT	c.(8503-8505)atfs	p.Y2835fs	WDFY3_ENST00000295888.4_Frame_Shift_Del_p.Y2852fs			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2852	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTGGTAAATAAAAGAACTCT	0.428													17	63	---	---	---	---					
SNTG1	54212	broad.mit.edu	37	8	51571223	51571223	+	Splice_Site	DEL	G	G	-			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:51571223delG	ENST00000522124.1	+	15	1699	c.1038_splice	c.e15+1	p.K346_splice	SNTG1_ENST00000518864.1_Splice_Site_p.K346_splice|SNTG1_ENST00000517473.1_Splice_Site_p.K346_splice|SNTG1_ENST00000276467.5_Splice_Site_p.K346_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	346	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGATCCTCAAGGTATGATCAA	0.373													15	54	---	---	---	---					
FER1L6	654463	broad.mit.edu	37	8	125113407	125113407	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr8:125113407delC	ENST00000522917.1	+	38	5159	c.4953delC	c.(4951-4953)ggfs	p.G1651fs	FER1L6_ENST00000399018.1_Frame_Shift_Del_p.G1651fs|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1651	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGGAGAGGGCAACTTCAACT	0.433													13	71	---	---	---	---					
OR4C16	219428	broad.mit.edu	37	11	55339950	55339950	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr11:55339950delC	ENST00000314634.3	+	1	347	c.347delC	c.(346-348)agfs	p.T116fs		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T116M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTCATCCTCACGGCTGTTGAC	0.512													22	155	---	---	---	---					
RP11-597A11.6	0	broad.mit.edu	37	14	20146543	20146544	+	RNA	INS	-	-	GTCCC	rs60511353		TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:20146543_20146544insGTCCC	ENST00000555580.1	-	0	225																											CCAACTCAGCAGAACAGTGTCA	0.505													3	6	---	---	---	---					
CLEC14A	161198	broad.mit.edu	37	14	38723908	38723908	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr14:38723908delC	ENST00000342213.2	-	1	1666	c.1320delG	c.(1318-1320)ccfs	p.P441fs		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	441						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCAGGCCCGGCGGGCCCATAG	0.562													11	66	---	---	---	---					
HS3ST4	9951	broad.mit.edu	37	16	26147121	26147121	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5066-01A-01D-1625-08	TCGA-50-5066-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a97315-1906-4774-980e-0879c6ad368e	f64d6df7-fcd5-498a-96b3-854297069bac	g.chr16:26147121delT	ENST00000331351.5	+	2	1315	c.923delT	c.(922-924)acfs	p.I308fs	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	308					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AAACCCGAGATCCCCACCTTT	0.542													18	155	---	---	---	---					
