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
CREBRF	153222	broad.mit.edu	37	5	172560701	172560701	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:172560701C>T	ENST00000540014.1	+	10	2198	c.1879C>T	c.(1879-1881)Ccc>Tcc	p.P627S	CREBRF_ENST00000296953.2_Missense_Mutation_p.P625S			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	625							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										AGAAGGGAATCCCACTGGAGG	0.443000													10	40					0	0	0.008291	0	0
ALPK3	57538	broad.mit.edu	37	15	85406114	85406114	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:85406114C>T	ENST00000258888.5	+	10	5151	c.4984C>T	c.(4984-4986)Ctt>Ttt	p.L1662F		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1662	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGAGACTTCTCTTGTGGGCAG	0.557000													17	95					0	0	0.033300	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413881	26413881	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:26413881G>C	ENST00000289361.6	+	10	1871	c.1503G>C	c.(1501-1503)ttG>ttC	p.L501F	BTN3A1_ENST00000414912.2_Missense_Mutation_p.L449F	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	501	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCAGAATTTTGACCTTGGAGC	0.463000													18	121					0	0	0.012319	0	0
TP53BP2	7159	broad.mit.edu	37	1	223990487	223990487	+	Silent	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:223990487C>G	ENST00000391878.2	-	9	1323	c.555G>C	c.(553-555)ctG>ctC	p.L185L	TP53BP2_ENST00000343537.7_Silent_p.L314L	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	308					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCCGGTCCCTCAGCTCATTAA	0.443000													32	131					0	0	0.045705	0	0
SDC3	9672	broad.mit.edu	37	1	31350069	31350069	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:31350069G>A	ENST00000336798.7	-	1	1518	c.26C>T	c.(25-27)tCa>tTa	p.S9L	SDC3_ENST00000339394.6_Intron|SDC3_ENST00000471567.1_Intron			O75056	SDC3_HUMAN	syndecan 3	0						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGGGGCATGAGGATCCCAG	0.562000													5	16					0	0	0.021553	0	0
BTN2A1	11120	broad.mit.edu	37	6	26463541	26463541	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:26463541C>T	ENST00000429381.1	+	4	712	c.500C>T	c.(499-501)tCt>tTt	p.S167F	BTN2A1_ENST00000541522.1_Missense_Mutation_p.S106F|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S167F|BTN2A1_ENST00000312541.5_Missense_Mutation_p.S167F			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	167					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GAGTGCATATCTAGAGGGTGG	0.587000													9	74					0	0	0.010729	0	0
LMBRD2	92255	broad.mit.edu	37	5	36122457	36122457	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:36122457G>A	ENST00000296603.4	-	9	1507	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	349						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAAACTGATGAGTAGCACTA	0.333000													10	41					0	0	0.006214	0	0
KSR2	283455	broad.mit.edu	37	12	118405983	118405983	+	Silent	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:118405983C>A	ENST00000339824.5	-	1	805	c.78G>T	c.(76-78)ctG>ctT	p.L26L	KSR2_ENST00000425217.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	26					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTTTTGGACCAGTTCGCACT	0.507000													16	170					1.3612e-06	1.4189e-06	0.024245	1	0
IL16	3603	broad.mit.edu	37	15	81575003	81575003	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:81575003G>A	ENST00000394660.2	+	9	1465	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	IL16_ENST00000302987.4_Missense_Mutation_p.G369S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	369	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCTGGGCATCGGCCTGTGCAG	0.642000													26	125					0	0	0.024334	0	0
ZNF563	147837	broad.mit.edu	37	19	12429881	12429881	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:12429881G>A	ENST00000293725.5	-	4	1163	c.958C>T	c.(958-960)Cat>Tat	p.H320Y		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTTCCAAGATGATGAAATGTT	0.438000													23	134					0	0	0.016522	0	0
SBNO1	55206	broad.mit.edu	37	12	123804454	123804454	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:123804454C>G	ENST00000420886.2	-	19	2791	c.2792G>C	c.(2791-2793)gGa>gCa	p.G931A	SBNO1_ENST00000602750.1_Missense_Mutation_p.G930A|SBNO1_ENST00000602398.1_Missense_Mutation_p.G931A|SBNO1_ENST00000267176.4_Missense_Mutation_p.G930A	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	931							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TACCTTATCTCCATCCATAAA	0.338000													6	41					0	0	0.029380	0	0
GBA2	57704	broad.mit.edu	37	9	35739738	35739738	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:35739738C>G	ENST00000378094.4	-	9	1982	c.1469G>C	c.(1468-1470)gGa>gCa	p.G490A	GBA2_ENST00000545786.1_Missense_Mutation_p.G496A|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378103.3_Missense_Mutation_p.G490A			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	490					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACTGTGCCTCCATCAGCCAG	0.532000													7	41					0	0	0.029380	0	0
PNO1	56902	broad.mit.edu	37	2	68389791	68389791	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:68389791G>A	ENST00000263657.2	+	5	707	c.616G>A	c.(616-618)Gat>Aat	p.D206N		NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	206	KH.					nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						AGTTTTGGCTGATGTGTAAGT	0.353000													13	65					0	0	0.020292	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10204253	10204253	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:10204253C>T	ENST00000253109.4	-	5	1232	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	ANGPTL6_ENST00000589181.1_Missense_Mutation_p.E292K|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.E332K	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	332	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			TACACGGGTTCAAGGCCCAGC	0.642000													7	20					0	0	0.038147	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250518	18250518	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:18250518A>T	ENST00000377369.2	+	3	543	c.270A>T	c.(268-270)gaA>gaT	p.E90D	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.E90D|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E90D	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	90					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AGTGCTTTGAACCAGATGCAC	0.368000													11	65					0	0	0.013537	0	0
KPNA2	3838	broad.mit.edu	37	17	66042035	66042035	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:66042035G>A	ENST00000537025.2	+	10	2115	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	KPNA2_ENST00000330459.3_Missense_Mutation_p.E499K|KPNA2_ENST00000582898.1_3'UTR			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	499	Poly-Glu.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCTCTGTAGAGGTGAGTAA	0.328000													23	102					0	0	0.018920	0	0
TPR	7175	broad.mit.edu	37	1	186315362	186315362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:186315362G>A	ENST00000367478.3	-	23	3297	c.3001C>T	c.(3001-3003)Cag>Tag	p.Q1001*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1001					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AACTGTGTCTGAAATTCAGCT	0.348000			T	NTRK1	papillary thyroid								10	78					0	0	0.006214	0	0
DUSP27	92235	broad.mit.edu	37	1	167097324	167097324	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:167097324G>A	ENST00000361200.2	+	6	3122	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E986K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E986K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	986	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ATCCCAGTCAGAGGAACAGGA	0.517000													12	59					0	0	0.010729	0	0
RP1L1	94137	broad.mit.edu	37	8	10470341	10470341	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:10470341G>A	ENST00000382483.3	-	4	1490	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	423					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CACCTCTTCCGAGCTGCCACT	0.667000													13	38					0	0	0.020292	0	0
ZNF704	619279	broad.mit.edu	37	8	81577163	81577163	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:81577163C>G	ENST00000327835.3	-	6	1045	c.814G>C	c.(814-816)Gat>Cat	p.D272H		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	272						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CGGCTTGAATCTGGGATGGGG	0.577000													19	107					0	0	0.049695	0	0
ATRNL1	26033	broad.mit.edu	37	10	117059722	117059722	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:117059722C>T	ENST00000355044.3	+	16	2720	c.2594C>T	c.(2593-2595)tCt>tTt	p.S865F		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	865	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCTTGTACATCTATGGCAAAT	0.433000													11	33					0	0	0.010729	0	0
FANCM	57697	broad.mit.edu	37	14	45665674	45665674	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:45665674C>T	ENST00000267430.5	+	21	5725	c.5640C>T	c.(5638-5640)ttC>ttT	p.F1880F	FANCM_ENST00000542564.2_Silent_p.F1854F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1880	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGAACAAGTTCATTGAGCAGA	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				17	71					0	0	0.028581	0	0
AKNA	80709	broad.mit.edu	37	9	117120255	117120255	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:117120255G>C	ENST00000307564.4	-	12	2846	c.2685C>G	c.(2683-2685)atC>atG	p.I895M	AKNA_ENST00000374088.3_Missense_Mutation_p.I895M|AKNA_ENST00000223791.3_Missense_Mutation_p.I355M|AKNA_ENST00000374075.5_Missense_Mutation_p.I814M	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	895					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCGCTCAGAGATGCCGCTTC	0.642000													10	65					0	0	0.008291	0	0
NWD1	284434	broad.mit.edu	37	19	16875993	16875993	+	Silent	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:16875993C>A	ENST00000524140.2	+	10	2818	c.2400C>A	c.(2398-2400)ctC>ctA	p.L800L	NWD1_ENST00000552788.1_Silent_p.L800L|NWD1_ENST00000549814.1_Silent_p.L800L|NWD1_ENST00000523826.1_Silent_p.L594L|NWD1_ENST00000379808.3_Silent_p.L800L|NWD1_ENST00000339803.6_Silent_p.L665L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	800							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTGGAGCTCCGAGGCATGG	0.587000													5	25					0.000602214	0.000618994	0.014758	1	0
ZNF570	148268	broad.mit.edu	37	19	37975067	37975067	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:37975067G>C	ENST00000330173.1	+	5	1072	c.543G>C	c.(541-543)aaG>aaC	p.K181N	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.K237N	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTACACAAAAGATAATCCCCA	0.358000													42	183					0	0	0.042209	0	0
AEN	64782	broad.mit.edu	37	15	89173347	89173347	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:89173347G>A	ENST00000332810.3	+	4	951	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	AEN_ENST00000379231.3_Missense_Mutation_p.R267Q	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	267					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						GAGCTCTACCGGCTGGTGGAG	0.607000													8	42					0	0	0.038147	0	0
ZNF713	349075	broad.mit.edu	37	7	56007242	56007242	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:56007242G>A	ENST00000429591.2	+	4	874	c.836G>A	c.(835-837)gGa>gAa	p.G279E	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GATGAATGTGGAAAAAGATTC	0.458000													8	52					0	0	0.047766	0	0
NTNG2	84628	broad.mit.edu	37	9	135073644	135073644	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:135073644G>A	ENST00000393229.3	+	3	1281	c.505G>A	c.(505-507)Gag>Aag	p.E169K	NTNG2_ENST00000393228.4_Missense_Mutation_p.E169K|NTNG2_ENST00000372179.3_Missense_Mutation_p.E169K|NTNG2_ENST00000360670.3_Missense_Mutation_p.E169K	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	169	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GTTCTACGCCGAGGACTGCAT	0.672000													6	19					0	0	0.021553	0	0
LOXL2	4017	broad.mit.edu	37	8	23174627	23174627	+	Splice_Site	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:23174627C>G	ENST00000389131.3	-	9	1840	c.1470_splice	c.e9-1	p.E491_splice		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	491	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TACCAGGTCTCCTGGAAGAAC	0.488000													33	125					0	0	0.015359	0	0
NMI	9111	broad.mit.edu	37	2	152132175	152132175	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:152132175C>G	ENST00000243346.5	-	6	927	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	153					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		TTAGAAACTTCTACATAAACC	0.343000													6	73					0	0	0.021553	0	0
ERBB4	2066	broad.mit.edu	37	2	212566850	212566850	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:212566850G>C	ENST00000342788.4	-	12	1641	c.1331C>G	c.(1330-1332)tCt>tGt	p.S444C	ERBB4_ENST00000436443.1_Missense_Mutation_p.S444C|ERBB4_ENST00000402597.1_Missense_Mutation_p.S444C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	444					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAACTGTAGAGAGGTGATGCC	0.458000										TSP Lung(8;0.080)			13	83					0	0	0.016723	0	0
NCOR1	9611	broad.mit.edu	37	17	15965063	15965063	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:15965063C>T	ENST00000268712.3	-	37	5790	c.5533G>A	c.(5533-5535)Gaa>Aaa	p.E1845K	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.E429K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1845	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGGCAGCTTCATGCTTACTC	0.507000													24	113					0	0	0.021523	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42110227	42110227	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:42110227G>C	ENST00000457542.2	+	17	2211	c.1925G>C	c.(1924-1926)gGa>gCa	p.G642A	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G481A|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G648A|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G525A|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G642A	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	648										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATCAGCAGTGGAAAGCAGAAG	0.517000													28	140					0	0	0.037714	0	0
ZHX2	22882	broad.mit.edu	37	8	123965799	123965799	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:123965799G>A	ENST00000314393.4	+	3	2884	c.2049G>A	c.(2047-2049)ctG>ctA	p.L683L		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	683						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GATGCTTGCTGAAAACGGGAA	0.557000													5	51					0	0	0.021553	0	0
C15orf27	123591	broad.mit.edu	37	15	76496185	76496185	+	Silent	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:76496185C>G	ENST00000388942.3	+	11	1401	c.1125C>G	c.(1123-1125)ctC>ctG	p.L375L		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	375						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						ACATGCCCCTCAAACTCGGCG	0.632000													23	103					0	0	0.014323	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907868	12907868	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:12907868C>T	ENST00000317869.6	-	2	500	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGCGTTTCCTCGGTTCACTTT	0.483000													9	150					0	0	0.008291	0	0
RP11-535M15.2	0	broad.mit.edu	37	9	99489552	99489552	+	RNA	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:99489552C>T	ENST00000602289.1	+	0	541																											GTGAACTGGTCTGCTGACCCC	0.478000													4	9					0	0	0.009096	0	0
HPN	3249	broad.mit.edu	37	19	35551551	35551551	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:35551551G>T	ENST00000262626.2	+	9	1466	c.641G>T	c.(640-642)cGa>cTa	p.R214L	HPN_ENST00000392226.1_Missense_Mutation_p.R214L|HPN_ENST00000597419.1_Missense_Mutation_p.R56L|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	214	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GTCCTGTCCCGATGGCGAGTG	0.682000													10	39					3.07112e-06	3.19627e-06	0.010729	1	0
SBNO1	55206	broad.mit.edu	37	12	123805101	123805101	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:123805101C>T	ENST00000420886.2	-	18	2544	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K	SBNO1_ENST00000602750.1_Missense_Mutation_p.E848K|SBNO1_ENST00000602398.1_Missense_Mutation_p.E849K|SBNO1_ENST00000267176.4_Missense_Mutation_p.E848K	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	849							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGAGCCCTTTCCACAGCATCC	0.383000													30	118					0	0	0.037714	0	0
TRIM65	201292	broad.mit.edu	37	17	73887415	73887415	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:73887415C>T	ENST00000269383.3	-	6	1064	c.999G>A	c.(997-999)ctG>ctA	p.L333L		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	333	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GATCAAAGGTCAGATTGCGAT	0.597000													8	19					0	0	0.008291	0	0
ZP2	7783	broad.mit.edu	37	16	21213295	21213295	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:21213295G>A	ENST00000574002.1	-	13	1819	c.1337C>T	c.(1336-1338)aCg>aTg	p.T446M	ZP2_ENST00000574091.1_Missense_Mutation_p.T446M|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.T446M			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	446	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGGAAAATCCGTCCAGAGAGC	0.363000													17	81					0	0	0.033300	0	0
SPG7	6687	broad.mit.edu	37	16	89597147	89597147	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:89597147C>T	ENST00000268704.2	+	7	933	c.918C>T	c.(916-918)gtC>gtT	p.V306V	SPG7_ENST00000341316.2_Silent_p.V306V	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	306					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGAAAGGAGTCAGCTTCAAAG	0.517000													8	79					0	0	0.038147	0	0
PROM2	150696	broad.mit.edu	37	2	95953210	95953210	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:95953210G>T	ENST00000317620.9	+	20	2375	c.2242G>T	c.(2242-2244)Gag>Tag	p.E748*	PROM2_ENST00000317668.4_Nonsense_Mutation_p.E748*|PROM2_ENST00000403131.2_Nonsense_Mutation_p.E748*|PROM2_ENST00000542147.1_Nonsense_Mutation_p.E699*	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	748						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTGAGAGAGGAGGTGAGTGG	0.642000													5	40					0.000602214	0.000618994	0.014758	1	0
PTPN12	5782	broad.mit.edu	37	7	77256781	77256781	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:77256781C>T	ENST00000248594.6	+	13	2057	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L	PTPN12_ENST00000415482.2_Silent_p.L476L|PTPN12_ENST00000435495.2_Silent_p.L465L	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	595						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GAACACCCCTCAGTTTTACTA	0.403000													19	160					0	0	0.014323	0	0
DIDO1	11083	broad.mit.edu	37	20	61525058	61525058	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:61525058C>T	ENST00000266070.4	-	12	3386	c.3061G>A	c.(3061-3063)Gac>Aac	p.D1021N	DIDO1_ENST00000395343.1_Missense_Mutation_p.D1021N|DIDO1_ENST00000395335.2_Missense_Mutation_p.D1021N|DIDO1_ENST00000395340.1_Missense_Mutation_p.D1021N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1021					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TATCTTGGGTCAGGAGATGAG	0.483000													18	87					0	0	0.043863	0	0
TSR3	115939	broad.mit.edu	37	16	1399439	1399439	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:1399439C>T	ENST00000007390.2	-	6	1044	c.938G>A	c.(937-939)tGa>tAa	p.*313*	BAIAP3_ENST00000324385.5_3'UTR|BAIAP3_ENST00000397488.2_3'UTR|BAIAP3_ENST00000397489.1_3'UTR	NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		CTGCAACCCTCAGTCTCTCTG	0.567000													39	322					0	0	0.033182	0	0
PIGR	5284	broad.mit.edu	37	1	207112542	207112542	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:207112542C>T	ENST00000356495.4	-	3	493	c.310G>A	c.(310-312)Gac>Aac	p.D104N		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	104	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGCCCGGAGTCATCCTGGCTC	0.582000													9	27					0	0	0.047766	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38348898	38348898	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:38348898C>A	ENST00000436615.3	+	12	1569	c.1079C>A	c.(1078-1080)tCc>tAc	p.S360Y	RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.S409Y|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.S415Y|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.S360Y	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	566					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GAAGTGATCTCCAAAATGAAG	0.527000													38	233					4.67007e-22	5.03397e-22	0.033182	1	0
RNF213	57674	broad.mit.edu	37	17	78320513	78320513	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:78320513C>G	ENST00000582970.1	+	29	8521	c.8378C>G	c.(8377-8379)tCa>tGa	p.S2793*	RNF213_ENST00000508628.2_Nonsense_Mutation_p.S2842*|RNF213_ENST00000336301.6_Nonsense_Mutation_p.S866*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTGCCTACTCAGATCTCTTC	0.642000													4	11					0	0	0.021553	0	0
CROCC	9696	broad.mit.edu	37	1	17292539	17292539	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:17292539G>A	ENST00000375541.5	+	29	4690	c.4621G>A	c.(4621-4623)Gag>Aag	p.E1541K		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1541					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCAGCTGGCCGAGATGGAGGC	0.632000													6	34					0	0	0.029380	0	0
MFSD6L	162387	broad.mit.edu	37	17	8700953	8700953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:8700953G>A	ENST00000329805.4	-	1	1714	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	496						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AAGTGGCCTCGGAACAAGGCA	0.612000													9	32					0	0	0.047766	0	0
RBM25	58517	broad.mit.edu	37	14	73566393	73566393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:73566393G>T	ENST00000261973.7	+	9	1087	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	RBM25_ENST00000527432.1_Nonsense_Mutation_p.E268*|RBM25_ENST00000540173.1_Nonsense_Mutation_p.E268*|RBM25_ENST00000525321.1_Nonsense_Mutation_p.E268*|RBM25_ENST00000526754.1_Nonsense_Mutation_p.E268*	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	268					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AAATGCTATAGAAATGGAAGA	0.348000													18	90					1.50039e-11	1.59657e-11	0.012319	1	0
RXFP3	51289	broad.mit.edu	37	5	33938124	33938124	+	Missense_Mutation	SNP	G	G	A	rs138975968		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:33938124G>A	ENST00000330120.3	+	1	1634	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	427						integral to plasma membrane	N-formyl peptide receptor activity	p.E427*(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCCGGAGCACGAGGATCAGGG	0.706000													6	23					0	0	0.029380	0	0
FRAS1	80144	broad.mit.edu	37	4	79328882	79328882	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:79328882G>C	ENST00000264895.6	+	31	4635	c.4195G>C	c.(4195-4197)Gat>Cat	p.D1399H	FRAS1_ENST00000325942.6_Missense_Mutation_p.D1399H	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1398					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCACCTGCCTGATGGGAGGAC	0.587000													8	56					0	0	0.038147	0	0
TNS1	7145	broad.mit.edu	37	2	218749773	218749773	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:218749773C>G	ENST00000171887.4	-	14	1308	c.856G>C	c.(856-858)Gat>Cat	p.D286H	TNS1_ENST00000310858.6_Missense_Mutation_p.D317H|TNS1_ENST00000419504.1_Missense_Mutation_p.D286H|TNS1_ENST00000430930.1_Missense_Mutation_p.D286H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	286	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AAAGCATCATCAAGGTCCTCC	0.577000													4	52					0	0	0.009096	0	0
ABRA	137735	broad.mit.edu	37	8	107782097	107782097	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:107782097C>G	ENST00000311955.3	-	1	376	c.322G>C	c.(322-324)Gag>Cag	p.E108Q		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	108					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTGGACACCTCTTTCTTTTTG	0.552000													6	137					0	0	0.021553	0	0
MS4A6E	245802	broad.mit.edu	37	11	60107353	60107353	+	Silent	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:60107353G>C	ENST00000300182.4	+	3	434	c.369G>C	c.(367-369)ctG>ctC	p.L123L		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	123						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						CTCTGTCTCTGATGCTGGTTT	0.483000													27	173					0	0	0.034045	0	0
CDH3	1001	broad.mit.edu	37	16	68729708	68729708	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:68729708G>A	ENST00000264012.4	+	15	2706	c.2162G>A	c.(2161-2163)gGt>gAt	p.G721D	CDH3_ENST00000429102.2_Missense_Mutation_p.G721D|CDH3_ENST00000581171.1_Missense_Mutation_p.G666D	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	721					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CTCCACCGAGGTCTGGAGGCC	0.602000													7	64					0	0	0.029380	0	0
TMBIM6	7009	broad.mit.edu	37	12	50152485	50152485	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:50152485G>A	ENST00000423828.1	+	7	955	c.627G>A	c.(625-627)ctG>ctA	p.L209L	TMBIM6_ENST00000549385.1_Silent_p.L151L|TMBIM6_ENST00000267115.5_Silent_p.L151L|TMBIM6_ENST00000547798.1_Silent_p.L114L|TMBIM6_ENST00000395006.4_Silent_p.L151L|TMBIM6_ENST00000552699.1_Silent_p.L209L	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	151					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTCAGCCCTGAGCTTGTTGC	0.443000													21	79					0	0	0.055883	0	0
TMEM101	84336	broad.mit.edu	37	17	42092252	42092252	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:42092252G>A	ENST00000589334.1	-	2	384	c.69C>T	c.(67-69)ctC>ctT	p.L23L	TMEM101_ENST00000542039.1_Intron|TMEM101_ENST00000587529.1_Silent_p.L23L|TMEM101_ENST00000206380.3_Silent_p.L23L			Q96IK0	TM101_HUMAN	transmembrane protein 101	23					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGCAGCGTGTGAGCAGCACCG	0.627000													22	63					0	0	0.055883	0	0
CDKL4	344387	broad.mit.edu	37	2	39411779	39411779	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:39411779C>G	ENST00000378803.1	-	7	744	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	CDKL4_ENST00000395035.3_Missense_Mutation_p.E249Q	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	249	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	p.E249Q(1)		breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				AACTTTTCCTCAAGAGTTTCC	0.323000													3	40					0	0	0.004672	0	0
FAM102B	284611	broad.mit.edu	37	1	109154857	109154857	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:109154857C>T	ENST00000370035.3	+	4	686	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	FAM102B_ENST00000405454.1_Missense_Mutation_p.R116C	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	116										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TACCACTCGCCGCTGTTTACT	0.363000													24	72					0	0	0.024334	0	0
GIGYF2	26058	broad.mit.edu	37	2	233671258	233671258	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:233671258C>G	ENST00000373566.3	+	16	1960	c.1763C>G	c.(1762-1764)tCt>tGt	p.S588C	GIGYF2_ENST00000409480.1_Missense_Mutation_p.S588C|GIGYF2_ENST00000452341.2_Missense_Mutation_p.S397C|GIGYF2_ENST00000409547.1_Missense_Mutation_p.S566C|GIGYF2_ENST00000409451.3_Missense_Mutation_p.S587C|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S560C|GIGYF2_ENST00000373563.4_Missense_Mutation_p.S566C			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	566					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTACTATGTCTTTATTGGTG	0.438000													33	147					0	0	0.045705	0	0
FANCA	2175	broad.mit.edu	37	16	89877208	89877208	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:89877208C>G	ENST00000389301.3	-	5	459	c.429G>C	c.(427-429)aaG>aaC	p.K143N	FANCA_ENST00000543736.1_Intron|FANCA_ENST00000563673.1_Missense_Mutation_p.K143N|FANCA_ENST00000568369.1_Missense_Mutation_p.K143N|FANCA_ENST00000534992.1_Missense_Mutation_p.K143N|FANCA_ENST00000389302.3_Missense_Mutation_p.K143N	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	143					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AAGACAGCTTCTTCTGAAAAG	0.348000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	105					0	0	0.043863	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398445	47398445	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:47398445G>C	ENST00000310638.4	-	11	1383	c.1352C>G	c.(1351-1353)tCa>tGa	p.S451*	CYP4A11_ENST00000371904.4_Nonsense_Mutation_p.S452*|CYP4A11_ENST00000371905.1_Nonsense_Mutation_p.S451*|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	451					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			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)	TGATCCTCCTGAGAAGGGCAG	0.507000													61	311					0	0	0.048971	0	0
ASB17	127247	broad.mit.edu	37	1	76397847	76397847	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:76397847C>A	ENST00000284142.6	-	1	269	c.130G>T	c.(130-132)Gaa>Taa	p.E44*		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	44					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ATCCTTGGTTCGTAACAGTGA	0.398000													34	132					1.414e-09	1.49744e-09	0.017118	1	0
NSD1	64324	broad.mit.edu	37	5	176673765	176673765	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:176673765G>A	ENST00000439151.2	+	10	4510	c.4465G>A	c.(4465-4467)Gat>Aat	p.D1489N	NSD1_ENST00000361032.4_Missense_Mutation_p.D1386N|NSD1_ENST00000354179.4_Missense_Mutation_p.D1220N|NSD1_ENST00000347982.4_Missense_Mutation_p.D1220N	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1489					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGTGAAAAATGATGACTCGTC	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	54					0	0	0.013537	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558534	129558534	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:129558534C>A	ENST00000422113.2	-	9	3512	c.3186G>T	c.(3184-3186)agG>agT	p.R1062S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R600S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1062						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGATGGAGTTCCTGGTGGGGT	0.517000													23	111					2.39556e-15	2.56557e-15	0.016522	1	0
CD22	933	broad.mit.edu	37	19	35828818	35828818	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:35828818G>A	ENST00000085219.5	+	5	945	c.879G>A	c.(877-879)acG>acA	p.T293T	CD22_ENST00000341773.6_Intron|CD22_ENST00000544992.2_Silent_p.T293T|CD22_ENST00000419549.2_Silent_p.T121T|CD22_ENST00000536635.2_Silent_p.T293T|CD22_ENST00000270311.6_Silent_p.T173T|CD22_ENST00000594250.1_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	293	Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding	p.T293T(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	ATACATTCACGCTAAACCTGC	0.567000													4	43					0	0	0.014758	0	0
NR3C2	4306	broad.mit.edu	37	4	149357542	149357542	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:149357542C>T	ENST00000355292.3	-	2	833	c.471G>A	c.(469-471)gtG>gtA	p.V157V	NR3C2_ENST00000342437.4_Silent_p.V157V|NR3C2_ENST00000344721.4_Silent_p.V157V|NR3C2_ENST00000511528.1_Silent_p.V157V|NR3C2_ENST00000512865.1_Silent_p.V157V|NR3C2_ENST00000358102.3_Silent_p.V157V			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	157	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AGGGCGTGTTCACACAACTTA	0.448000													16	132					0	0	0.033300	0	0
CECR5	27440	broad.mit.edu	37	22	17630458	17630458	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:17630458C>T	ENST00000336737.4	-	2	329	c.304G>A	c.(304-306)Gag>Aag	p.E102K	CECR5_ENST00000480451.1_5'UTR|CECR5_ENST00000155674.5_Missense_Mutation_p.E72K|CECR5_ENST00000399852.3_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	102							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				GCTGACAGCTCCTGGGCTTTG	0.597000													14	95					0	0	0.028581	0	0
ATM	472	broad.mit.edu	37	11	108106437	108106437	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:108106437C>T	ENST00000278616.4	+	5	757	c.372C>T	c.(370-372)atC>atT	p.I124I	ATM_ENST00000452508.2_Silent_p.I124I	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	124					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TAAATTATATCATGGATACAG	0.313000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			15	42					0	0	0.024245	0	0
MUC4	4585	broad.mit.edu	37	3	195511937	195511937	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:195511937C>T	ENST00000463781.3	-	2	6973	c.6514G>A	c.(6514-6516)Ggt>Agt	p.G2172S	MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	951					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.577000													2	0					0	0	0.014758	0	0
ASXL3	80816	broad.mit.edu	37	18	31325319	31325319	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr18:31325319G>A	ENST00000269197.5	+	12	5507	c.5507G>A	c.(5506-5508)gGa>gAa	p.G1836E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1836					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGGACTGTAGGAGAACACACT	0.483000													44	210					0	0	0.048971	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188898	11188898	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:11188898C>T	ENST00000382435.4	+	1	502	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	95	DUF6 1.					integral to membrane											CGACCCCCTTCTGGGACCTCC	0.602000													35	237					0	0	0.021022	0	0
FOXE1	2304	broad.mit.edu	37	9	100616544	100616544	+	Silent	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:100616544C>G	ENST00000375123.3	+	1	1009	c.348C>G	c.(346-348)cgC>cgG	p.R116R		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	116					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				AGATCCCGCGCGAGGCCGGCC	0.637000													8	64					0	0	0.006214	0	0
SCN7A	6332	broad.mit.edu	37	2	167262119	167262119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:167262119C>A	ENST00000409855.1	-	25	5146	c.5020G>T	c.(5020-5022)Gaa>Taa	p.E1674*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1674					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1674K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GGTGACTTTTCCTTAGCTTTG	0.353000													38	189					3.09479e-21	3.33053e-21	0.027894	1	0
NMT1	4836	broad.mit.edu	37	17	43171126	43171126	+	Silent	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:43171126C>G	ENST00000592782.1	+	5	590	c.459C>G	c.(457-459)ccC>ccG	p.P153P	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Silent_p.P153P			P30419	NMT1_HUMAN	N-myristoyltransferase 1	153					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				ACACCCTGCCCCAGGGCTTCA	0.597000													9	54					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179497295	179497295	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:179497295C>G	ENST00000589042.1	-	235	43662	c.43438G>C	c.(43438-43440)Gaa>Caa	p.E14480Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12839Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5415Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11912Q|TTN_ENST00000342175.6_Missense_Mutation_p.E5607Q|TTN_ENST00000359218.5_Missense_Mutation_p.E5540Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12839	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCAGCTTCAAACATGTAT	0.348000													25	104					0	0	0.018920	0	0
GBA2	57704	broad.mit.edu	37	9	35741858	35741858	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:35741858C>G	ENST00000378094.4	-	4	1110	c.597G>C	c.(595-597)caG>caC	p.Q199H	GBA2_ENST00000545786.1_Missense_Mutation_p.Q205H|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378103.3_Missense_Mutation_p.Q199H			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	199					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTACACAGTCTGCCCTTCCC	0.567000													3	38					0	0	0.004672	0	0
ULK1	8408	broad.mit.edu	37	12	132404537	132404537	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:132404537G>A	ENST00000321867.4	+	26	3168	c.2817G>A	c.(2815-2817)ctG>ctA	p.L939L	ULK1_ENST00000540647.1_Silent_p.L184L	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	939					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGCGCAGGCTGAATGAGCTGT	0.647000													5	44					0	0	0.014758	0	0
MIS12	79003	broad.mit.edu	37	17	5392414	5392414	+	Missense_Mutation	SNP	C	C	G	rs34335907		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:5392414C>G	ENST00000381165.3	+	3	785	c.232C>G	c.(232-234)Ctt>Gtt	p.L78V	MIS12_ENST00000573759.1_Missense_Mutation_p.L78V	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	78					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						TTTTGATAACCTTTTTAGCAA	0.403000													12	45					0	0	0.016723	0	0
CRYZL1	9946	broad.mit.edu	37	21	34994360	34994360	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr21:34994360C>T	ENST00000361534.2	-	5	370	c.231G>A	c.(229-231)atG>atA	p.M77I	CRYZL1_ENST00000290244.5_Missense_Mutation_p.M53I|CRYZL1_ENST00000413017.2_Missense_Mutation_p.M53I|CRYZL1_ENST00000381540.3_Missense_Mutation_p.M53I|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Missense_Mutation_p.M53I|CRYZL1_ENST00000381554.3_Missense_Mutation_p.M53I			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	53					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						TTTTCATCTTCATTTCTGCCA	0.338000													28	119					0	0	0.045705	0	0
YTHDC1	91746	broad.mit.edu	37	4	69203024	69203024	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:69203024C>T	ENST00000344157.4	-	4	939	c.604G>A	c.(604-606)Gag>Aag	p.E202K	YTHDC1_ENST00000355665.3_Missense_Mutation_p.E202K|YTHDC1_ENST00000579690.1_Missense_Mutation_p.E202K	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	202	Glu-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						actccttcctcctcATTCTCA	0.463000													5	35					0	0	0.014758	0	0
RAD21	5885	broad.mit.edu	37	8	117874120	117874120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:117874120C>A	ENST00000297338.2	-	4	621	c.334G>T	c.(334-336)Gaa>Taa	p.E112*	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	112					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGAAATTCTTCAGGTAAAGTA	0.378000													29	144					8.58068e-18	9.21937e-18	0.034045	1	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	51					0	0	0.009096	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10220614	10220614	+	Missense_Mutation	SNP	G	G	A	rs149200523	byFrequency	TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:10220614G>A	ENST00000428358.1	+	7	788	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	PPAN_ENST00000253107.7_Missense_Mutation_p.A206T|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A206T|PPAN_ENST00000393793.1_Missense_Mutation_p.A153T|PPAN_ENST00000556468.1_Missense_Mutation_p.A206T	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		206	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCCTGTGGGCGCGAGTCGCGG	0.627000													8	107					0	0	0.008291	0	0
ITSN1	6453	broad.mit.edu	37	21	35166702	35166702	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr21:35166702G>A	ENST00000381318.3	+	17	2170	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	ITSN1_ENST00000399353.1_Missense_Mutation_p.E591K|ITSN1_ENST00000399349.1_Missense_Mutation_p.E628K|ITSN1_ENST00000399326.3_Missense_Mutation_p.E628K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E628K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E628K|ITSN1_ENST00000437442.2_Missense_Mutation_p.E628K|ITSN1_ENST00000399367.3_Missense_Mutation_p.E628K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E628K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399338.4_Missense_Mutation_p.E628K|ITSN1_ENST00000379960.5_Missense_Mutation_p.E628K|ITSN1_ENST00000381291.4_Missense_Mutation_p.E628K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	628	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CATGGAGGCTGAACGACTGAA	0.383000													12	67					0	0	0.010729	0	0
PSMD2	5708	broad.mit.edu	37	3	184022098	184022098	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:184022098C>T	ENST00000310118.4	+	12	2016	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G	PSMD2_ENST00000439383.1_Silent_p.G356G|PSMD2_ENST00000435761.1_Silent_p.G327G|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	486					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCAGGCTAGGCTTGGCTTATG	0.483000													51	137					0	0	0.048971	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134473643	134473643	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:134473643G>A	ENST00000372195.1	-	13	2292	c.2049C>T	c.(2047-2049)gaC>gaT	p.D683D	RAPGEF1_ENST00000372190.3_Silent_p.D684D|RAPGEF1_ENST00000372189.3_Silent_p.D666D			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	666					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGGACAGCTCGTCCACTTCCT	0.592000													8	22					0	0	0.008291	0	0
TRPM1	4308	broad.mit.edu	37	15	31362189	31362189	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:31362189G>A	ENST00000559179.1	-	3	391	c.258C>T	c.(256-258)ttC>ttT	p.F86F	TRPM1_ENST00000542188.1_Intron|TRPM1_ENST00000397795.2_Intron|TRPM1_ENST00000256552.6_Intron	NM_001252030.1	NP_001238959.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	0					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGCCGCCAATGAAAGCTGTGA	0.463000													53	309					0	0	0.048971	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141656	239141656	+	RNA	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:239141656C>G	ENST00000456601.1	+	0	906																											TCAAATTTTTCTAAACTCATG	0.358000													11	79					0	0	0.010729	0	0
DUSP19	142679	broad.mit.edu	37	2	183960345	183960345	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:183960345G>A	ENST00000354221.4	+	4	788	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	DUSP19_ENST00000342619.6_Missense_Mutation_p.E154K|DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000444562.1_RNA|AC064871.3_ENST00000413954.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	205					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						AGAGGGCAAAGAAAGCAATAA	0.398000													10	50					0	0	0.008291	0	0
PKP4	8502	broad.mit.edu	37	2	159530188	159530188	+	Splice_Site	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:159530188G>A	ENST00000389757.3	+	18	3049		c.e18-1		PKP4_ENST00000389759.3_Splice_Site|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4						cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TCTCTACCTAGATCATCTCTG	0.478000										HNSCC(62;0.18)			11	53					0	0	0.010729	0	0
TRIP10	9322	broad.mit.edu	37	19	6741022	6741022	+	Splice_Site	SNP	A	A	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:6741022A>T	ENST00000313244.9	+	2	61	c.24_splice	c.e2-1	p.D9_splice	TRIP10_ENST00000313285.8_Splice_Site_p.D9_splice|TRIP10_ENST00000596758.1_Splice_Site_p.D9_splice|TRIP10_ENST00000600428.1_5'UTR|TRIP10_ENST00000596543.1_3'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	9	FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCATGTCAGGATCAGTTCGAG	0.617000													7	44					0	0	0.038147	0	0
PDCD11	22984	broad.mit.edu	37	10	105194617	105194617	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:105194617G>A	ENST00000369797.3	+	25	3824	c.3730G>A	c.(3730-3732)Gag>Aag	p.E1244K		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1244	S1 motif 11.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GACTCCCAACGAGGGGCTGAC	0.547000													10	39					0	0	0.006214	0	0
NONO	4841	broad.mit.edu	37	X	70514197	70514197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:70514197C>T	ENST00000535149.1	+	3	845	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	NONO_ENST00000373841.1_Nonsense_Mutation_p.Q157*|NONO_ENST00000373856.3_Nonsense_Mutation_p.Q157*|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Nonsense_Mutation_p.Q157*	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	157	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AAACCTTCCTCAGTATGTGTC	0.517000			T	TFE3	papillary renal cancer								16	41					0	0	0.038395	0	0
TP53BP2	7159	broad.mit.edu	37	1	223990037	223990037	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:223990037C>T	ENST00000391878.2	-	10	1387	c.619G>A	c.(619-621)Gat>Aat	p.D207N	TP53BP2_ENST00000343537.7_Missense_Mutation_p.D336N|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	330					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGATTTCCATCAGATGAAACC	0.458000													7	49					0	0	0.038147	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754586	140754586	+	Silent	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:140754586G>C	ENST00000517434.1	+	1	936	c.936G>C	c.(934-936)tcG>tcC	p.S312S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGGACTCGAGTTTTTATG	0.393000													32	148					0	0	0.037714	0	0
ZNF627	199692	broad.mit.edu	37	19	11725686	11725686	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:11725686C>T	ENST00000361113.5	+	3	383	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	ZNF627_ENST00000588174.1_Missense_Mutation_p.P59S	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						ATTCAAAATTCCCAGGAGAAA	0.289000													3	21					0	0	0.004672	0	0
KAT7	11143	broad.mit.edu	37	17	47886529	47886529	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:47886529C>G	ENST00000503935.2	+	6	1280	c.244C>G	c.(244-246)Cac>Gac	p.H82D	KAT7_ENST00000259021.4_Missense_Mutation_p.H238D|KAT7_ENST00000435742.2_Intron|KAT7_ENST00000424009.2_Intron|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000509773.1_Intron|KAT7_ENST00000454930.2_Missense_Mutation_p.H99D			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	238					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										GATGCTGTCTCACAGGCAAGA	0.478000													10	49					0	0	0.010729	0	0
TACC2	10579	broad.mit.edu	37	10	123844325	123844325	+	Silent	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:123844325G>C	ENST00000369005.1	+	4	2650	c.2310G>C	c.(2308-2310)tcG>tcC	p.S770S	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.S770S|TACC2_ENST00000334433.3_Silent_p.S770S|TACC2_ENST00000515273.1_Silent_p.S770S|TACC2_ENST00000453444.2_Silent_p.S770S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	770						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTGATGCGTCGAGACAGGAAT	0.607000													16	79					0	0	0.038395	0	0
CCDC97	90324	broad.mit.edu	37	19	41828509	41828509	+	Silent	SNP	C	C	T	rs143105404		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:41828509C>T	ENST00000269967.3	+	5	1043	c.921C>T	c.(919-921)gaC>gaT	p.D307D		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	307										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCACAGTAGACGACAACCCCG	0.612000													9	88					0	0	0.006214	0	0
KCNB2	9312	broad.mit.edu	37	8	73850115	73850115	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:73850115G>A	ENST00000523207.1	+	3	3113	c.2525G>A	c.(2524-2526)aGa>aAa	p.R842K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	842					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGTGATGGGAGAGACCCTTTA	0.527000													10	71					0	0	0.006214	0	0
POLR3A	11128	broad.mit.edu	37	10	79784393	79784393	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:79784393C>T	ENST00000372371.3	-	5	696	c.559G>A	c.(559-561)Gat>Aat	p.D187N		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	187					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ACAATGGGATCCACCACTTTT	0.383000													13	66					0	0	0.013537	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97373783	97373783	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:97373783C>T	ENST00000371224.2	-	14	1878	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.E579K	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	581	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	CAGATCCCTTCGCTGTGCCCC	0.502000													7	179					0	0	0.047766	0	0
ME3	10873	broad.mit.edu	37	11	86153891	86153891	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:86153891C>T	ENST00000543262.1	-	14	1951	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	ME3_ENST00000359636.2_Missense_Mutation_p.R542Q|ME3_ENST00000393324.3_Missense_Mutation_p.R542Q|RP11-317J19.1_ENST00000524610.1_RNA	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	542					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AGACACGTCTCGGATGGTGCT	0.517000													12	68					0	0	0.024245	0	0
KIAA0922	23240	broad.mit.edu	37	4	154553947	154553947	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:154553947G>A	ENST00000409959.3	+	32	4334	c.4285G>A	c.(4285-4287)Ggc>Agc	p.G1429S	KIAA0922_ENST00000440693.1_Missense_Mutation_p.G1345S|KIAA0922_ENST00000409663.3_Missense_Mutation_p.G1428S	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1428						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCTGGAGAACGGCGTGCCTTG	0.532000													11	51					0	0	0.008291	0	0
CDSN	1041	broad.mit.edu	37	6	31084503	31084503	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:31084503C>T	ENST00000376288.2	-	2	915	c.889G>A	c.(889-891)Gag>Aag	p.E297K	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	297	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCCACCACCTCGTAGCCACCA	0.547000													5	41					0	0	0.014758	0	0
GPR152	390212	broad.mit.edu	37	11	67220094	67220094	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:67220094G>A	ENST00000312457.2	-	1	106	c.102C>T	c.(100-102)gtC>gtT	p.V34V	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_5'UTR	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	34						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCACCAGGAAGACCGTGTCCC	0.667000													6	14					0	0	0.029380	0	0
MDN1	23195	broad.mit.edu	37	6	90472197	90472197	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:90472197C>G	ENST00000369393.3	-	16	2312	c.2197G>C	c.(2197-2199)Gag>Cag	p.E733Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E733Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	733					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGAGTTCCTCAAATGCCTCC	0.423000													4	75					0	0	0.009096	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30876222	30876222	+	Nonsense_Mutation	SNP	G	G	A	rs79465544		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:30876222G>A	ENST00000251071.5	-	11	2764	c.2014C>T	c.(2014-2016)Caa>Taa	p.Q672*	CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.Q672*|CAPRIN2_ENST00000395805.2_Nonsense_Mutation_p.Q672*|CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.Q339*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.Q672*	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	672					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAATCACTTTGACTGGACAGA	0.358000													7	71					0	0	0.047766	0	0
SMTNL2	342527	broad.mit.edu	37	17	4510765	4510765	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:4510765C>T	ENST00000389313.4	+	8	1436	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	SMTNL2_ENST00000338859.4_Silent_p.L313L	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	457										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		GTACAACCACCTGCGTCGCTT	0.617000													22	94					0	0	0.024334	0	0
CLUL1	27098	broad.mit.edu	37	18	627346	627346	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr18:627346G>A	ENST00000581619.1	+	5	1595	c.748G>A	c.(748-750)Gag>Aag	p.E250K	CLUL1_ENST00000338387.7_Missense_Mutation_p.E225K|CLUL1_ENST00000400606.2_Missense_Mutation_p.E225K|CLUL1_ENST00000579494.1_Missense_Mutation_p.E225K|CLUL1_ENST00000540035.1_Missense_Mutation_p.E277K			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	225					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AGACCTAACTGAGCCTTACTT	0.388000													16	115					0	0	0.043863	0	0
NRCAM	4897	broad.mit.edu	37	7	107822288	107822288	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:107822288C>T	ENST00000379028.3	-	24	3094	c.2624G>A	c.(2623-2625)cGa>cAa	p.R875Q	NRCAM_ENST00000413765.2_Missense_Mutation_p.R856Q|NRCAM_ENST00000379022.4_Missense_Mutation_p.R875Q|NRCAM_ENST00000379024.4_Missense_Mutation_p.R856Q|NRCAM_ENST00000425651.2_Missense_Mutation_p.R875Q|NRCAM_ENST00000351718.4_Missense_Mutation_p.R859Q			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	875	Fibronectin type-III 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TAGGTGTCCTCGGATGCTTTT	0.527000													11	38					0	0	0.016723	0	0
BRWD3	254065	broad.mit.edu	37	X	79980560	79980560	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:79980560C>T	ENST00000373275.4	-	15	1609	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	465										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTTCATCATCATGTCCCTAT	0.373000													11	21					0	0	0.010729	0	0
SLC26A10	65012	broad.mit.edu	37	12	58019209	58019209	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:58019209G>A	ENST00000320442.4	+	13	1801	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	497	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					AGCCGATGTCGAGATGCTAGG	0.582000													8	36					0	0	0.047766	0	0
USP29	57663	broad.mit.edu	37	19	57641988	57641988	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:57641988G>A	ENST00000254181.4	+	4	2399	c.1945G>A	c.(1945-1947)Gac>Aac	p.D649N	USP29_ENST00000598197.1_Missense_Mutation_p.D649N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	649					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCAGTGGCTGACTCACTGAT	0.498000													6	51					0	0	0.029380	0	0
NPAS3	64067	broad.mit.edu	37	14	34145537	34145537	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:34145537G>A	ENST00000346562.2	+	5	657	c.583G>A	c.(583-585)Gag>Aag	p.E195K	NPAS3_ENST00000341321.4_Missense_Mutation_p.E227K|NPAS3_ENST00000356141.4_Missense_Mutation_p.E227K|NPAS3_ENST00000551008.1_Missense_Mutation_p.E125K|NPAS3_ENST00000548645.1_Missense_Mutation_p.E197K|NPAS3_ENST00000551492.1_Missense_Mutation_p.E232K|NPAS3_ENST00000357798.5_Missense_Mutation_p.E214K|NPAS3_ENST00000547068.1_Missense_Mutation_p.E123K	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	227	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GGGCACTGCTGAGGACGGAGC	0.617000													9	43					0	0	0.047766	0	0
TRIM14	9830	broad.mit.edu	37	9	100872212	100872212	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:100872212C>T	ENST00000341469.2	-	2	271	c.262G>A	c.(262-264)Gac>Aac	p.D88N	TRIM14_ENST00000375098.3_Missense_Mutation_p.D88N|TRIM14_ENST00000342043.3_Missense_Mutation_p.D88N	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	88						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GTTATGTTGTCAATGTGCTGC	0.448000													25	207					0	0	0.024334	0	0
TTC37	9652	broad.mit.edu	37	5	94849302	94849302	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:94849302G>C	ENST00000358746.2	-	27	3049	c.2751C>G	c.(2749-2751)ttC>ttG	p.F917L	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	917							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TAGTGTGCCTGAAGAGATCCA	0.338000													11	116					0	0	0.020292	0	0
ECE2	9718	broad.mit.edu	37	3	183996310	183996310	+	Silent	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:183996310C>A	ENST00000402825.3	+	7	1135	c.1135C>A	c.(1135-1137)Cgg>Agg	p.R379R	ECE2_ENST00000404464.3_Silent_p.R261R|ECE2_ENST00000357474.5_Silent_p.R307R|ECE2_ENST00000359140.4_Silent_p.R232R|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	379	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGCCCTCTCGGGATTACTA	0.552000													21	113					7.45023e-12	7.95329e-12	0.055883	1	0
ZNF33A	7581	broad.mit.edu	37	10	38344019	38344019	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:38344019G>A	ENST00000374618.3	+	5	1145	c.967G>A	c.(967-969)Gat>Aat	p.D323N	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Missense_Mutation_p.D322N|ZNF33A_ENST00000307441.9_Missense_Mutation_p.D322N|ZNF33A_ENST00000432900.2_Missense_Mutation_p.D329N	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	322						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TCAGAAAGGTGATAAAGGAGA	0.423000													14	85					0	0	0.024245	0	0
F13B	2165	broad.mit.edu	37	1	197031034	197031034	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:197031034G>C	ENST00000367412.1	-	3	374	c.331C>G	c.(331-333)Caa>Gaa	p.Q111E		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	111	Sushi 2.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATGTTCTCTTGAATTTTATAC	0.373000													6	35					0	0	0.038147	0	0
CNTN6	27255	broad.mit.edu	37	3	1367580	1367580	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:1367580G>T	ENST00000446702.2	+	9	1655	c.1028G>T	c.(1027-1029)gGa>gTa	p.G343V	CNTN6_ENST00000350110.2_Missense_Mutation_p.G343V|CNTN6_ENST00000539053.1_Missense_Mutation_p.G271V			Q9UQ52	CNTN6_HUMAN	contactin 6	343	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAGCTAGTGGAAAGCCAAAC	0.393000													6	53					0.0215528	0.0217824	0.021553	1	0
FRAS1	80144	broad.mit.edu	37	4	79461904	79461904	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:79461904G>A	ENST00000264895.6	+	74	12105	c.11665G>A	c.(11665-11667)Gag>Aag	p.E3889K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3884					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTGAATCTGGAGATGCAAGA	0.517000													4	22					0	0	0.009096	0	0
KCNH1	3756	broad.mit.edu	37	1	210856787	210856787	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:210856787C>T	ENST00000367007.4	-	11	2894	c.2725G>A	c.(2725-2727)Gac>Aac	p.D909N	KCNH1_ENST00000271751.4_Missense_Mutation_p.D936N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	936					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCCTTGATGTCCTCCTTCAGC	0.517000													12	50					0	0	0.013537	0	0
GRB7	2886	broad.mit.edu	37	17	37900456	37900456	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:37900456C>A	ENST00000309156.4	+	7	1054	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	GRB7_ENST00000445327.2_Missense_Mutation_p.S289Y|GRB7_ENST00000309185.3_Missense_Mutation_p.S266Y|GRB7_ENST00000394211.3_Missense_Mutation_p.S266Y|GRB7_ENST00000394204.1_Missense_Mutation_p.S266Y|GRB7_ENST00000394209.2_Missense_Mutation_p.S266Y	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	266	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGGGCACCTCTAAGGTAAGG	0.572000													17	186					5.03518e-11	5.34938e-11	0.043863	1	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				4	16					0	0	0.029380	0	0
NIN	51199	broad.mit.edu	37	14	51208379	51208379	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:51208379C>T	ENST00000245441.5	-	25	5559	c.5369G>A	c.(5368-5370)cGa>cAa	p.R1790Q	NIN_ENST00000389868.3_Missense_Mutation_p.R1077Q|NIN_ENST00000530997.2_Missense_Mutation_p.R1790Q|NIN_ENST00000382041.3_Missense_Mutation_p.R1790Q|NIN_ENST00000453196.1_Missense_Mutation_p.R1790Q|NIN_ENST00000382043.4_Missense_Mutation_p.R1077Q|NIN_ENST00000324330.9_Missense_Mutation_p.R1790Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1790					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTGAGTCACTCGTAGGTCAGA	0.393000			T	PDGFRB	MPD								28	144					0	0	0.034045	0	0
NPR2	4882	broad.mit.edu	37	9	35806507	35806507	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:35806507G>A	ENST00000342694.2	+	16	2746	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	831					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACGCAAGGCTGAAGCTCTGCT	0.517000													17	78					0	0	0.038395	0	0
SUV420H2	84787	broad.mit.edu	37	19	55857665	55857665	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:55857665G>A	ENST00000255613.3	+	7	903	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	219	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CTTCTACGGCGAGGGCTTCTT	0.622000													8	65					0	0	0.038147	0	0
ABLIM1	3983	broad.mit.edu	37	10	116213165	116213165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:116213165G>A	ENST00000369252.4	-	13	1640	c.1339C>T	c.(1339-1341)Cag>Tag	p.Q447*	ABLIM1_ENST00000392952.3_Intron|ABLIM1_ENST00000369253.2_Intron|ABLIM1_ENST00000277895.5_Nonsense_Mutation_p.Q507*|ABLIM1_ENST00000369266.3_Intron|ABLIM1_ENST00000533213.2_Nonsense_Mutation_p.Q447*	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	507					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTAGGGGCCTGAGCGTAAGTT	0.532000													6	54					0	0	0.038147	0	0
PSMB10	5699	broad.mit.edu	37	16	67970194	67970194	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:67970194C>A	ENST00000358514.4	-	3	503	c.166G>T	c.(166-168)Gat>Tat	p.D56Y		NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GCTCGCGTATCGGCGCCCAGA	0.632000													8	53					0.00307968	0.00313636	0.038147	1	0
KIAA0754	643314	broad.mit.edu	37	1	39876389	39876389	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:39876389C>T	ENST00000530275.1	+	1	239	c.44C>T	c.(43-45)tCt>tTt	p.S15F	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	15										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAGAAGCTTCTCTCAGTGAG	0.468000													6	115					0	0	0.021553	0	0
LAMC2	3918	broad.mit.edu	37	1	183209330	183209330	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:183209330G>C	ENST00000264144.4	+	21	3290	c.3225G>C	c.(3223-3225)caG>caC	p.Q1075H	LAMC2_ENST00000493293.1_Missense_Mutation_p.Q1075H|LAMC2_ENST00000461729.1_3'UTR	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1075	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						ATGCAGTACAGATGGTGAGTT	0.473000													22	81					0	0	0.016522	0	0
TRPM6	140803	broad.mit.edu	37	9	77354768	77354768	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:77354768G>A	ENST00000451710.3	-	33	5607	c.5370C>T	c.(5368-5370)gtC>gtT	p.V1790V	TRPM6_ENST00000376872.3_Silent_p.V741V|TRPM6_ENST00000360774.1_Silent_p.V1786V|TRPM6_ENST00000449912.2_Silent_p.V1781V|TRPM6_ENST00000376864.4_Silent_p.V1790V|TRPM6_ENST00000376871.3_Silent_p.V623V|TRPM6_ENST00000361255.3_Silent_p.V1781V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1786	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACCAAGTGCTGACGACTCTCA	0.512000													20	109					0	0	0.012319	0	0
TRPV4	59341	broad.mit.edu	37	12	110252302	110252302	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:110252302C>T	ENST00000418703.2	-	1	394	c.300G>A	c.(298-300)aaG>aaA	p.K100K	TRPV4_ENST00000537083.1_Silent_p.K100K|TRPV4_ENST00000392719.2_Silent_p.K100K|TRPV4_ENST00000536838.1_Silent_p.K66K|TRPV4_ENST00000544971.1_Silent_p.K100K|TRPV4_ENST00000346520.2_Silent_p.K100K|TRPV4_ENST00000261740.2_Silent_p.K100K|TRPV4_ENST00000541794.1_Silent_p.K100K	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	100					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGGGTGCTTTCTTGGGCCCAG	0.552000													8	40					0	0	0.038147	0	0
THSD4	79875	broad.mit.edu	37	15	71535293	71535293	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:71535293C>T	ENST00000355327.3	+	5	904	c.770C>T	c.(769-771)tCa>tTa	p.S257L	THSD4_ENST00000261862.6_Missense_Mutation_p.S257L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	257	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTGCAGCTTCAAGTCTCTTT	0.562000													17	64					0	0	0.033300	0	0
HEMK1	51409	broad.mit.edu	37	3	50608743	50608743	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:50608743C>T	ENST00000232854.4	+	2	760	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	HEMK1_ENST00000434410.1_Missense_Mutation_p.H70Y|HEMK1_ENST00000455834.1_Missense_Mutation_p.H70Y	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	70					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CATCGTGGCTCATGTCCTTGG	0.522000													5	39					0	0	0.014758	0	0
AOX1	316	broad.mit.edu	37	2	201515837	201515837	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:201515837C>T	ENST00000374700.2	+	26	3229	c.2988C>T	c.(2986-2988)ttC>ttT	p.F996F	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	996					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGAAAAGTTCAATGCAGAGA	0.473000													14	142					0	0	0.028581	0	0
KCNC2	3747	broad.mit.edu	37	12	75437009	75437009	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:75437009G>A	ENST00000549446.1	-	5	2473	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000548513.1_Intron|KCNC2_ENST00000550433.1_Intron|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000540018.1_Missense_Mutation_p.S543F	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	598					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TAAGCTTCGGGATTTTTCATA	0.433000													5	42					0	0	0.014758	0	0
TNXB	7148	broad.mit.edu	37	6	32050002	32050002	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:32050002C>T	ENST00000375244.3	-	9	3748	c.3547G>A	c.(3547-3549)Gag>Aag	p.E1183K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1183K			P22105	TENX_HUMAN	tenascin XB	1270	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AACTGGCCCTCAGGGACAGTC	0.602000													5	47					0	0	0.014758	0	0
CNTN5	53942	broad.mit.edu	37	11	100061931	100061931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:100061931C>T	ENST00000524871.1	+	14	1944	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Nonsense_Mutation_p.R552*|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.R478*|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.R552*|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.R552*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	552	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GTACGTTTGCCGAGGGGAAAA	0.393000													10	36					0	0	0.008291	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34839420	34839420	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:34839420G>A	ENST00000192788.5	+	19	4212	c.4041G>A	c.(4039-4041)atG>atA	p.M1347I	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.M1347I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1347										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTCTGGCCATGGAACATGTTG	0.522000													10	53					0	0	0.008291	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98392752	98392752	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:98392752C>T	ENST00000371109.3	-	1	246	c.65G>A	c.(64-66)aGa>aAa	p.R22K	PIK3AP1_ENST00000371110.2_Intron|PIK3AP1_ENST00000339364.5_Intron|PIK3AP1_ENST00000468783.1_Intron			Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	0						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		gtccttgcatctgatcagcaa	0.498000													5	28					0	0	0.014758	0	0
GBP1P1	400759	broad.mit.edu	37	1	89885842	89885842	+	RNA	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:89885842C>T	ENST00000513638.1	+	0	382					NR_003133.2																						CATCCTAGTTCTGCTGGACAC	0.507000													18	108					0	0	0.043863	0	0
HLA-B	3106	broad.mit.edu	37	6	31324665	31324665	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:31324665G>T	ENST00000412585.2	-	2	171	c.143C>A	c.(142-144)tCa>tAa	p.S48*		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GTAGCCCACTGAGATGAAGCG	0.697000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				8	24					5.18039e-06	5.38307e-06	0.038147	1	0
LIPE	3991	broad.mit.edu	37	19	42907160	42907160	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:42907160C>T	ENST00000244289.4	-	9	2842	c.2566G>A	c.(2566-2568)Gaa>Aaa	p.E856K	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	856					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGTGCTGCTTCAGACACACTG	0.617000													6	52					0	0	0.038147	0	0
GPR114	221188	broad.mit.edu	37	16	57598964	57598964	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:57598964C>G	ENST00000340339.4	+	6	971	c.448C>G	c.(448-450)Ctg>Gtg	p.L150V	GPR114_ENST00000349457.3_Missense_Mutation_p.L150V|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CAACTCATCTCTGCTGAATAA	0.567000													9	72					0	0	0.008291	0	0
DSP	1832	broad.mit.edu	37	6	7566622	7566622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:7566622C>T	ENST00000379802.3	+	8	1293	c.952C>T	c.(952-954)Caa>Taa	p.Q318*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q318*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	318	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACGCATGAGTCAACTGGAAGT	0.373000													9	63					0	0	0.008291	0	0
GABRA3	2556	broad.mit.edu	37	X	151366158	151366158	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:151366158G>C	ENST00000370314.4	-	8	1116	c.878C>G	c.(877-879)tCa>tGa	p.S293*	GABRA3_ENST00000535043.1_Nonsense_Mutation_p.S293*|GABRA3_ENST00000370311.1_Nonsense_Mutation_p.S293*	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	293					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGACACTTGTGACAGAATGAC	0.453000													12	34					0	0	0.013537	0	0
HTRA4	203100	broad.mit.edu	37	8	38840029	38840029	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:38840029C>T	ENST00000302495.4	+	7	1227	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	376					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AAGGCGTTTTCAAATAAGAAA	0.423000													6	56					0	0	0.029380	0	0
KIF4B	285643	broad.mit.edu	37	5	154393878	154393878	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:154393878C>A	ENST00000435029.4	+	1	619	c.459C>A	c.(457-459)tgC>tgA	p.C153*		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	153	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCTTCTATGCCCATCTCGTG	0.358000													22	145					1.9806e-07	2.08749e-07	0.014323	1	0
RPF1	80135	broad.mit.edu	37	1	84948646	84948646	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:84948646G>A	ENST00000370654.5	+	3	349	c.334G>A	c.(334-336)Gat>Aat	p.D112N	RPF1_ENST00000370656.1_Missense_Mutation_p.D112N	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	112					rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						GCGAGTGTATGATGAAACCAC	0.318000													6	32					0	0	0.029380	0	0
ZNF808	388558	broad.mit.edu	37	19	53058569	53058569	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:53058569C>T	ENST00000359798.4	+	5	2580	c.2400C>T	c.(2398-2400)ttC>ttT	p.F800F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	800					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACAAGGCTTTCGTGCGTAATT	0.408000													24	190					0	0	0.018920	0	0
ZNF217	7764	broad.mit.edu	37	20	52199332	52199332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:52199332G>A	ENST00000371471.2	-	2	459	c.34C>T	c.(34-36)Caa>Taa	p.Q12*	ZNF217_ENST00000302342.3_Nonsense_Mutation_p.Q12*			O75362	ZN217_HUMAN	zinc finger protein 217	12					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AAGAGGGATTGAGTTGGCATG	0.468000													15	97					0	0	0.033300	0	0
G6PC3	92579	broad.mit.edu	37	17	42153206	42153206	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:42153206G>A	ENST00000269097.4	+	6	1067	c.836G>A	c.(835-837)gGa>gAa	p.G279E		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	279					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCACAGCTGGGAAATGGCCAG	0.652000													12	52					0	0	0.013537	0	0
GTF3C1	2975	broad.mit.edu	37	16	27495572	27495572	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:27495572G>A	ENST00000356183.4	-	25	3976	c.3961C>T	c.(3961-3963)Cgc>Tgc	p.R1321C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1321C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1321						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTATGTAGCGAGCTCTTCGT	0.488000													25	54					0	0	0.027356	0	0
TSR3	115939	broad.mit.edu	37	16	1399524	1399524	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:1399524C>T	ENST00000007390.2	-	6	959	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		TGCTCCTCTTCACAGCAGCTG	0.652000													36	214					0	0	0.019004	0	0
TLK2	11011	broad.mit.edu	37	17	60598187	60598187	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:60598187G>C	ENST00000326270.9	+	3	403	c.135G>C	c.(133-135)ttG>ttC	p.L45F	TLK2_ENST00000542523.1_Missense_Mutation_p.L45F|TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000343388.7_Missense_Mutation_p.L45F|TLK2_ENST00000346027.5_Missense_Mutation_p.L45F			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	45					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TCGGATCCTTGAGTGATAAAG	0.408000													12	79					0	0	0.024245	0	0
ZNF768	79724	broad.mit.edu	37	16	30537313	30537313	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:30537313C>T	ENST00000380412.5	-	2	323	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	ZNF747_ENST00000569360.1_3'UTR|ZNF768_ENST00000562803.1_Missense_Mutation_p.E19K|ZNF747_ENST00000535210.1_3'UTR	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	50					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCTTCgacttcatagtcccca	0.507000													23	162					0	0	0.016522	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204197211	204197211	+	Splice_Site	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:204197211C>T	ENST00000272203.3	-	21	3347	c.3031_splice	c.e21+1	p.V1011_splice	PLEKHA6_ENST00000414478.1_Splice_Site_p.V1031_splice	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	1011										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCCCTCTCACCAGACAGCATG	0.647000													7	28					0	0	0.038147	0	0
CDKN3	1033	broad.mit.edu	37	14	54875501	54875501	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:54875501G>C	ENST00000541304.1	+	4	227	c.187G>C	c.(187-189)Gat>Cat	p.D63H	CDKN3_ENST00000458126.2_Missense_Mutation_p.D63H|CDKN3_ENST00000556102.2_Missense_Mutation_p.D63H|CDKN3_ENST00000395577.2_Missense_Mutation_p.D17H|CDKN3_ENST00000335183.6_Missense_Mutation_p.D63H|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000442975.2_Missense_Mutation_p.D23H|CDKN3_ENST00000543789.2_Missense_Mutation_p.D63H			Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3	63					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(2)|stomach(1)	3						TGTCCAAAAAGATACAGGTAG	0.279000													15	92					0	0	0.033300	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349317	30349317	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:30349317G>A	ENST00000327564.7	+	1	1294	c.1233G>A	c.(1231-1233)ctG>ctA	p.L411L	LRRC37B_ENST00000584368.1_Silent_p.L396L|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000394713.3_Silent_p.L384L|LRRC37B_ENST00000341671.7_Silent_p.L384L|LRRC37B_ENST00000543378.2_Silent_p.L302L			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	384						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTACAGCCCTGAGGACTACAG	0.542000													32	193					0	0	0.045705	0	0
NUTM1	256646	broad.mit.edu	37	15	34648777	34648777	+	Silent	SNP	C	C	T	rs137916466		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:34648777C>T	ENST00000537011.1	+	8	2950	c.2568C>T	c.(2566-2568)acC>acT	p.T856T	NUTM1_ENST00000438749.3_Silent_p.T846T|NUTM1_ENST00000333756.4_Silent_p.T828T					NUT midline carcinoma, family member 1																		GCTGTGAAACCGTAGGGCATC	0.507000													11	60					0	0	0.016723	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110497290	110497290	+	Silent	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:110497290G>C	ENST00000378402.5	+	58	9698	c.9594G>C	c.(9592-9594)gtG>gtC	p.V3198V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3198					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAGAGATTGTGATAACAACCA	0.294000										HNSCC(38;0.096)			9	48					0	0	0.047766	0	0
ARSE	415	broad.mit.edu	37	X	2878422	2878422	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:2878422G>A	ENST00000540563.1	-	2	136	c.47C>T	c.(46-48)tCt>tTt	p.S16F	ARSE_ENST00000381134.3_Missense_Mutation_p.S7F|ARSE_ENST00000496095.1_5'UTR|ARSE_ENST00000545496.1_5'UTR			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	0					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCTTACCAAGAATGGTGCAG	0.333000													11	21					0	0	0.016723	0	0
DNAJB13	374407	broad.mit.edu	37	11	73675980	73675980	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:73675980G>C	ENST00000339764.1	+	4	1143	c.392G>C	c.(391-393)cGa>cCa	p.R131P	RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000537753.1_5'UTR|RP11-167N4.2_ENST00000540886.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	131					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CTCCAGGGCCGAGGGGTCAAG	0.498000											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	61					0	0	0.047766	0	0
LOXL2	4017	broad.mit.edu	37	8	23167319	23167319	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:23167319G>A	ENST00000389131.3	-	10	2111	c.1742C>T	c.(1741-1743)tCg>tTg	p.S581L		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	581	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGCTGAGGCCGAGAGGCAGTT	0.647000													5	25					0	0	0.029380	0	0
NUP50	10762	broad.mit.edu	37	22	45571788	45571788	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:45571788G>T	ENST00000347635.3	+	4	633	c.167G>T	c.(166-168)gGa>gTa	p.G56V	NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Missense_Mutation_p.G28V|NUP50_ENST00000407019.2_Missense_Mutation_p.G28V|NUP50_ENST00000425733.2_Intron	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	56	Gly-rich.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GACACTGGAGGAGCCTTTAAA	0.463000													15	95					0.000422831	0.000435963	0.028581	1	0
C6orf47	57827	broad.mit.edu	37	6	31627496	31627496	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:31627496C>T	ENST00000375911.1	-	1	1053	c.229G>A	c.(229-231)Gag>Aag	p.E77K	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	77										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						ACTTGGGGCTCCTCCTTGCTT	0.562000													4	48					0	0	0.009096	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463692	25463692	+	RNA	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:25463692C>G	ENST00000424208.1	+	0	2975				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						GCCCTGATCTCCTGCACTGAG	0.582000													21	109					0	0	0.055883	0	0
ATAD5	79915	broad.mit.edu	37	17	29162131	29162131	+	Silent	SNP	G	G	A	rs111343309	by1000genomes	TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29162131G>A	ENST00000321990.4	+	2	1410	c.1032G>A	c.(1030-1032)ttG>ttA	p.L344L	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	344					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAATTTTCTTGAAACAAAAGC	0.378000													9	42					0	0	0.047766	0	0
C10orf111	221060	broad.mit.edu	37	10	15138708	15138708	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:15138708C>T	ENST00000378207.3	-	2	389	c.116G>A	c.(115-117)aGa>aAa	p.R39K		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	39						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						TACTGCCTTTCTCTTTTCGGG	0.498000													33	112					0	0	0.045705	0	0
APOD	347	broad.mit.edu	37	3	195306307	195306307	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:195306307G>A	ENST00000343267.3	-	2	387	c.26C>T	c.(25-27)tCc>tTc	p.S9F		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	9					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AGCCAGTGCGGAAAGCAGCAG	0.577000													6	55					0	0	0.021553	0	0
MGAM	8972	broad.mit.edu	37	7	141765603	141765603	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:141765603C>G	ENST00000475668.2	+	40	4796	c.4742C>G	c.(4741-4743)tCa>tGa	p.S1581*	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1581	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)	TACCCCTTCTCAAGAAACCAC	0.478000													10	20					0	0	0.006214	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800988	185800988	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:185800988G>C	ENST00000302277.6	+	4	1459	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	289						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGAGACAAAGAAACTGTTCA	0.363000													9	52					0	0	0.047766	0	0
ZAN	7455	broad.mit.edu	37	7	100344231	100344231	+	RNA	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:100344231G>A	ENST00000542585.1	+	0	985				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGAGCCCCGTGAGCCTGTCCT	0.572000													9	95					0	0	0.047766	0	0
PRF1	5551	broad.mit.edu	37	10	72358020	72358020	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:72358020T>A	ENST00000441259.1	-	3	1617	c.1457A>T	c.(1456-1458)gAc>gTc	p.D486V	PRF1_ENST00000373209.2_Missense_Mutation_p.D486V	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	486	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCTGCCAGAGTCCTGATCCCA	0.572000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				21	72					0	0	0.055883	0	0
RNF113A	7737	broad.mit.edu	37	X	119005303	119005303	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:119005303C>T	ENST00000371442.2	-	1	488	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	92	Poly-Glu.						nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTCTCGGGCTCATTTTCCTCT	0.547000													11	145					0	0	0.010729	0	0
CUX1	1523	broad.mit.edu	37	7	101844841	101844841	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:101844841C>G	ENST00000360264.3	+	18	2317	c.2297C>G	c.(2296-2298)tCc>tGc	p.S766C	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.S597C|CUX1_ENST00000550008.2_Missense_Mutation_p.S699C|CUX1_ENST00000549414.2_Missense_Mutation_p.S733C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.S653C|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.S755C|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	755					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCCACCGTGTCCAGCTACCCA	0.647000													21	110					0	0	0.018920	0	0
PAQR6	79957	broad.mit.edu	37	1	156213794	156213794	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:156213794C>T	ENST00000335852.1	-	7	1529	c.914G>A	c.(913-915)aGa>aAa	p.R305K	PAQR6_ENST00000356983.2_Missense_Mutation_p.R305K|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000360733.2_Missense_Mutation_p.R305K|PAQR6_ENST00000292291.5_3'UTR|PAQR6_ENST00000540423.1_3'UTR	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	0						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CCTGTGCCCTCTCTCCTCAGC	0.627000													23	166					0	0	0.014323	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124783248	124783248	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:124783248G>A	ENST00000431078.1	+	1	385	c.21G>A	c.(19-21)ctG>ctA	p.L7L	CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	7					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACCACGGCTGACCAGCGTTT	0.547000													8	71					0	0	0.047766	0	0
BRWD3	254065	broad.mit.edu	37	X	79989634	79989634	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:79989634C>T	ENST00000373275.4	-	11	1285	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	357										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GACTCTAATTCAGCAATTTTC	0.338000													20	46					0	0	0.018920	0	0
CMPK1	51727	broad.mit.edu	37	1	47840885	47840885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:47840885C>T	ENST00000371873.5	+	5	714	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	CMPK1_ENST00000450808.2_Nonsense_Mutation_p.Q140*	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	157					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	GACCTACCTTCAGTCAACAAA	0.368000													24	140					0	0	0.027356	0	0
ETV6	2120	broad.mit.edu	37	12	12043951	12043951	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:12043951G>A	ENST00000396373.4	+	8	1604	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	444						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GGAGCTGGATGAACAAATATA	0.527000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								31	145					0	0	0.041601	0	0
COLGALT1	79709	broad.mit.edu	37	19	17691701	17691701	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:17691701G>A	ENST00000252599.4	+	11	1708	c.1588G>A	c.(1588-1590)Gac>Aac	p.D530N		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		CGTCATGTTCGACAAACACCC	0.632000													6	35					0	0	0.021553	0	0
OR13J1	392309	broad.mit.edu	37	9	35870019	35870019	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:35870019C>A	ENST00000377981.2	-	1	442	c.380G>T	c.(379-381)tGc>tTc	p.C127F		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GAGTGGCTGGCAGATGGCCAG	0.617000													10	42					7.48243e-07	7.82415e-07	0.006214	1	0
WBP2NL	164684	broad.mit.edu	37	22	42423140	42423140	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:42423140C>T	ENST00000328823.9	+	6	916	c.885C>T	c.(883-885)aaC>aaT	p.N295N	WBP2NL_ENST00000543212.1_Silent_p.N221N	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	295					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CTCCTGAAAACGAGGCTTCTC	0.527000													19	83					0	0	0.055883	0	0
DDX6	1656	broad.mit.edu	37	11	118633977	118633977	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:118633977G>T	ENST00000264018.4	-	7	990	c.685C>A	c.(685-687)Ctt>Att	p.L229I	DDX6_ENST00000534980.1_Missense_Mutation_p.L229I|DDX6_ENST00000526070.2_Missense_Mutation_p.L229I	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	229	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TTCTTAATAAGATCCAGGATT	0.368000			T	IGH@	B-NHL								17	121					1.67942e-08	1.77286e-08	0.038395	1	0
PTCH1	5727	broad.mit.edu	37	9	98242295	98242295	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:98242295C>G	ENST00000430669.2	-	7	1410	c.825G>C	c.(823-825)ttG>ttC	p.L275F	PTCH1_ENST00000437951.1_Missense_Mutation_p.L275F|PTCH1_ENST00000331920.6_Missense_Mutation_p.L341F|PTCH1_ENST00000429896.2_Missense_Mutation_p.L190F|PTCH1_ENST00000375274.2_Missense_Mutation_p.L340F|PTCH1_ENST00000421141.1_Missense_Mutation_p.L190F|PTCH1_ENST00000418258.1_Missense_Mutation_p.L190F			Q13635	PTC1_HUMAN	patched 1	341					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.L341F(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACCCACAATCAACTCCTCCT	0.458000													30	110					0	0	0.050027	0	0
S100A4	6275	broad.mit.edu	37	1	153516400	153516400	+	Splice_Site	SNP	C	C	T	rs15262		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:153516400C>T	ENST00000368716.4	-	3	289		c.e3-1		S100A4_ENST00000368714.1_Splice_Site|S100A4_ENST00000368715.1_Splice_Site|S100A4_ENST00000481009.1_Splice_Site|S100A4_ENST00000354332.4_Splice_Site	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4						epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTCCTTTTCTGGAGGGAGA	0.527000													31	114					0	0	0.041601	0	0
DDX3X	1654	broad.mit.edu	37	X	41206168	41206168	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:41206168G>C	ENST00000399959.2	+	15	2527	c.1672G>C	c.(1672-1674)Gat>Cat	p.D558H	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.D542H|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	558	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GGATTTGTTGGATCTTCTTGT	0.393000										HNSCC(61;0.18)			15	24					0	0	0.028581	0	0
CUX2	23316	broad.mit.edu	37	12	111776184	111776184	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:111776184G>A	ENST00000261726.6	+	20	3445	c.3291G>A	c.(3289-3291)ctG>ctA	p.L1097L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1097						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGCTGAGCCTGAAGGGGCGGG	0.592000													13	49					0	0	0.013537	0	0
COLEC10	10584	broad.mit.edu	37	8	120118062	120118062	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:120118062G>A	ENST00000332843.2	+	6	507	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	156	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TAGGGAAACTGAAGAGAAATT	0.428000													4	26					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179497313	179497313	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:179497313C>T	ENST00000589042.1	-	235	43644	c.43420G>A	c.(43420-43422)Gaa>Aaa	p.E14474K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12833K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5409K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11906K|TTN_ENST00000342175.6_Missense_Mutation_p.E5601K|TTN_ENST00000359218.5_Missense_Mutation_p.E5534K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12833	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTTGCTTCATCTTCAAAA	0.373000													30	144					0	0	0.034045	0	0
SCN5A	6331	broad.mit.edu	37	3	38645426	38645426	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:38645426C>T	ENST00000413689.1	-	12	1860	c.1667G>A	c.(1666-1668)aGc>aAc	p.S556N	SCN5A_ENST00000333535.4_Missense_Mutation_p.S556N|SCN5A_ENST00000443581.1_Missense_Mutation_p.S556N|SCN5A_ENST00000451551.2_Missense_Mutation_p.S556N|SCN5A_ENST00000423572.2_Missense_Mutation_p.S556N|SCN5A_ENST00000425664.1_Missense_Mutation_p.S556N|SCN5A_ENST00000450102.2_Missense_Mutation_p.S556N|SCN5A_ENST00000414099.2_Missense_Mutation_p.S556N|SCN5A_ENST00000449557.2_Missense_Mutation_p.S556N|SCN5A_ENST00000455624.2_Missense_Mutation_p.S556N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	556					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTGTGGTGGCTCTCGCTCTC	0.642000													7	41					0	0	0.038147	0	0
PCK1	5105	broad.mit.edu	37	20	56139406	56139406	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:56139406C>T	ENST00000319441.4	+	7	1307	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	PCK1_ENST00000535860.1_Silent_p.V249V|PCK1_ENST00000543666.1_Silent_p.V64V	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	381					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTTCAGGTGTCACCATCACGT	0.567000													7	59					0	0	0.038147	0	0
ZNF655	79027	broad.mit.edu	37	7	99159525	99159525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:99159525C>T	ENST00000425063.1	+	3	253	c.151C>T	c.(151-153)Cag>Tag	p.Q51*	ZNF655_ENST00000357864.2_Intron|ZNF655_ENST00000440391.1_Intron|ZNF655_ENST00000252713.4_Intron|ZNF655_ENST00000320583.5_Nonsense_Mutation_p.Q51*|ZNF655_ENST00000449244.1_Nonsense_Mutation_p.Q51*|ZNF655_ENST00000493277.1_Intron|ZNF655_ENST00000454654.1_Nonsense_Mutation_p.Q51*|ZNF655_ENST00000394163.2_Intron|ZNF655_ENST00000424881.1_Intron			Q8N720	ZN655_HUMAN	zinc finger protein 655	3					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ACCTGTTCCTCAGGTGCCTGC	0.612000													7	10					0	0	0.047766	0	0
CCDC181	57821	broad.mit.edu	37	1	169390719	169390719	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:169390719G>C	ENST00000545005.1	-	4	1457	c.950C>G	c.(949-951)tCt>tGt	p.S317C	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.S317C|CCDC181_ENST00000367805.3_Missense_Mutation_p.S317C					coiled-coil domain containing 181																		CCTGTGATTAGATTTCCCATT	0.458000													21	97					0	0	0.055883	0	0
C15orf27	123591	broad.mit.edu	37	15	76496280	76496280	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:76496280C>T	ENST00000388942.3	+	11	1496	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	407						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						ACGCTGGGCTCCTCCATGGAC	0.697000													9	30					0	0	0.006214	0	0
CDH10	1008	broad.mit.edu	37	5	24537725	24537725	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:24537725C>A	ENST00000264463.4	-	3	797	c.290G>T	c.(289-291)gGa>gTa	p.G97V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	97	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTACCAGCTCCATCTCCAGA	0.363000										HNSCC(23;0.051)			9	58					7.48243e-07	7.82415e-07	0.006214	1	0
NUDCD1	84955	broad.mit.edu	37	8	110293297	110293297	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:110293297G>A	ENST00000239690.4	-	6	1302	c.928C>T	c.(928-930)Cac>Tac	p.H310Y	NUDCD1_ENST00000427660.2_Missense_Mutation_p.H281Y	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	310	CS.									breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATGTTGATGTGATCAGGCAAA	0.363000													10	45					0	0	0.008291	0	0
CSF1	1435	broad.mit.edu	37	1	110466425	110466425	+	Silent	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:110466425C>G	ENST00000329608.6	+	6	1573	c.1182C>G	c.(1180-1182)ctC>ctG	p.L394L	CSF1_ENST00000369802.3_Silent_p.L394L|CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	394					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGCCCTGCTCAGAGACCCCC	0.642000													9	39					0	0	0.047766	0	0
HELZ	9931	broad.mit.edu	37	17	65147302	65147302	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:65147302G>A	ENST00000358691.5	-	18	2382	c.2216C>T	c.(2215-2217)cCa>cTa	p.P739L	HELZ_ENST00000580168.1_Missense_Mutation_p.P740L	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATGCACAACTGGGTGGACAGT	0.373000													21	87					0	0	0.055883	0	0
ANK3	288	broad.mit.edu	37	10	61840377	61840377	+	Splice_Site	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:61840377C>T	ENST00000280772.1	-	36	4542		c.e36-1		ANK3_ENST00000503366.1_Splice_Site|ANK3_ENST00000355288.2_Splice_Site|ANK3_ENST00000373827.2_Splice_Site	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTCTCAATCTGAAAAGGAA	0.378000													6	37					0	0	0.021553	0	0
FAT2	2196	broad.mit.edu	37	5	150897219	150897219	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:150897219G>A	ENST00000261800.5	-	19	11437	c.11425C>T	c.(11425-11427)Ctt>Ttt	p.L3809F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3809	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGAATAGAAGAATGGCCTGT	0.552000													10	65					0	0	0.013537	0	0
SRSF6	6431	broad.mit.edu	37	20	42089355	42089355	+	Silent	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:42089355G>C	ENST00000244020.3	+	6	793	c.687G>C	c.(685-687)cgG>cgC	p.R229R		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	229	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CCAGGTCGCGGAGCAAAGGTC	0.438000													7	36					0	0	0.029380	0	0
GRHL1	29841	broad.mit.edu	37	2	10136520	10136520	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:10136520G>C	ENST00000324907.9	+	14	1804	c.1668G>C	c.(1666-1668)ttG>ttC	p.L556F	GRHL1_ENST00000480736.1_Missense_Mutation_p.L10F|GRHL1_ENST00000405379.2_Missense_Mutation_p.L556F|GRHL1_ENST00000324883.5_Missense_Mutation_p.L367F	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	556					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TGAAGGGCTTGATGGAAGCTG	0.413000													20	82					0	0	0.012319	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827592	43827592	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:43827592G>A	ENST00000420765.1	-	31	3764	c.3582C>T	c.(3580-3582)ttC>ttT	p.F1194F	PPIP5K1_ENST00000396923.3_Silent_p.F1194F|PPIP5K1_ENST00000381879.4_Silent_p.F1170F|PPIP5K1_ENST00000381885.1_Silent_p.F1190F|PPIP5K1_ENST00000360301.4_Silent_p.F1169F|PPIP5K1_ENST00000360135.4_Silent_p.F1167F|PPIP5K1_ENST00000348806.6_Silent_p.F1167F|PPIP5K1_ENST00000334933.4_Silent_p.F1169F	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1194					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GTTGATCACTGAAGCCAAATT	0.522000													16	85					0	0	0.028581	0	0
DNAJC22	79962	broad.mit.edu	37	12	49742881	49742881	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:49742881C>G	ENST00000549441.2	+	3	1430	c.226C>G	c.(226-228)Ctg>Gtg	p.L76V	DNAJC22_ENST00000395069.3_Missense_Mutation_p.L76V			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GACACCCCCTCTGAGTCCCAT	0.557000													18	123					0	0	0.049695	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943615	9943615	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:9943615G>C	ENST00000396573.2	-	6	1635	c.1326C>G	c.(1324-1326)atC>atG	p.I442M	GRIN2A_ENST00000404927.2_Missense_Mutation_p.I442M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.I442M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.I285M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.I442M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.I442M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	442					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACTCACTTGATTTTGACGA	0.493000													13	59					0	0	0.020292	0	0
ROCK2	9475	broad.mit.edu	37	2	11361348	11361348	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:11361348C>G	ENST00000315872.6	-	9	1683	c.1235G>C	c.(1234-1236)gGa>gCa	p.G412A	ROCK2_ENST00000401753.1_Missense_Mutation_p.G169A	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	412	AGC-kinase C-terminal.|Interaction with NPM1.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTAGGTAAATCCGATGAAAGG	0.323000													24	123					0	0	0.024334	0	0
VAV2	7410	broad.mit.edu	37	9	136629201	136629201	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:136629201C>T	ENST00000371851.1	-	28	2915	c.2590G>A	c.(2590-2592)Gag>Aag	p.E864K	VAV2_ENST00000371850.3_Missense_Mutation_p.E874K|VAV2_ENST00000406606.3_Missense_Mutation_p.E835K			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	874	SH3 2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ATGCCCTCCTCTTCTACGTAC	0.498000													5	42					0	0	0.021553	0	0
ZNF554	115196	broad.mit.edu	37	19	2834551	2834551	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:2834551G>A	ENST00000317243.5	+	5	1516	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAATGCAGTGAATGTGGAAA	0.522000													8	40					0	0	0.047766	0	0
COL24A1	255631	broad.mit.edu	37	1	86313410	86313410	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:86313410C>G	ENST00000370571.2	-	39	3766	c.3400G>C	c.(3400-3402)Ggt>Cgt	p.G1134R	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1134R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1134	Collagen-like 11.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCAGGAGGACCTCTGCTTCCA	0.418000													15	121					0	0	0.043863	0	0
THAP11	57215	broad.mit.edu	37	16	67876995	67876995	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:67876995C>G	ENST00000303596.1	+	1	783	c.538C>G	c.(538-540)Ccc>Gcc	p.P180A	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GCCCATCACTCCCACTGGAGA	0.647000													19	132					0	0	0.043863	0	0
HOXB8	3218	broad.mit.edu	37	17	46690757	46690757	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:46690757G>C	ENST00000239144.4	-	2	773	c.539C>G	c.(538-540)tCg>tGg	p.S180W	HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.S179W	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	180						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CAGGGCGTGCGATACCTCGAT	0.532000													11	93					0	0	0.020292	0	0
GABRB1	2560	broad.mit.edu	37	4	47427752	47427752	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:47427752C>T	ENST00000295454.3	+	9	1434	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	GABRB1_ENST00000538619.1_Missense_Mutation_p.S311L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	381					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			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)	ACGAGTGGCTCGGAAGTGCTC	0.597000													10	59					0	0	0.013537	0	0
ATAD5	79915	broad.mit.edu	37	17	29162272	29162272	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29162272G>A	ENST00000321990.4	+	2	1551	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	391					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTGAAGCTGTGAAACCAAAAT	0.363000													15	72					0	0	0.028581	0	0
THAP11	57215	broad.mit.edu	37	16	67877127	67877127	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:67877127C>T	ENST00000303596.1	+	1	915	c.670C>T	c.(670-672)Cct>Tct	p.P224S	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TGCCGAGTGCCCTATGGGCCC	0.657000													7	68					0	0	0.047766	0	0
OR4F6	390648	broad.mit.edu	37	15	102346152	102346152	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:102346152C>T	ENST00000328882.4	+	1	251	c.230C>T	c.(229-231)aCa>aTa	p.T77I		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGTTCCTCCACAGCTCCCAAG	0.463000													49	253					0	0	0.048971	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363659	21363659	+	RNA	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:21363659G>C	ENST00000452284.1	+	0	1326				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						GCCGCTTCATGAGCAGAGACA	0.587000													6	37					0	0	0.021553	0	0
MACF1	23499	broad.mit.edu	37	1	39750825	39750825	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:39750825G>A	ENST00000564288.1	+	12	1979	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	MACF1_ENST00000545844.1_Missense_Mutation_p.G406E|MACF1_ENST00000361689.2_Missense_Mutation_p.G406E|MACF1_ENST00000567887.1_Missense_Mutation_p.G438E|MACF1_ENST00000372915.3_Missense_Mutation_p.G406E|MACF1_ENST00000317713.7_Missense_Mutation_p.G406E|MACF1_ENST00000539005.1_Missense_Mutation_p.G406E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	406					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGAGTGGGGAAAGCTCATC	0.458000													14	68					0	0	0.024245	0	0
GOLGA3	2802	broad.mit.edu	37	12	133358996	133358996	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:133358996C>T	ENST00000204726.3	-	17	3909	c.3351G>A	c.(3349-3351)gaG>gaA	p.E1117E	GOLGA3_ENST00000456883.2_Silent_p.E1117E|GOLGA3_ENST00000450791.2_Silent_p.E1117E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1117					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			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)		GCTTCCCTTTCTCGTGCTCTA	0.493000													33	157					0	0	0.054565	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150634351	150634351	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:150634351C>T	ENST00000271732.3	-	4	413	c.369G>A	c.(367-369)ctG>ctA	p.L123L	GOLPH3L_ENST00000540514.1_Silent_p.L79L	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	123						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGATGTGTTTCAGAGTTTCAT	0.388000													17	95					0	0	0.049695	0	0
BTK	695	broad.mit.edu	37	X	100604914	100604914	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:100604914G>A	ENST00000308731.7	-	19	2102	c.1939C>T	c.(1939-1941)Ctt>Ttt	p.L647F	BTK_ENST00000372880.1_Missense_Mutation_p.L471F	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	647	Protein kinase.		L -> P (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGCTCAGAAGAATTTTGAAA	0.393000									Agammaglobulinemia, X-linked				32	80					0	0	0.017118	0	0
LINS	55180	broad.mit.edu	37	15	101109585	101109585	+	Missense_Mutation	SNP	C	C	T	rs148450316		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:101109585C>T	ENST00000314742.8	-	7	2354	c.2132G>A	c.(2131-2133)aGa>aAa	p.R711K		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	711										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTTTACTATTCTGTAAAATAT	0.383000													24	124					0	0	0.021523	0	0
FBXO17	115290	broad.mit.edu	37	19	39437135	39437135	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:39437135C>G	ENST00000292852.4	-	4	875	c.534G>C	c.(532-534)caG>caC	p.Q178H	SARS2_ENST00000448145.2_Missense_Mutation_p.Q13H|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.D83H|FBXO17_ENST00000595329.1_Missense_Mutation_p.Q178H	NM_024907.5	NP_079183.4			F-box protein 17											breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGATCTCAATCTGGGCGCTGT	0.637000													12	49					0	0	0.016723	0	0
LRIT3	345193	broad.mit.edu	37	4	110791623	110791623	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:110791623G>A	ENST00000327908.3	+	4	1933	c.1169G>A	c.(1168-1170)aGa>aAa	p.R390K	LRIT3_ENST00000594814.1_Missense_Mutation_p.R573K|LRIT3_ENST00000409621.2_Missense_Mutation_p.R390K|LRIT3_ENST00000379920.3_Missense_Mutation_p.R528K			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	528						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TCTACTGAAAGAGTTGAAGGA	0.453000													17	65					0	0	0.038395	0	0
ATAD5	79915	broad.mit.edu	37	17	29162726	29162726	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29162726G>A	ENST00000321990.4	+	2	2005	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	543					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGTTTATGAAGATATAGCAAA	0.289000													20	70					0	0	0.049695	0	0
DIDO1	11083	broad.mit.edu	37	20	61525160	61525160	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:61525160C>T	ENST00000266070.4	-	12	3284	c.2959G>A	c.(2959-2961)Gac>Aac	p.D987N	DIDO1_ENST00000395343.1_Missense_Mutation_p.D987N|DIDO1_ENST00000395335.2_Missense_Mutation_p.D987N|DIDO1_ENST00000395340.1_Missense_Mutation_p.D987N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	987					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGTGCTGTCTGGGCGGGAT	0.622000													16	86					0	0	0.038395	0	0
ZUFSP	221302	broad.mit.edu	37	6	116988128	116988128	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:116988128C>T	ENST00000368576.3	-	2	471	c.228G>A	c.(226-228)aaG>aaA	p.K76K	ZUFSP_ENST00000471919.1_Intron|ZUFSP_ENST00000368573.1_Silent_p.K76K	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	76						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TGTTGTCTTTCTTGTTATCTG	0.338000													15	83					0	0	0.024245	0	0
CLCA1	1179	broad.mit.edu	37	1	86964330	86964330	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:86964330G>C	ENST00000234701.3	+	14	2540	c.2189G>C	c.(2188-2190)aGa>aCa	p.R730T	CLCA1_ENST00000394711.1_Missense_Mutation_p.R730T			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	730					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TGTTTCAGCAGAACATCCTCG	0.423000													13	94					0	0	0.020292	0	0
ZNF536	9745	broad.mit.edu	37	19	31038871	31038871	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:31038871C>T	ENST00000355537.3	+	4	2492	c.2345C>T	c.(2344-2346)cCg>cTg	p.P782L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TACAAGTGTCCGCACTGTGAC	0.502000													13	70					0	0	0.013537	0	0
KLHL24	54800	broad.mit.edu	37	3	183368194	183368194	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:183368194G>A	ENST00000454652.1	+	4	436	c.50G>A	c.(49-51)cGt>cAt	p.R17H	KLHL24_ENST00000476808.1_Missense_Mutation_p.R17H|KLHL24_ENST00000242810.6_Missense_Mutation_p.R17H			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	17						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CTTGGGGTGCGTGATTCCCCA	0.408000													7	59					0	0	0.029380	0	0
SLFNL1	200172	broad.mit.edu	37	1	41481844	41481844	+	Silent	SNP	C	C	T	rs142166637		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:41481844C>T	ENST00000359345.1	-	4	3734	c.1158G>A	c.(1156-1158)gaG>gaA	p.E386E	SLFNL1_ENST00000397197.2_Silent_p.E338E|SLFNL1_ENST00000439569.2_Silent_p.E386E|SLFNL1_ENST00000372611.1_Silent_p.E327E|SLFNL1_ENST00000372613.2_Silent_p.E338E|SLFNL1_ENST00000302946.8_Silent_p.E386E	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	386							ATP binding	p.E386E(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GCTGCTCCTTCTCCATCATCA	0.637000													14	94					0	0	0.024245	0	0
USP5	8078	broad.mit.edu	37	12	6966015	6966015	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:6966015G>A	ENST00000229268.8	+	6	781	c.729G>A	c.(727-729)ccG>ccA	p.P243P	USP5_ENST00000389231.5_Silent_p.P243P	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	243					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CAGGCTACCCGTTAGCTGTCA	0.537000													9	48					0	0	0.006214	0	0
GDF15	9518	broad.mit.edu	37	19	18497038	18497038	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:18497038G>C	ENST00000595973.1	+	2	590	c.39G>C	c.(37-39)caG>caC	p.Q13H	GDF15_ENST00000252809.3_Missense_Mutation_p.Q13H			Q99988	GDF15_HUMAN	growth differentiation factor 15	13					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						ATGGCTCTCAGATGCTCCTGG	0.647000													5	39					0	0	0.029380	0	0
CTSW	1521	broad.mit.edu	37	11	65650706	65650706	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:65650706C>G	ENST00000528419.1	+	9	835	c.831C>G	c.(829-831)atC>atG	p.I277M	CTSW_ENST00000307886.3_Missense_Mutation_p.I277M			P56202	CATW_HUMAN	cathepsin W	277					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		AAGGTGTGATCAAGGCCACAC	0.617000													17	71					0	0	0.049695	0	0
RRP1	8568	broad.mit.edu	37	21	45219458	45219458	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr21:45219458C>T	ENST00000497547.1	+	9	936	c.819C>T	c.(817-819)atC>atT	p.I273I	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	273					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CAGGCTCCATCTGCAGGGCTG	0.647000													5	45					0	0	0.029380	0	0
ATP1B3	483	broad.mit.edu	37	3	141626075	141626075	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:141626075C>T	ENST00000539728.1	+	4	556	c.263C>T	c.(262-264)tCg>tTg	p.S88L	ATP1B3_ENST00000462082.1_Intron|ATP1B3_ENST00000286371.3_Missense_Mutation_p.S102L			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	102					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	p.S102L(1)		cervix(1)|endometrium(1)|lung(2)	4						GATCCAACTTCGTATGCAGGG	0.343000													8	52					0	0	0.008291	0	0
ITIH2	3698	broad.mit.edu	37	10	7759731	7759731	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:7759731C>T	ENST00000358415.4	+	6	776	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	ITIH2_ENST00000379587.4_Missense_Mutation_p.R193W|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	204					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCAACCTGGACGGCTGGCCAA	0.512000													24	135					0	0	0.018920	0	0
MUT	4594	broad.mit.edu	37	6	49415427	49415427	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:49415427C>T	ENST00000274813.3	-	8	1643	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	506					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGTATTATCAATTGCCAGA	0.318000													13	70					0	0	0.024245	0	0
ABCA4	24	broad.mit.edu	37	1	94577116	94577116	+	Silent	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:94577116C>G	ENST00000370225.3	-	3	266	c.180G>C	c.(178-180)gcG>gcC	p.A60A	ABCA4_ENST00000535735.1_Silent_p.A60A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	60			A -> E (in STGD1).|A -> T (in STGD1).|A -> V (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A60A(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGAGGGCATCGCCTTGTTGG	0.512000													10	52					0	0	0.008291	0	0
LCLAT1	253558	broad.mit.edu	37	2	30756062	30756062	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:30756062C>G	ENST00000309052.4	+	4	569	c.360C>G	c.(358-360)atC>atG	p.I120M	LCLAT1_ENST00000319406.4_Missense_Mutation_p.I120M|LCLAT1_ENST00000359433.1_Missense_Mutation_p.I120M|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.I82M|LCLAT1_ENST00000540623.1_Missense_Mutation_p.I82M	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	120					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GTGTCATTATCATGAACCATC	0.403000													13	133					0	0	0.013537	0	0
ATAD5	79915	broad.mit.edu	37	17	29161585	29161585	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29161585G>C	ENST00000321990.4	+	2	864	c.486G>C	c.(484-486)aaG>aaC	p.K162N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	162					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TACGTTACAAGAAACAAGTAG	0.313000													16	197					0	0	0.033300	0	0
VAMP5	10791	broad.mit.edu	37	2	85818887	85818887	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:85818887G>A	ENST00000306384.4	+	2	126	c.43G>A	c.(43-45)Gag>Aag	p.E15K		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	15	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system				NS(1)|large_intestine(3)|lung(1)	5						GCAGGCGAACGAGGTGACGGA	0.602000													21	80					0	0	0.049695	0	0
USP32	84669	broad.mit.edu	37	17	58282903	58282903	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:58282903C>T	ENST00000300896.4	-	26	3348	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K	USP32_ENST00000592339.1_Missense_Mutation_p.E722K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1052					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AAGTTCTTCTCAGTTCCACAT	0.443000													11	78					0	0	0.020292	0	0
FAM26D	221301	broad.mit.edu	37	6	116879267	116879267	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:116879267C>G	ENST00000368596.3	+	2	882	c.838C>G	c.(838-840)Ctt>Gtt	p.L280V	FAM26D_ENST00000416171.2_Missense_Mutation_p.L136V|FAM26D_ENST00000405399.1_Missense_Mutation_p.L137V|FAM26D_ENST00000368597.2_Missense_Mutation_p.L94V			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	280						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		AGTACCCACTCTTTTATGCAT	0.423000													16	113					0	0	0.028581	0	0
PHRF1	57661	broad.mit.edu	37	11	587453	587453	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:587453G>A	ENST00000264555.5	+	4	537	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	PHRF1_ENST00000533464.1_Missense_Mutation_p.E133K|PHRF1_ENST00000416188.2_Missense_Mutation_p.E137K|PHRF1_ENST00000413872.2_Missense_Mutation_p.E136K	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	137							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTGCATTGTCGAATGGTCCAA	0.562000													9	54					0	0	0.047766	0	0
NBAS	51594	broad.mit.edu	37	2	15417101	15417101	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:15417101C>T	ENST00000281513.5	-	43	5288	c.5263G>A	c.(5263-5265)Gat>Aat	p.D1755N	NBAS_ENST00000441750.1_Missense_Mutation_p.D1635N	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1755										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTTCGTGATCAAAGCCACCA	0.443000													6	51					0	0	0.038147	0	0
GAPDHS	26330	broad.mit.edu	37	19	36033280	36033280	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:36033280C>G	ENST00000222286.4	+	5	625	c.509C>G	c.(508-510)aCa>aGa	p.T170R	AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	170					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GTGGAGTCCACAGGCGTGTAC	0.637000													8	38					0	0	0.008291	0	0
ZNF554	115196	broad.mit.edu	37	19	2834250	2834250	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:2834250G>C	ENST00000317243.5	+	5	1215	c.1017G>C	c.(1015-1017)ttG>ttC	p.L339F		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCATTCTTTGAGCGAACATC	0.537000													9	66					0	0	0.047766	0	0
RUNX3	864	broad.mit.edu	37	1	25254140	25254140	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:25254140G>A	ENST00000399916.1	-	3	844	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000308873.6_Missense_Mutation_p.R122C|RUNX3_ENST00000338888.3_Missense_Mutation_p.R136C|RUNX3_ENST00000540420.1_Missense_Mutation_p.R29C	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	122	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GAGGCATTGCGCAGCTCAGCG	0.632000													14	104					0	0	0.028581	0	0
STEAP2	261729	broad.mit.edu	37	7	89856767	89856767	+	Missense_Mutation	SNP	G	G	C	rs151250725		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:89856767G>C	ENST00000287908.3	+	3	1368	c.975G>C	c.(973-975)atG>atC	p.M325I	STEAP2_ENST00000402625.2_Missense_Mutation_p.M325I|STEAP2_ENST00000394622.2_Missense_Mutation_p.M325I|STEAP2_ENST00000394632.1_Missense_Mutation_p.M325I|STEAP2_ENST00000394629.2_Missense_Mutation_p.M325I|STEAP2_ENST00000394626.1_Missense_Mutation_p.M325I|STEAP2_ENST00000394621.2_Missense_Mutation_p.M325I	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	325	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GCTTACCGATGAGAAGGTCAG	0.383000													10	40					0	0	0.006214	0	0
CHST15	51363	broad.mit.edu	37	10	125805644	125805644	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:125805644G>A	ENST00000346248.5	-	2	727	c.85C>T	c.(85-87)Cac>Tac	p.H29Y	CHST15_ENST00000435907.1_Missense_Mutation_p.H29Y|CHST15_ENST00000421115.1_Missense_Mutation_p.H29Y|CHST15_ENST00000462406.1_5'UTR	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	29					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGGTGACCGTGATGGGGGCCC	0.547000													9	62					0	0	0.006214	0	0
BAIAP3	8938	broad.mit.edu	37	16	1398119	1398119	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:1398119C>T	ENST00000324385.5	+	33	3435	c.3277C>T	c.(3277-3279)Cgc>Tgc	p.R1093C	BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1022C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1058C|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1030C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1075C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1035C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1075C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1093	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CGAGGCGTGCCGCCGCCGCGC	0.701000													7	33					0	0	0.038147	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65198093	65198093	+	Silent	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:65198093C>G	ENST00000247226.7	+	6	1004	c.696C>G	c.(694-696)ctC>ctG	p.L232L	PLEKHG3_ENST00000394691.1_Silent_p.L288L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	288	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			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)		TTCAGTCACTCCTCATCAACT	0.602000													5	33					0	0	0.029380	0	0
KNG1	3827	broad.mit.edu	37	3	186450325	186450325	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:186450325C>T	ENST00000265023.4	+	7	1004	c.792C>T	c.(790-792)tgC>tgT	p.C264C	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Silent_p.C264C|KNG1_ENST00000447445.1_Silent_p.C228C	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	264	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CCAAGATTTGCGTGGGCTGCC	0.488000													21	127					0	0	0.016522	0	0
RAD17	5884	broad.mit.edu	37	5	68669684	68669684	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:68669684G>C	ENST00000509734.1	+	4	748	c.70G>C	c.(70-72)Gat>Cat	p.D24H	RAD17_ENST00000354868.5_Missense_Mutation_p.D13H|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000354312.3_Missense_Mutation_p.D13H|RAD17_ENST00000380774.3_Missense_Mutation_p.D24H|RAD17_ENST00000361732.2_Missense_Mutation_p.D13H|RAD17_ENST00000345306.6_Missense_Mutation_p.D13H|RAD17_ENST00000305138.4_Missense_Mutation_p.D13H|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000358030.2_5'UTR			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	24					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CCCATCATTTGATGATTTTCT	0.358000								Other conserved DNA damage response genes					13	73					0	0	0.024245	0	0
ZNF816	125893	broad.mit.edu	37	19	53454322	53454322	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:53454322T>C	ENST00000357666.4	-	5	1006	c.706A>G	c.(706-708)Aaa>Gaa	p.K236E	ZNF816_ENST00000444460.2_Missense_Mutation_p.K236E|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TTAAAGGCTTTGCCACACTCA	0.348000													14	75					0	0	0.016723	0	0
DDX3X	1654	broad.mit.edu	37	X	41206210	41206210	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:41206210G>C	ENST00000399959.2	+	15	2569	c.1714G>C	c.(1714-1716)Gaa>Caa	p.E572Q	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.E556Q|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	572	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GTCTTGGTTAGAAAACATGGC	0.403000										HNSCC(61;0.18)			16	22					0	0	0.024245	0	0
ZHX2	22882	broad.mit.edu	37	8	123965807	123965807	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:123965807G>C	ENST00000314393.4	+	3	2892	c.2057G>C	c.(2056-2058)gGa>gCa	p.G686A		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	686						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGAAAACGGGAACCGTGAAG	0.557000													5	52					0	0	0.021553	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													5	5					0	0	0.014758	0	0
HDAC7	51564	broad.mit.edu	37	12	48179624	48179624	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:48179624C>T	ENST00000080059.7	-	23	2616	c.2617G>A	c.(2617-2619)Gca>Aca	p.A873T	HDAC7_ENST00000552960.1_Missense_Mutation_p.A856T|HDAC7_ENST00000427332.2_Missense_Mutation_p.A834T|HDAC7_ENST00000354334.3_Missense_Mutation_p.A836T|HDAC7_ENST00000380610.4_Missense_Mutation_p.A890T|AC004466.1_ENST00000599515.1_3'UTR	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	834					negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		AGCACCACTGCGCCTCCTGCC	0.602000													7	37					0	0	0.038147	0	0
LCN10	414332	broad.mit.edu	37	9	139635723	139635723	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:139635723C>T	ENST00000497771.1	-	3	403	c.348G>A	c.(346-348)ccG>ccA	p.P116P	LCN10_ENST00000527229.1_Silent_p.P116P|LCN10_ENST00000474369.1_Intron|LCN6_ENST00000435202.1_Intron	NM_001001712.2	NP_001001712.2	Q6JVE6	LCN10_HUMAN	lipocalin 10	103					transport	extracellular region	binding			breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GTCCTTCCCTCGGGCCCGCCG	0.652000													4	30					0	0	0.009096	0	0
DSP	1832	broad.mit.edu	37	6	7570715	7570715	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:7570715C>T	ENST00000379802.3	+	13	1961	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	DSP_ENST00000418664.2_Silent_p.L540L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	540	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGAACCAGCTCTACATCAACA	0.498000													24	114					0	0	0.021523	0	0
WDR53	348793	broad.mit.edu	37	3	196288262	196288262	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:196288262C>G	ENST00000332629.5	-	3	652	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	29										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TCTCCGCCCTCTGCTCCAGAA	0.542000													7	38					0	0	0.038147	0	0
PRKACB	5567	broad.mit.edu	37	1	84650847	84650847	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:84650847G>A	ENST00000370689.2	+	5	665	c.401G>A	c.(400-402)aGa>aAa	p.R134K	PRKACB_ENST00000394839.2_Missense_Mutation_p.R104K|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000394838.2_Missense_Mutation_p.R141K|PRKACB_ENST00000370682.3_Missense_Mutation_p.R138K|PRKACB_ENST00000370688.3_Missense_Mutation_p.R134K|PRKACB_ENST00000370680.1_Missense_Mutation_p.R140K|PRKACB_ENST00000370685.3_Missense_Mutation_p.R181K	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	134	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TCACATCTAAGAAGAATTGGA	0.308000													23	152					0	0	0.021523	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10204273	10204273	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:10204273C>T	ENST00000253109.4	-	5	1212	c.974G>A	c.(973-975)gGa>gAa	p.G325E	ANGPTL6_ENST00000589181.1_Missense_Mutation_p.G285E|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.G325E	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	325	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CCAGTATTCTCCGTCTGGCCG	0.647000													6	20					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179547472	179547472	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:179547472C>T	ENST00000589042.1	-	135	33270	c.33046G>A	c.(33046-33048)Gag>Aag	p.E11016K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10699K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9772K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10699	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCGCTCCTCGTATTCTTCA	0.358000													30	216					0	0	0.054565	0	0
EIF3A	8661	broad.mit.edu	37	10	120801689	120801689	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:120801689C>T	ENST00000369144.3	-	19	3470	c.3343G>A	c.(3343-3345)Gat>Aat	p.D1115N	EIF3A_ENST00000541549.1_Missense_Mutation_p.D1081N|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1115	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCTCGATCATCATCCAACCCT	0.602000													25	131					0	0	0.027356	0	0
HERC2	8924	broad.mit.edu	37	15	28459835	28459835	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:28459835G>A	ENST00000261609.7	-	40	6432	c.6324C>T	c.(6322-6324)ctC>ctT	p.L2108L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2108					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAGGTAGTGAGCAAGCTTC	0.562000													5	22					0	0	0.014758	0	0
TARBP2	6895	broad.mit.edu	37	12	53895890	53895890	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:53895890G>A	ENST00000266987.2	+	2	628	c.145G>A	c.(145-147)Gac>Aac	p.D49N	TARBP2_ENST00000456234.2_Missense_Mutation_p.D28N|TARBP2_ENST00000394357.2_Missense_Mutation_p.D28N|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000549028.1_3'UTR	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	49	DRBM 1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GCCTGTGTACGACCTTCTCAA	0.592000													13	55					0	0	0.020292	0	0
GGA1	26088	broad.mit.edu	37	22	38028118	38028118	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:38028118G>A	ENST00000406772.1	+	16	2077	c.1425G>A	c.(1423-1425)ctG>ctA	p.L475L	GGA1_ENST00000381756.5_Silent_p.L565L|GGA1_ENST00000325180.8_Silent_p.L461L|GGA1_ENST00000337437.4_Silent_p.L515L|GGA1_ENST00000343632.4_Silent_p.L548L	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	548	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					TTTCCATGCTGAGCACCGCCC	0.627000													3	21					0	0	0.004672	0	0
CLASP2	23122	broad.mit.edu	37	3	33585011	33585011	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:33585011C>T	ENST00000399362.4	-	32	3692	c.3339G>A	c.(3337-3339)ttG>ttA	p.L1113L	CLASP2_ENST00000307312.7_Silent_p.L595L|CLASP2_ENST00000480013.1_Silent_p.L893L|CLASP2_ENST00000468888.2_Silent_p.L1114L|CLASP2_ENST00000539981.1_Silent_p.L883L|CLASP2_ENST00000461133.3_Silent_p.L873L|CLASP2_ENST00000359576.5_Silent_p.L1105L	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1115										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTGGTCTTGTCAAAGGACTCC	0.393000													13	80					0	0	0.033300	0	0
NMS	129521	broad.mit.edu	37	2	101096984	101096984	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:101096984C>T	ENST00000376865.1	+	7	370	c.363C>T	c.(361-363)ttC>ttT	p.F121F		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	121					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CAGTGGACTTCACCAAGAAGG	0.562000													8	52					0	0	0.006214	0	0
MME	4311	broad.mit.edu	37	3	154860103	154860103	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:154860103G>C	ENST00000460393.1	+	12	1292	c.1172G>C	c.(1171-1173)aGa>aCa	p.R391T	MME_ENST00000493237.1_Missense_Mutation_p.R391T|MME_ENST00000462745.1_Missense_Mutation_p.R391T|MME_ENST00000360490.2_Missense_Mutation_p.R391T|MME_ENST00000492661.1_Missense_Mutation_p.R391T	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	391					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AAGGAGTCCAGAAATGCTTTC	0.393000													14	87					0	0	0.016723	0	0
MYH14	79784	broad.mit.edu	37	19	50780093	50780093	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:50780093G>A	ENST00000440075.2	+	29	3807	c.3760G>A	c.(3760-3762)Gag>Aag	p.E1254K	MYH14_ENST00000601313.1_Missense_Mutation_p.E1254K|MYH14_ENST00000425460.1_Missense_Mutation_p.E1221K|MYH14_ENST00000376970.2_Missense_Mutation_p.E1246K|MYH14_ENST00000262269.8_Missense_Mutation_p.E1254K|MYH14_ENST00000598205.1_Missense_Mutation_p.E1221K|MYH14_ENST00000596571.1_Missense_Mutation_p.E1213K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1213					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGCAGTGCAGGAGCTGAGGCA	0.677000													14	51					0	0	0.024245	0	0
XIST	7503	broad.mit.edu	37	X	73072061	73072061	+	RNA	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:73072061G>A	ENST00000429829.1	-	0	527					NR_001564.2																						AAGGGAATCAGCAGGTATCCG	0.478000													3	6					0	0	0.004672	0	0
FNIP2	57600	broad.mit.edu	37	4	159790180	159790180	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:159790180G>C	ENST00000264433.6	+	13	2467	c.2392G>C	c.(2392-2394)Gac>Cac	p.D798H	FNIP2_ENST00000379346.3_Missense_Mutation_p.D821H	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	798	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTTTGCAGAGGACAGAGGCAG	0.562000													13	143					0	0	0.020292	0	0
VIM	7431	broad.mit.edu	37	10	17275592	17275592	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:17275592G>C	ENST00000544301.1	+	4	1044	c.631G>C	c.(631-633)Gac>Cac	p.D211H	VIM_ENST00000224237.5_Missense_Mutation_p.D211H|RP11-124N14.3_ENST00000456355.1_RNA	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	211	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATAGGATGTTGACAATGCGTC	0.403000													7	37					0	0	0.038147	0	0
FBXL4	26235	broad.mit.edu	37	6	99347183	99347183	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:99347183G>A	ENST00000369244.2	-	7	1706	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C	FBXL4_ENST00000229971.1_Silent_p.C426C			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	426					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GTTTAAGGCTGCATAACTTGG	0.378000													14	78					0	0	0.043863	0	0
KLHL4	56062	broad.mit.edu	37	X	86890739	86890739	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:86890739C>T	ENST00000373119.4	+	9	2034	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	KLHL4_ENST00000373114.4_Missense_Mutation_p.S630F	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	630						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCCCCTGCTTCCAACCATTGC	0.403000													12	27					0	0	0.010729	0	0
ABCA4	24	broad.mit.edu	37	1	94502326	94502326	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:94502326C>T	ENST00000370225.3	-	26	3918	c.3832G>A	c.(3832-3834)Gag>Aag	p.E1278K		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1278					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAGAATCCTCCGTGACCTTC	0.438000													31	125					0	0	0.034045	0	0
TRPM5	29850	broad.mit.edu	37	11	2433448	2433448	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:2433448C>T	ENST00000452833.1	-	16	2405	c.2397G>A	c.(2395-2397)aaG>aaA	p.K799K	TRPM5_ENST00000533060.1_Silent_p.K797K|TRPM5_ENST00000155858.6_Silent_p.K797K|TRPM5_ENST00000528453.1_Silent_p.K797K			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	797						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGTGAACTTCTTCACCAGGT	0.597000													29	104					0	0	0.037714	0	0
SPTAN1	6709	broad.mit.edu	37	9	131388879	131388879	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:131388879G>C	ENST00000372739.3	+	49	6599	c.6489G>C	c.(6487-6489)aaG>aaC	p.K2163N	SPTAN1_ENST00000372731.4_Missense_Mutation_p.K2158N|SPTAN1_ENST00000358161.5_Missense_Mutation_p.K2163N	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2158				A -> R (in Ref. 13; CAA60503).	actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCCAGATCAAGAGCTTCCGCG	0.597000													9	32					0	0	0.047766	0	0
ZNF19	7567	broad.mit.edu	37	16	71510032	71510032	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:71510032C>A	ENST00000288177.5	-	6	673	c.418G>T	c.(418-420)Gac>Tac	p.D140Y	ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565637.1_Missense_Mutation_p.D98Y|ZNF19_ENST00000565100.2_Missense_Mutation_p.D70Y|ZNF19_ENST00000564230.1_Missense_Mutation_p.D140Y|AC010547.9_ENST00000561908.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	140						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GTGGGGATGTCCTGGTGCTTT	0.448000													8	42					0.0381472	0.0384951	0.038147	1	0
MLLT6	4302	broad.mit.edu	37	17	36876644	36876644	+	Silent	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:36876644G>C	ENST00000325718.7	+	15	2266	c.2175G>C	c.(2173-2175)gcG>gcC	p.A725A		NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	725					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TGCTGAAGGCGCTGCACGCGC	0.682000			T	MLL	AL								4	24					0	0	0.009096	0	0
MAP1A	4130	broad.mit.edu	37	15	43814069	43814069	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:43814069G>C	ENST00000382031.1	+	5	1143	c.1112G>C	c.(1111-1113)gGa>gCa	p.G371A	MAP1A_ENST00000399453.1_Missense_Mutation_p.G133A|MAP1A_ENST00000300231.5_Missense_Mutation_p.G133A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	133	Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCTGAGCTTGGAGTTGTCTTT	0.557000													13	51					0	0	0.020292	0	0
CASZ1	54897	broad.mit.edu	37	1	10703259	10703259	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:10703259C>T	ENST00000377022.3	-	19	4295	c.3978G>A	c.(3976-3978)cgG>cgA	p.R1326R	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCAGCATCCTCCGCATGTGCT	0.652000													7	49					0	0	0.029380	0	0
PRG4	10216	broad.mit.edu	37	1	186275736	186275736	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:186275736G>A	ENST00000445192.2	+	7	930	c.885G>A	c.(883-885)caG>caA	p.Q295Q	PRG4_ENST00000367484.3_Silent_p.Q254Q|PRG4_ENST00000367486.3_Silent_p.Q252Q|PRG4_ENST00000367485.4_Silent_p.Q202Q|PRG4_ENST00000367483.4_Silent_p.Q254Q	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	295					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAATAAACAGACTTCAACTG	0.368000													32	174					0	0	0.041601	0	0
SFRP1	6422	broad.mit.edu	37	8	41161008	41161008	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:41161008G>C	ENST00000220772.3	-	2	931	c.594C>G	c.(592-594)atC>atG	p.I198M	SFRP1_ENST00000379845.3_Missense_Mutation_p.I62M	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	198	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GATGTTCAATGATGGCCTCAG	0.527000													11	36					0	0	0.013537	0	0
C9orf3	84909	broad.mit.edu	37	9	97844977	97844977	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:97844977G>T	ENST00000375315.2	+	15	2440	c.2440G>T	c.(2440-2442)Gtg>Ttg	p.V814L	C9orf3_ENST00000433691.2_Missense_Mutation_p.V155L|C9orf3_ENST00000297979.5_Missense_Mutation_p.V715L|C9orf3_ENST00000425634.2_Missense_Mutation_p.V176L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	814					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGCCCAGGTGGTGGCCGAAAT	0.517000													13	50					4.3838e-07	4.60577e-07	0.016723	1	0
KIF14	9928	broad.mit.edu	37	1	200524573	200524573	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:200524573C>G	ENST00000367350.4	-	28	4801	c.4363G>C	c.(4363-4365)Gaa>Caa	p.E1455Q		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1455	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	p.E1455*(1)|p.E1455Q(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTTTTCATTTCTTTGGTAACC	0.264000													8	34					0	0	0.038147	0	0
SEPT12	124404	broad.mit.edu	37	16	4835884	4835884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:4835884C>A	ENST00000268231.8	-	4	561	c.298G>T	c.(298-300)Gag>Tag	p.E100*	SEPT12_ENST00000396693.5_Nonsense_Mutation_p.E100*|SEPT12_ENST00000591861.1_5'UTR	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	100					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CCCTTCTCCTCTATGACTGTG	0.582000													9	78					0.00621372	0.00630873	0.006214	1	0
ADAMTS13	11093	broad.mit.edu	37	9	136323096	136323096	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:136323096G>A	ENST00000371929.3	+	28	4401	c.3957G>A	c.(3955-3957)acG>acA	p.T1319T	ADAMTS13_ENST00000356589.2_Silent_p.T1232T|ADAMTS13_ENST00000355699.2_Silent_p.T1263T|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371910.1_Silent_p.T115T|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1319	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTCCAGCCACGAGTAATGCAG	0.607000													4	69					0	0	0.021553	0	0
PKD1L2	114780	broad.mit.edu	37	16	81209259	81209259	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:81209259G>C	ENST00000599697.1	-	15	2533	c.2534C>G	c.(2533-2535)tCt>tGt	p.S845C	PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	845	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTGGTGGCAGAAATAACTAC	0.532000													14	61					0	0	0.016723	0	0
HERC2	8924	broad.mit.edu	37	15	28413555	28413555	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:28413555C>G	ENST00000261609.7	-	67	10519	c.10411G>C	c.(10411-10413)Gag>Cag	p.E3471Q		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3471					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTTTTACCTCTCTCTTTTCT	0.428000													25	125					0	0	0.018920	0	0
C1S	716	broad.mit.edu	37	12	7169796	7169796	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:7169796C>T	ENST00000406697.1	+	6	651	c.23C>T	c.(22-24)tCa>tTa	p.S8L	C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Missense_Mutation_p.S8L|C1S_ENST00000328916.3_Missense_Mutation_p.S8L			P09871	C1S_HUMAN	complement component 1, s subcomponent	8					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GTCCTGTTTTCACTTTTGGCA	0.502000													9	69					0	0	0.006214	0	0
ZNF750	79755	broad.mit.edu	37	17	80789280	80789280	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:80789280C>T	ENST00000269394.3	-	2	1884	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	351						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GTGGCTTCTTCAAGCAGGTGA	0.532000													32	129					0	0	0.015359	0	0
WEE2	494551	broad.mit.edu	37	7	141422958	141422958	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:141422958C>T	ENST00000397541.2	+	6	1311	c.905C>T	c.(904-906)tCt>tTt	p.S302F	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	302	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GCTGCTATATCTGAAAACACT	0.418000													20	105					0	0	0.012319	0	0
ERC2	26059	broad.mit.edu	37	3	56173588	56173588	+	Silent	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:56173588G>C	ENST00000288221.6	-	6	1677	c.1422C>G	c.(1420-1422)ctC>ctG	p.L474L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	474						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTGACTCTTTGAGCACTTCAA	0.428000													11	48					0	0	0.013537	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124697	26124697	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:26124697C>T	ENST00000602637.1	+	1	267	c.237C>T	c.(235-237)atC>atT	p.I79I	HIST1H2AC_ENST00000377791.2_Silent_p.I79I			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	79					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AGACTCGCATCATCCCGCGCC	0.642000													21	109					0	0	0.018920	0	0
EPHA3	2042	broad.mit.edu	37	3	89259517	89259517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:89259517C>T	ENST00000336596.2	+	3	886	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	EPHA3_ENST00000494014.1_Nonsense_Mutation_p.Q221*|EPHA3_ENST00000452448.2_Nonsense_Mutation_p.Q221*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	221	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CATGGACTCCCAGTCCCTGGT	0.478000										TSP Lung(6;0.00050)			18	137					0	0	0.043863	0	0
TXNRD2	10587	broad.mit.edu	37	22	19868160	19868160	+	Silent	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:19868160C>A	ENST00000400519.1	-	13	1163	c.1164G>T	c.(1162-1164)ctG>ctT	p.L388L	TXNRD2_ENST00000400525.1_Silent_p.L366L|TXNRD2_ENST00000400518.1_Silent_p.L359L|TXNRD2_ENST00000542719.1_Silent_p.L359L|TXNRD2_ENST00000400521.1_Silent_p.L389L|TXNRD2_ENST00000535882.1_Silent_p.L388L			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	389					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CGTAGTCCATCAGATCTGAGG	0.632000													4	48					0.00909568	0.00922066	0.009096	1	0
NAT16	375607	broad.mit.edu	37	7	100816658	100816658	+	Silent	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:100816658C>A	ENST00000300303.2	-	3	694	c.456G>T	c.(454-456)ccG>ccT	p.P152P	NAT16_ENST00000455377.1_Silent_p.P152P	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	152	N-acetyltransferase.						N-acetyltransferase activity										CCTTGACCCCCGGGTGCTGTC	0.687000													14	42					7.93312e-07	8.28238e-07	0.020292	1	0
PROSER1	80209	broad.mit.edu	37	13	39588581	39588581	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr13:39588581G>C	ENST00000352251.3	-	11	1641	c.808C>G	c.(808-810)Cct>Gct	p.P270A	PROSER1_ENST00000350125.3_Missense_Mutation_p.P248A|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	270	Pro-rich.																GAACCATGAGGAGAAAAGAGT	0.433000													5	31					0	0	0.021553	0	0
MTAP	4507	broad.mit.edu	37	9	21854777	21854777	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:21854777C>T	ENST00000380172.4	+	6	804	c.598C>T	c.(598-600)Cca>Tca	p.P200S	MTAP_ENST00000460874.2_Missense_Mutation_p.P217S|MTAP_ENST00000580900.1_Missense_Mutation_p.P200S|RP11-145E5.5_ENST00000404796.2_Intron	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	200					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	GACCACAGTTCCAGAGGTGGT	0.537000													9	58					0	0	0.006214	0	0
SLC35G1	159371	broad.mit.edu	37	10	95660597	95660597	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:95660597G>A	ENST00000371408.3	+	3	506	c.445G>A	c.(445-447)Gct>Act	p.A149T	SLC35G1_ENST00000427197.1_Missense_Mutation_p.A150T			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	150	DUF6 1.					integral to membrane											TATATACTATGCTTACCAGAC	0.413000													15	69					0	0	0.020292	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302008	179302008	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:179302008C>T	ENST00000356834.3	-	12	2117	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E694K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	694	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGATGCCCTCATAGAAAAAG	0.622000													10	49					0	0	0.008291	0	0
ALPK3	57538	broad.mit.edu	37	15	85406847	85406847	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:85406847C>T	ENST00000258888.5	+	11	5248	c.5081C>T	c.(5080-5082)gCg>gTg	p.A1694V		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1694	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCGGGCCGCGCCTGGCTTT	0.557000													6	21					0	0	0.021553	0	0
LAP3	51056	broad.mit.edu	37	4	17583385	17583385	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:17583385C>T	ENST00000226299.4	+	3	495	c.221C>T	c.(220-222)tCt>tTt	p.S74F	LAP3_ENST00000606142.1_Missense_Mutation_p.S43F	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	74					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGTTTTAGATCTGGACCACCT	0.418000													12	74					0	0	0.016723	0	0
A4GNT	51146	broad.mit.edu	37	3	137843367	137843367	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:137843367G>A	ENST00000236709.3	-	3	963	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	254					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	p.F254F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GGGGGTGTAAGAAGGATATGT	0.493000													21	73					0	0	0.049695	0	0
PLK3	1263	broad.mit.edu	37	1	45268512	45268512	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:45268512C>T	ENST00000372201.4	+	6	973	c.734C>T	c.(733-735)tCa>tTa	p.S245L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	245	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GATGTATGGTCACTGGGCTGT	0.597000													11	59					0	0	0.013537	0	0
TRPM1	4308	broad.mit.edu	37	15	31323259	31323259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:31323259C>T	ENST00000542188.1	-	22	3418	c.3105G>A	c.(3103-3105)tgG>tgA	p.W1035*	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Nonsense_Mutation_p.W996*|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Nonsense_Mutation_p.W1018*	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	996					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGGCCAGTTTCCAAGAGGGCT	0.478000													12	99					0	0	0.010729	0	0
ATP12A	479	broad.mit.edu	37	13	25263408	25263408	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr13:25263408G>A	ENST00000218548.6	+	5	774	c.441G>A	c.(439-441)ttG>ttA	p.L147L	ATP12A_ENST00000381946.3_Silent_p.L147L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	147					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AGGTGTACTTGGGCTGTGTGC	0.532000													19	187					0	0	0.055883	0	0
DNAH11	8701	broad.mit.edu	37	7	21781778	21781778	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:21781778C>T	ENST00000328843.6	+	50	8200	c.8169C>T	c.(8167-8169)gtC>gtT	p.V2723V	DNAH11_ENST00000409508.3_Silent_p.V2716V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2723	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATCAAACGTCTTCCAGGTAC	0.358000									Kartagener syndrome				13	45					0	0	0.016723	0	0
SMARCD3	6604	broad.mit.edu	37	7	150936782	150936782	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:150936782G>C	ENST00000392811.2	-	12	1659	c.1185C>G	c.(1183-1185)ttC>ttG	p.F395L	SMARCD3_ENST00000262188.8_Missense_Mutation_p.F408L|SMARCD3_ENST00000356800.2_Missense_Mutation_p.F395L	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	408					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTTAGCATGAAGTCCCTCT	0.532000													21	98					0	0	0.012319	0	0
BCO2	83875	broad.mit.edu	37	11	112071361	112071361	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:112071361C>T	ENST00000357685.5	+	7	1026	c.891C>T	c.(889-891)ttC>ttT	p.F297F	BCO2_ENST00000531169.1_Silent_p.F263F|BCO2_ENST00000438022.1_Silent_p.F263F|BCO2_ENST00000526088.1_Silent_p.F263F|BCO2_ENST00000393032.2_Silent_p.F263F|BCO2_ENST00000361053.4_Silent_p.F224F|BCO2_ENST00000532593.1_Silent_p.F192F|SDHD_ENST00000532612.1_3'UTR			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	297					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ATATAATTTTCATTGAACAAC	0.383000													13	57					0	0	0.013537	0	0
EHMT2	10919	broad.mit.edu	37	6	31856391	31856391	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:31856391C>G	ENST00000395728.3	-	10	1520	c.1521G>C	c.(1519-1521)gaG>gaC	p.E507D	EHMT2_ENST00000375530.4_Missense_Mutation_p.E416D|EHMT2_ENST00000375528.4_Missense_Mutation_p.E473D|EHMT2_ENST00000375537.4_Missense_Mutation_p.E450D|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	450					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGTCCACACTCTCAGTGGCCA	0.662000													4	31					0	0	0.009096	0	0
HSPA5	3309	broad.mit.edu	37	9	127999008	127999008	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:127999008C>T	ENST00000324460.6	-	8	2031	c.1828G>A	c.(1828-1830)Gat>Aat	p.D610N		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	610					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	ATGTCAGCATCTTGGTGGCTT	0.423000										Prostate(1;0.17)			16	127					0	0	0.038395	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838091	92838091	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:92838091C>T	ENST00000394468.2	-	4	891	c.814G>A	c.(814-816)Gct>Act	p.A272T	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.A260T|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.A260T|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.A295T	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	272	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGAGAATCAGCAGAACAATCA	0.433000													14	78					0	0	0.024245	0	0
FN3KRP	79672	broad.mit.edu	37	17	80674690	80674690	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:80674690C>A	ENST00000269373.6	+	1	132	c.59C>A	c.(58-60)tCg>tAg	p.S20*	FN3KRP_ENST00000535965.1_5'UTR	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	20							kinase activity	p.G23fs*31(1)		breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ACGGGCCACTCGGGGGGCGGG	0.706000													5	19					0.00116845	0.00119178	0.021553	1	0
C1orf173	127254	broad.mit.edu	37	1	75038328	75038328	+	Silent	SNP	G	G	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:75038328G>T	ENST00000326665.5	-	14	3284	c.3066C>A	c.(3064-3066)gcC>gcA	p.A1022A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1022	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCAAAGGAAGGCTTCCTTTG	0.502000													17	95					0.000175454	0.000181184	0.055883	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36143457	36143457	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:36143457C>T	ENST00000258840.6	-	24	3859	c.3469G>A	c.(3469-3471)Gat>Aat	p.D1157N	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1110N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1123N|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D1110N			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1110					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTCAGGTTATCAGTTGAAATG	0.318000													6	20					0	0	0.038147	0	0
PAK2	5062	broad.mit.edu	37	3	196534686	196534686	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:196534686G>A	ENST00000327134.3	+	7	932	c.610G>A	c.(610-612)Gca>Aca	p.A204T		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	204					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCCTGTTCCTGCACCAGTTGG	0.393000													8	90					0	0	0.047766	0	0
PKD2L2	27039	broad.mit.edu	37	5	137271509	137271509	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:137271509G>A	ENST00000508638.1	+	11	1447	c.1392G>A	c.(1390-1392)atG>atA	p.M464I	PKD2L2_ENST00000350250.4_Missense_Mutation_p.M531I|PKD2L2_ENST00000290431.5_Missense_Mutation_p.M565I|PKD2L2_ENST00000502810.1_Missense_Mutation_p.M543I|PKD2L2_ENST00000508883.1_Missense_Mutation_p.M565I	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	565						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGAGCAGATGAAAAAATGGA	0.398000													6	44					0	0	0.021553	0	0
ZNF750	79755	broad.mit.edu	37	17	80788498	80788498	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:80788498C>T	ENST00000269394.3	-	3	2525	c.1692G>A	c.(1690-1692)ccG>ccA	p.P564P	ZNF750_ENST00000572562.1_Silent_p.P165P|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	564						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCAGGCCTCGGAGCCTGGG	0.627000													14	57					0	0	0.028581	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161431	123161431	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:123161431C>T	ENST00000264501.4	+	29	4967	c.4594C>T	c.(4594-4596)Cgt>Tgt	p.R1532C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R1532C|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R1532C			Q2LD37	K1109_HUMAN	KIAA1109	1532					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCATTGCATCGTCCCCTTGA	0.383000													15	77					0	0	0.020292	0	0
C19orf44	84167	broad.mit.edu	37	19	16611792	16611792	+	Silent	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:16611792C>G	ENST00000221671.3	+	2	345	c.189C>G	c.(187-189)ctC>ctG	p.L63L	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Silent_p.L63L	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	63										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AACACTTACTCCTGAAAGAGA	0.478000													26	192					0	0	0.021523	0	0
SLFNL1	200172	broad.mit.edu	37	1	41481853	41481853	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:41481853C>T	ENST00000359345.1	-	4	3725	c.1149G>A	c.(1147-1149)ctG>ctA	p.L383L	SLFNL1_ENST00000397197.2_Silent_p.L335L|SLFNL1_ENST00000439569.2_Silent_p.L383L|SLFNL1_ENST00000372611.1_Silent_p.L324L|SLFNL1_ENST00000372613.2_Silent_p.L335L|SLFNL1_ENST00000302946.8_Silent_p.L383L	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	383							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TCTCCATCATCAGCGCCTTCA	0.642000													15	90					0	0	0.033300	0	0
NEU2	4759	broad.mit.edu	37	2	233899032	233899032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:233899032G>A	ENST00000233840.3	+	2	408	c.408G>A	c.(406-408)tgG>tgA	p.W136*		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	136							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GGAGGACCTGGAGCTCCCCCA	0.637000													10	37					0	0	0.006214	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070129	141070129	+	RNA	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:141070129C>G	ENST00000503395.1	+	0	1209																											CGGGGCCCTTCGGGCAGGTCC	0.672000													10	83					0	0	0.010729	0	0
CIT	11113	broad.mit.edu	37	12	120204897	120204897	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:120204897C>G	ENST00000392521.2	-	19	2353	c.2298G>C	c.(2296-2298)aaG>aaC	p.K766N	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.K724N	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	724					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTACTTTAATCTTTTCCTCAT	0.488000													30	164					0	0	0.050027	0	0
PHKA2	5256	broad.mit.edu	37	X	18956826	18956826	+	Silent	SNP	G	G	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:18956826G>T	ENST00000379942.4	-	10	1625	c.960C>A	c.(958-960)ctC>ctA	p.L320L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	320					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGTTTTCGAAGAGCTTGAGTT	0.383000													15	35					1.02788e-11	1.09553e-11	0.033300	1	0
ULK4	54986	broad.mit.edu	37	3	41973352	41973352	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:41973352C>T	ENST00000301831.4	-	5	987	c.525G>A	c.(523-525)atG>atA	p.M175I	ULK4_ENST00000420927.1_Missense_Mutation_p.M175I	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	175	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCTACTTTTCATGCTTTTCT	0.423000													22	185					0	0	0.055883	0	0
SPATC1	375686	broad.mit.edu	37	8	145096263	145096263	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:145096263G>C	ENST00000377470.3	+	4	1539	c.1437G>C	c.(1435-1437)aaG>aaC	p.K479N	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	479										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCAGAGAAGATCATCCAGG	0.632000													6	25					0	0	0.029380	0	0
FNDC3A	22862	broad.mit.edu	37	13	49771891	49771891	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr13:49771891G>A	ENST00000492622.2	+	21	2676	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	FNDC3A_ENST00000541916.1_Missense_Mutation_p.E791K|FNDC3A_ENST00000398316.3_Missense_Mutation_p.E735K	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	791	Fibronectin type-III 6.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AGATGTCACTGAATATCGACT	0.388000													21	73					0	0	0.012319	0	0
FANCM	57697	broad.mit.edu	37	14	45644452	45644452	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:45644452C>G	ENST00000267430.5	+	14	2580	c.2495C>G	c.(2494-2496)tCt>tGt	p.S832C	FANCM_ENST00000542564.2_Missense_Mutation_p.S806C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	832					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GTGATAGAATCTGATGAAGAA	0.294000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	33					0	0	0.006214	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702178	187702178	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:187702178C>G	ENST00000295131.2	-	5	637	c.598G>C	c.(598-600)Gag>Cag	p.E200Q		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	200					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GGTGCAAACTCTTTCCTGCAC	0.383000													10	85					0	0	0.006214	0	0
CEP19	84984	broad.mit.edu	37	3	196434703	196434703	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:196434703C>T	ENST00000409690.3	-	3	645	c.223G>A	c.(223-225)Gag>Aag	p.E75K	CEP19_ENST00000399942.4_Missense_Mutation_p.E36K	NM_032898.3	NP_116287.2	Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	71						centriole|spindle pole		p.E71Q(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						AATAGCTTCTCTAGCTGCCTC	0.438000													32	155					0	0	0.045705	0	0
IFNGR1	3459	broad.mit.edu	37	6	137527279	137527279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:137527279G>A	ENST00000367739.4	-	3	488	c.367C>T	c.(367-369)Cga>Tga	p.R123*	IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.R95*|IFNGR1_ENST00000367735.2_Nonsense_Mutation_p.R113*	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	123					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TCACCATCTCGGCATACAGCA	0.348000													14	76					0	0	0.024245	0	0
NCS1	23413	broad.mit.edu	37	9	132984969	132984969	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:132984969C>G	ENST00000372398.3	+	5	434	c.348C>G	c.(346-348)atC>atG	p.I116M	NCS1_ENST00000458469.1_Missense_Mutation_p.I98M	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	116	EF-hand 3.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						ATGGCTACATCACCAGGAATG	0.562000													11	57					0	0	0.008291	0	0
COL4A3	1285	broad.mit.edu	37	2	228109061	228109061	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:228109061C>T	ENST00000396578.3	+	4	422	c.260C>T	c.(259-261)aCg>aTg	p.T87M	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	87	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCAGGACTCACGGGTTCCAAA	0.403000													13	73					0	0	0.013537	0	0
RDH8	50700	broad.mit.edu	37	19	10132365	10132365	+	Silent	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:10132365C>G	ENST00000591589.1	+	6	1125	c.936C>G	c.(934-936)ctC>ctG	p.L312L	RDH8_ENST00000171214.1_Silent_p.L292L			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	292					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CACGCCTCCTCAACCTTGGCC	0.612000													6	37					0	0	0.021553	0	0
IGSF1	3547	broad.mit.edu	37	X	130410218	130410218	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:130410218G>A	ENST00000370904.1	-	21	3496	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Silent_p.F876F|IGSF1_ENST00000370910.1_Silent_p.F862F|IGSF1_ENST00000361420.3_Silent_p.F871F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	871	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTTTGGGGTAGAATTCTGAAA	0.473000													11	20					0	0	0.010729	0	0
ATAD5	79915	broad.mit.edu	37	17	29164285	29164285	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29164285G>A	ENST00000321990.4	+	3	2407	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	677					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				caaaagatctgagaaaTCTGA	0.289000													11	51					0	0	0.008291	0	0
SOGA2	23255	broad.mit.edu	37	18	8796233	8796233	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr18:8796233G>C	ENST00000359865.3	+	9	2156	c.2014G>C	c.(2014-2016)Gag>Cag	p.E672Q	SOGA2_ENST00000518815.1_5'UTR|SOGA2_ENST00000306329.11_Missense_Mutation_p.E991Q|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.E631Q|SOGA2_ENST00000400050.3_Missense_Mutation_p.E631Q	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	982																	ATTCAAGATGGAGGAGGAGCA	0.498000													10	87					0	0	0.010729	0	0
EXOC4	60412	broad.mit.edu	37	7	133041328	133041328	+	Splice_Site	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:133041328G>A	ENST00000253861.4	+	6	1036		c.e6+1		EXOC4_ENST00000539845.1_Splice_Site|EXOC4_ENST00000393161.2_Splice_Site	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4						vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACCAACCAAGGTAGGTGGGAG	0.448000													3	32					0	0	0.004672	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76967746	76967746	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:76967746G>A	ENST00000262776.3	-	6	1978	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	557					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	p.S557F(2)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGGGAAGGAGGAGGTGCTCTT	0.632000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	55					0	0	0.009096	0	0
ABCD2	225	broad.mit.edu	37	12	39967597	39967597	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:39967597C>T	ENST00000308666.3	-	9	2059	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	642	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CCTTCGACATCAATGCTGACA	0.353000													7	71					0	0	0.029380	0	0
DNM1L	10059	broad.mit.edu	37	12	32873662	32873662	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:32873662C>G	ENST00000452533.2	+	8	969	c.805C>G	c.(805-807)Ctt>Gtt	p.L269V	DNM1L_ENST00000381000.4_Missense_Mutation_p.L282V|DNM1L_ENST00000358214.5_Missense_Mutation_p.L282V|DNM1L_ENST00000549701.1_Missense_Mutation_p.L269V|DNM1L_ENST00000414834.2_Missense_Mutation_p.L66V|DNM1L_ENST00000553257.1_Missense_Mutation_p.L282V|DNM1L_ENST00000547312.1_Missense_Mutation_p.L269V|DNM1L_ENST00000266481.6_Missense_Mutation_p.L269V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	269	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTATGCTTTTCTTCAAAAGAA	0.343000													11	61					0	0	0.008291	0	0
FZD8	8325	broad.mit.edu	37	10	35929113	35929113	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:35929113C>T	ENST00000374694.1	-	1	1249	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	415					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.V415V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GCGACAAGATCACCCACCAGA	0.632000													10	38					0	0	0.008291	0	0
NELFB	25920	broad.mit.edu	37	9	140150496	140150496	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:140150496C>G	ENST00000343053.4	+	2	577	c.240C>G	c.(238-240)atC>atG	p.I80M		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		TGTCAGCCATCGCTTCGGAGG	0.642000													14	81					0	0	0.016723	0	0
ATAD5	79915	broad.mit.edu	37	17	29162420	29162420	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29162420G>A	ENST00000321990.4	+	2	1699	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	441					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGAAGAGATGATAATTCTAA	0.323000													10	63					0	0	0.008291	0	0
WDR53	348793	broad.mit.edu	37	3	196288299	196288299	+	Silent	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:196288299C>G	ENST00000332629.5	-	3	615	c.48G>C	c.(46-48)ctG>ctC	p.L16L	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	16										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TACTTGCATTCAGGCAGAGGA	0.532000													9	45					0	0	0.047766	0	0
DNAJC1	64215	broad.mit.edu	37	10	22209807	22209807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:22209807C>A	ENST00000376980.3	-	4	747	c.457G>T	c.(457-459)Gag>Tag	p.E153*	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	153					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AATGCCAGCTCAGCATTGCTC	0.398000													12	63					0.000978159	0.00100231	0.010729	1	0
WDSUB1	151525	broad.mit.edu	37	2	160092614	160092614	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:160092614G>A	ENST00000409990.3	-	11	1617	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	WDSUB1_ENST00000359774.4_Missense_Mutation_p.S454L|WDSUB1_ENST00000409124.1_Missense_Mutation_p.S407L|WDSUB1_ENST00000392796.3_Missense_Mutation_p.S454L|WDSUB1_ENST00000358147.4_Missense_Mutation_p.S362L	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	454	U-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						AAGTACCGCTGAAGGAAGAAC	0.333000													10	36					0	0	0.008291	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391123	139391123	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:139391123G>A	ENST00000277541.6	-	34	7143	c.7068C>T	c.(7066-7068)gcC>gcT	p.A2356A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2356					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACAGGGCGCTGGCAGCAAGGC	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			10	62					0	0	0.008291	0	0
SBNO1	55206	broad.mit.edu	37	12	123810101	123810101	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:123810101C>T	ENST00000420886.2	-	14	1920	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	SBNO1_ENST00000602750.1_Missense_Mutation_p.E640K|SBNO1_ENST00000602398.1_Missense_Mutation_p.E641K|SBNO1_ENST00000267176.4_Missense_Mutation_p.E640K	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	641							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCCAAAGCTTCTAATGTTCTA	0.343000													31	204					0	0	0.054565	0	0
PHRF1	57661	broad.mit.edu	37	11	587351	587351	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:587351G>A	ENST00000264555.5	+	4	435	c.307G>A	c.(307-309)Gat>Aat	p.D103N	PHRF1_ENST00000533464.1_Missense_Mutation_p.D99N|PHRF1_ENST00000416188.2_Missense_Mutation_p.D103N|PHRF1_ENST00000413872.2_Missense_Mutation_p.D102N	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	103							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAATTCTGATGATGATGCAGA	0.557000													10	36					0	0	0.013537	0	0
FMN1	342184	broad.mit.edu	37	15	33359906	33359906	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:33359906G>A	ENST00000334528.9	-	1	179	c.180C>T	c.(178-180)ttC>ttT	p.F60F	FMN1_ENST00000558197.1_Silent_p.F60F|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTAAACTATGGAATGCTTTCA	0.453000													10	71					0	0	0.008291	0	0
SCN3A	6328	broad.mit.edu	37	2	166011139	166011139	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:166011139C>T	ENST00000360093.3	-	11	1694	c.1203G>A	c.(1201-1203)atG>atA	p.M401I	SCN3A_ENST00000283254.7_Missense_Mutation_p.M401I|SCN3A_ENST00000409101.3_Missense_Mutation_p.M401I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	401				M -> T (in Ref. 4; AAC29514/AAC29515).		voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAAAAAATATCATGTATGTTT	0.413000													17	65					0	0	0.033300	0	0
RAB6B	51560	broad.mit.edu	37	3	133553479	133553479	+	Nonsense_Mutation	SNP	G	G	A	rs147187493		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:133553479G>A	ENST00000285208.4	-	7	851	c.502C>T	c.(502-504)Cga>Tga	p.R168*	RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Nonsense_Mutation_p.R168*|RAB6B_ENST00000486858.1_Nonsense_Mutation_p.R155*	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	168					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GCCACACGTCGAAAAAGCTGG	0.522000													16	70					0	0	0.028581	0	0
VPS41	27072	broad.mit.edu	37	7	38796440	38796440	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:38796440C>G	ENST00000310301.4	-	19	1747	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E540Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	565					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CACATTACCTCTGAATCAAAA	0.269000													3	20					0	0	0.004672	0	0
ETF1	2107	broad.mit.edu	37	5	137847221	137847221	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:137847221C>G	ENST00000499810.2	-	7	1154	c.706G>C	c.(706-708)Gag>Cag	p.E236Q	ETF1_ENST00000360541.5_Missense_Mutation_p.E269Q|ETF1_ENST00000503014.1_Missense_Mutation_p.E255Q			P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	269					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTAGATAACTCAATAGCTTGG	0.303000													8	41					0	0	0.038147	0	0
WNK1	65125	broad.mit.edu	37	12	996423	996423	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:996423C>T	ENST00000537687.1	+	20	6740	c.6097C>T	c.(6097-6099)Cta>Tta	p.L2033L	WNK1_ENST00000340908.4_Silent_p.L1366L|WNK1_ENST00000535572.1_Silent_p.L1526L|WNK1_ENST00000530271.2_Silent_p.L2271L|WNK1_ENST00000315939.6_Silent_p.L1773L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1773					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGCAGGTACTCTACCCAGCGA	0.483000													16	102					0	0	0.038395	0	0
UHRF1	29128	broad.mit.edu	37	19	4929378	4929378	+	RNA	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:4929378G>C	ENST00000592666.1	+	0	874							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CTGCTGCCTGGGCCAGAGTGA	0.657000													6	26					0	0	0.029380	0	0
TGM5	9333	broad.mit.edu	37	15	43552604	43552604	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:43552604C>G	ENST00000220420.5	-	2	191	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	TGM5_ENST00000349114.4_Missense_Mutation_p.E62Q	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	62					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TTACCAGTTTCAACCACGAAG	0.597000													5	49					0	0	0.014758	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188118	72188118	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:72188118C>G	ENST00000537465.1	-	4	564	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q	PMFBP1_ENST00000237353.10_Missense_Mutation_p.E136Q|PMFBP1_ENST00000355636.6_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	136										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ACCTCATCTTCTTTCAGTTTG	0.463000													19	99					0	0	0.043863	0	0
PTK7	5754	broad.mit.edu	37	6	43098331	43098331	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:43098331C>T	ENST00000230419.4	+	5	965	c.744C>T	c.(742-744)ttC>ttT	p.F248F	PTK7_ENST00000352931.2_Silent_p.F248F|PTK7_ENST00000349241.2_Silent_p.F248F|PTK7_ENST00000345201.2_Silent_p.F248F|PTK7_ENST00000471863.1_Silent_p.F248F|PTK7_ENST00000481273.1_Silent_p.F256F	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	248	Ig-like C2-type 3.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ATTGCCAGTTCTCAGCCCAGC	0.582000													3	33					0	0	0.004672	0	0
MYT1L	23040	broad.mit.edu	37	2	1914020	1914020	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:1914020G>A	ENST00000399161.2	-	13	2556	c.1809C>T	c.(1807-1809)cgC>cgT	p.R603R	MYT1L_ENST00000428368.2_Silent_p.R601R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	603					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCTGAGCACGCGGTCCGAGG	0.637000													5	37					0	0	0.014758	0	0
BAI2	576	broad.mit.edu	37	1	32210323	32210323	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:32210323G>A	ENST00000373658.3	-	5	1189	c.848C>T	c.(847-849)cCg>cTg	p.P283L	BAI2_ENST00000373655.2_Missense_Mutation_p.P283L|BAI2_ENST00000398547.1_Missense_Mutation_p.P271L|BAI2_ENST00000398556.3_Missense_Mutation_p.P286L|BAI2_ENST00000527361.1_Missense_Mutation_p.P283L|BAI2_ENST00000440175.2_5'UTR|BAI2_ENST00000257070.4_Missense_Mutation_p.P283L|BAI2_ENST00000398538.1_Missense_Mutation_p.P271L|BAI2_ENST00000398542.1_Missense_Mutation_p.P271L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	283					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TTCCTCTTCCGGCTCCTCACC	0.612000													6	39					0	0	0.038147	0	0
DUSP19	142679	broad.mit.edu	37	2	183960237	183960237	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:183960237G>A	ENST00000354221.4	+	4	680	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	DUSP19_ENST00000342619.6_Missense_Mutation_p.E118K|DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000444562.1_RNA|AC064871.3_ENST00000413954.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	169	Tyrosine-protein phosphatase.				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						GATGAATTCTGAACAAACCTC	0.388000													19	130					0	0	0.016522	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68131668	68131668	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:68131668C>T	ENST00000262215.3	-	30	4725	c.4336G>A	c.(4336-4338)Gag>Aag	p.E1446K	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.E900K|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.E284K	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1446					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			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)			CCTCTTACCTCTGTCTGTTGT	0.308000													3	36					0	0	0.009096	0	0
VPS13B	157680	broad.mit.edu	37	8	100147838	100147838	+	Silent	SNP	C	C	T	rs141324814	byFrequency	TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:100147838C>T	ENST00000395996.1	+	11	1551	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	VPS13B_ENST00000357162.2_Silent_p.F480F|VPS13B_ENST00000355155.1_Silent_p.F480F|VPS13B_ENST00000358544.2_Silent_p.F480F			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	480					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGTTTCTTCATTTGTGGTG	0.333000													6	39					0	0	0.038147	0	0
FCRL3	115352	broad.mit.edu	37	1	157665912	157665912	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:157665912C>G	ENST00000368184.3	-	7	1341	c.1050G>C	c.(1048-1050)gaG>gaC	p.E350D	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.E350D	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	350	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGCATCACTCTCCTTCACGG	0.512000													9	64					0	0	0.047766	0	0
ANK3	288	broad.mit.edu	37	10	61819457	61819457	+	Splice_Site	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:61819457C>G	ENST00000373827.2	-	40	5216	c.5047_splice	c.e40+1	p.L1682_splice	ANK3_ENST00000503366.1_Splice_Site_p.L1689_splice|ANK3_ENST00000355288.2_Splice_Site_p.L822_splice|ANK3_ENST00000280772.1_Intron|RP11-388P9.2_ENST00000414383.1_RNA	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3760	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GATACTCACTCAGACATACAT	0.458000													16	126					0	0	0.033300	0	0
FCRL3	115352	broad.mit.edu	37	1	157648586	157648586	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:157648586C>T	ENST00000368184.3	-	15	2410	c.2119G>A	c.(2119-2121)Gct>Act	p.A707T	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.A707T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	707						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGCTGCTAGCCTCCCCTGCA	0.468000													12	56					0	0	0.010729	0	0
SRCIN1	80725	broad.mit.edu	37	17	36704826	36704826	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:36704826C>T	ENST00000264659.7	-	17	3461	c.3237G>A	c.(3235-3237)gaG>gaA	p.E1079E	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Silent_p.E1113E	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	951					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CCTCGTCATCCTCGTCCTTGA	0.667000													11	59					0	0	0.016723	0	0
SPSB1	80176	broad.mit.edu	37	1	9427562	9427562	+	Silent	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:9427562G>C	ENST00000328089.6	+	3	1091	c.750G>C	c.(748-750)ggG>ggC	p.G250G	SPSB1_ENST00000357898.3_Silent_p.G250G|SPSB1_ENST00000377399.2_Silent_p.G250G	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	250	SOCS box.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCCCTGGGGAGGGAGCGCC	0.672000													13	46					0	0	0.016723	0	0
ZMYM1	79830	broad.mit.edu	37	1	35578687	35578687	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:35578687C>T	ENST00000373330.1	+	11	1430	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	ZMYM1_ENST00000359858.4_Missense_Mutation_p.S419F|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	419	Ser-rich.					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCAATTGGTTCCAGTACAGAA	0.368000													6	27					0	0	0.029380	0	0
CLTA	1211	broad.mit.edu	37	9	36211652	36211652	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:36211652G>A	ENST00000433436.2	+	7	829	c.628G>A	c.(628-630)Gag>Aag	p.E210K	CLTA_ENST00000470744.1_Missense_Mutation_p.E192K|CLTA_ENST00000242285.6_Missense_Mutation_p.E210K|CLTA_ENST00000466396.1_Missense_Mutation_p.E158K|CLTA_ENST00000345519.5_Missense_Mutation_p.E180K|CLTA_ENST00000538225.1_Missense_Mutation_p.E192K|CLTA_ENST00000396603.2_Missense_Mutation_p.E198K|CLTA_ENST00000540080.1_Missense_Mutation_p.E128K	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	clathrin, light chain A	210					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			CCCAGGCACTGAGTGGGAACG	0.527000													14	115					0	0	0.020292	0	0
GDNF	2668	broad.mit.edu	37	5	37815932	37815932	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:37815932C>G	ENST00000326524.2	-	3	656	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	GDNF_ENST00000427982.1_Missense_Mutation_p.E170Q|GDNF_ENST00000515058.1_Missense_Mutation_p.E127Q|GDNF_ENST00000344622.4_Missense_Mutation_p.E127Q|GDNF_ENST00000381826.4_Missense_Mutation_p.E144Q	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	153					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					TACGTTGTCTCAGCTGCATCG	0.443000													10	86					0	0	0.006214	0	0
AADAC	13	broad.mit.edu	37	3	151545802	151545802	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:151545802G>A	ENST00000232892.6	+	5	1168	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	348					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTAAGAGATGATGGACTCAT	0.468000													13	87					0	0	0.024245	0	0
ABCC6	368	broad.mit.edu	37	16	16286777	16286777	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:16286777G>A	ENST00000205557.7	-	11	1370	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	447	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGGGCCCCAGGAGCTGGGGAT	0.562000													14	59					0	0	0.024245	0	0
E2F6	1876	broad.mit.edu	37	2	11605933	11605933	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:11605933G>A	ENST00000381525.3	-	1	342	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	E2F6_ENST00000362009.4_Missense_Mutation_p.R25W|E2F6_ENST00000307236.4_5'UTR|AC099344.1_ENST00000598929.1_Intron|E2F6_ENST00000546212.1_5'UTR|E2F6_ENST00000542100.1_5'UTR	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	25					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TCTCGGCACCGACGGCGAACC	0.716000													5	7					0	0	0.021553	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664032	169664032	+	RNA	SNP	G	G	A	rs73042022	by1000genomes	TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:169664032G>A	ENST00000483289.2	-	0	3262				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						CCCAAGATGCGATGGCCTTGT	0.502000													14	78					0	0	0.020292	0	0
KCNH3	23416	broad.mit.edu	37	12	49944103	49944103	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:49944103G>A	ENST00000257981.6	+	10	2169	c.1909G>A	c.(1909-1911)Gcc>Acc	p.A637T		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	637					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CACCGTGCTCGCCATCCTAGG	0.622000													10	56					0	0	0.006214	0	0
RGS16	6004	broad.mit.edu	37	1	182569610	182569610	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:182569610C>T	ENST00000367558.5	-	5	574	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	142	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						TCTGCAGGTTCATCCTCGTCA	0.592000													10	64					0	0	0.008291	0	0
VPS13B	157680	broad.mit.edu	37	8	100523503	100523503	+	Nonsense_Mutation	SNP	G	G	T	rs120074151		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:100523503G>T	ENST00000358544.2	+	29	4582	c.4471G>T	c.(4471-4473)Gaa>Taa	p.E1491*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.E1466*|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1491					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTCTTCATGAAATTCTTCT	0.333000													12	62					0.000978159	0.00100231	0.010729	1	0
CLSTN2	64084	broad.mit.edu	37	3	140277609	140277609	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:140277609G>C	ENST00000458420.3	+	12	2141	c.1951G>C	c.(1951-1953)Gaa>Caa	p.E651Q		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	651					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCCCAGTTTGAAAGTGCCAG	0.582000										HNSCC(16;0.037)			8	50					0	0	0.038147	0	0
PIDD	55367	broad.mit.edu	37	11	801315	801315	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:801315C>G	ENST00000347755.5	-	9	1674	c.1533G>C	c.(1531-1533)gaG>gaC	p.E511D	PIDD_ENST00000411829.2_Missense_Mutation_p.E511D	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	511	ZU5 2.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										TCACTGCAGCCTCTGGTTCTC	0.697000													5	14					0	0	0.021553	0	0
COL17A1	1308	broad.mit.edu	37	10	105819884	105819884	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:105819884G>A	ENST00000353479.5	-	14	1424	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	COL17A1_ENST00000393211.3_Silent_p.I378I|COL17A1_ENST00000369733.3_Silent_p.I378I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	378	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CACTTGCAGCGATGCTGGCAG	0.517000													9	67					0	0	0.047766	0	0
SOCS5	9655	broad.mit.edu	37	2	46986106	46986106	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:46986106G>A	ENST00000306503.5	+	2	609	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	SOCS5_ENST00000394861.2_Missense_Mutation_p.R146Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	146					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGTAGAACTCGAAGTGGACTT	0.468000													16	67					0	0	0.024245	0	0
GPR98	84059	broad.mit.edu	37	5	90041440	90041440	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:90041440G>C	ENST00000405460.2	+	52	10898	c.10802G>C	c.(10801-10803)aGa>aCa	p.R3601T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3601	Calx-beta 23.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTGGTGAGAGAGAAGCTACA	0.333000													12	56					0	0	0.020292	0	0
ZNF750	79755	broad.mit.edu	37	17	80790150	80790150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:80790150G>A	ENST00000269394.3	-	2	1014	c.181C>T	c.(181-183)Cga>Tga	p.R61*	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	61						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTGGGAACTCGATCCTGCTCT	0.448000													15	63					0	0	0.024245	0	0
DYRK4	8798	broad.mit.edu	37	12	4721834	4721834	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:4721834C>T	ENST00000540757.2	+	12	1431	c.1271C>T	c.(1270-1272)tCt>tTt	p.S424F	DYRK4_ENST00000543431.1_Missense_Mutation_p.S424F|DYRK4_ENST00000010132.5_Missense_Mutation_p.S424F|DYRK4_ENST00000545342.1_Missense_Mutation_p.S61F	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	424						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTTTTCCCCTCTGAGACAAGG	0.522000													17	102					0	0	0.038395	0	0
SLC22A4	6583	broad.mit.edu	37	5	131679482	131679482	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:131679482C>T	ENST00000200652.3	+	10	1784	c.1610C>T	c.(1609-1611)tCa>tTa	p.S537L	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	537					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ACAAGAGACTCAATGGAGACA	0.343000													6	26					0	0	0.021553	0	0
LRPPRC	10128	broad.mit.edu	37	2	44116941	44116941	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:44116941G>C	ENST00000260665.7	-	37	4117	c.4060C>G	c.(4060-4062)Ctg>Gtg	p.L1354V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1354	RNA-binding.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTAGAAACAGATCATCCAAT	0.358000													11	74					0	0	0.010729	0	0
RNF2	6045	broad.mit.edu	37	1	185062311	185062311	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:185062311C>T	ENST00000367510.3	+	4	655	c.367C>T	c.(367-369)Cat>Tat	p.H123Y	RNF2_ENST00000367509.4_Intron	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	123	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GTATGAAGCTCATCAAGAGAG	0.423000													6	44					0	0	0.021553	0	0
FAM181A	90050	broad.mit.edu	37	14	94394757	94394757	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:94394757G>A	ENST00000267594.5	+	3	619	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FAM181A_ENST00000557719.1_Silent_p.Q42Q|FAM181A_ENST00000557000.2_Silent_p.Q42Q|FAM181A_ENST00000556222.1_Silent_p.Q42Q	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	104										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGTACCTGCAGAAGCAGCTCA	0.632000													5	22					0	0	0.038147	0	0
TLL2	7093	broad.mit.edu	37	10	98133495	98133495	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:98133495C>T	ENST00000357947.3	-	19	2745	c.2520G>A	c.(2518-2520)ccG>ccA	p.P840P		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	840	CUB 4.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCAGGCTGTCCGGCCCGTCAT	0.542000													11	61					0	0	0.016723	0	0
MAST4	375449	broad.mit.edu	37	5	66460113	66460113	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:66460113C>T	ENST00000404260.3	+	29	5423	c.5115C>T	c.(5113-5115)ctC>ctT	p.L1705L	MAST4_ENST00000403666.1_Silent_p.L1513L|MAST4_ENST00000261569.7_Silent_p.L1508L|MAST4_ENST00000403625.2_Silent_p.L1702L|MAST4_ENST00000405643.1_Silent_p.L1523L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1705						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGGACAACCTCTGCCCTGTGC	0.577000													7	24					0	0	0.038147	0	0
CCBE1	147372	broad.mit.edu	37	18	57363888	57363888	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr18:57363888G>C	ENST00000439986.4	-	2	222	c.185C>G	c.(184-186)tCt>tGt	p.S62C	RP11-2N1.2_ENST00000588946.1_RNA	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	62					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTCGCCTGAAGACTTCAGACA	0.572000											OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	117					0	0	0.020292	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47649614	47649614	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:47649614G>C	ENST00000371917.4	+	39	5236	c.5236G>C	c.(5236-5238)Gac>Cac	p.D1746H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1746					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TATGCAGTTTGACCTGATCCC	0.418000													9	57					0	0	0.047766	0	0
ABCB11	8647	broad.mit.edu	37	2	169869909	169869909	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:169869909C>G	ENST00000263817.6	-	5	386	c.262G>C	c.(262-264)Gat>Cat	p.D88H		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	88	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATAAAAACATCTGTCATTGTG	0.423000													34	192					0	0	0.045705	0	0
ABCG2	9429	broad.mit.edu	37	4	89052248	89052248	+	Missense_Mutation	SNP	G	G	C	rs1061017		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:89052248G>C	ENST00000237612.3	-	5	1041	c.496C>G	c.(496-498)Caa>Gaa	p.Q166E	ABCG2_ENST00000515655.1_Missense_Mutation_p.Q166E	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	166	ABC transporter.		Q -> E (in dbSNP:rs1061017).		cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CCTAACTCTTGAATGACCCTG	0.418000													27	161					0	0	0.015359	0	0
DUSP27	92235	broad.mit.edu	37	1	167095830	167095830	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:167095830G>C	ENST00000361200.2	+	6	1628	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E488Q|DUSP27_ENST00000443333.1_Missense_Mutation_p.E488Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	488					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCTGGAGATTGAGAAGGAGGC	0.647000													7	27					0	0	0.047766	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													6	37					0	0	0.038147	0	0
TAS2R50	259296	broad.mit.edu	37	12	11138872	11138872	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:11138872C>T	ENST00000506868.1	-	1	639	c.588G>A	c.(586-588)ctG>ctA	p.L196L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	196					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						AGATTAGCATCAGAAAAGATA	0.408000													23	132					0	0	0.012319	0	0
DLG5	9231	broad.mit.edu	37	10	79614066	79614066	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:79614066G>A	ENST00000372391.2	-	4	604	c.599C>T	c.(598-600)tCg>tTg	p.S200L	DLG5_ENST00000372388.2_Missense_Mutation_p.S200L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	200					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGCAGGTCCGACATGGCTCG	0.597000													8	33					0	0	0.006214	0	0
CAPN15	6650	broad.mit.edu	37	16	599044	599044	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:599044G>A	ENST00000219611.2	+	5	1864	c.1501G>A	c.(1501-1503)Ggc>Agc	p.G501S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		CGAGTCTGTCGGCTTCCCCGC	0.657000													31	90					0	0	0.054565	0	0
SNHG14	104472715	broad.mit.edu	37	15	25470286	25470286	+	RNA	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:25470286G>A	ENST00000453082.2	+	0	1054					NR_003343.1																						CTCCTGCACTGAGCTGTGGTG	0.562000													11	96					0	0	0.010729	0	0
FBXO21	23014	broad.mit.edu	37	12	117627050	117627050	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:117627050C>G	ENST00000427718.2	-	2	431	c.357G>C	c.(355-357)aaG>aaC	p.K119N	FBXO21_ENST00000330622.5_Missense_Mutation_p.K119N	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	119					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		AAAAGAACCTCTTTGAGAACG	0.488000													13	85					0	0	0.016723	0	0
DOK5	55816	broad.mit.edu	37	20	53208154	53208154	+	Splice_Site	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:53208154G>C	ENST00000262593.5	+	5	759		c.e5-1		DOK5_ENST00000395939.1_Splice_Site	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5								insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TTTTCTCCCAGAGAGATTCAA	0.368000													5	72					0	0	0.021553	0	0
ASXL3	80816	broad.mit.edu	37	18	31324832	31324832	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr18:31324832G>A	ENST00000269197.5	+	12	5020	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAACTTCACGAAGCAGACAA	0.478000													12	63					0	0	0.016723	0	0
LIMD2	80774	broad.mit.edu	37	17	61776232	61776232	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:61776232C>T	ENST00000259006.3	-	4	309	c.151G>A	c.(151-153)Gag>Aag	p.E51K	LIMD2_ENST00000582055.1_Missense_Mutation_p.E2K|LIMD2_ENST00000578402.1_Missense_Mutation_p.E51K|LIMD2_ENST00000583211.1_Missense_Mutation_p.E2K|LIMD2_ENST00000578061.1_Missense_Mutation_p.E51K|LIMD2_ENST00000578993.1_Intron	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	51	LIM zinc-binding.						zinc ion binding			kidney(1)|lung(2)	3						ACCAGCCGCTCCATGGGGTAC	0.657000													12	74					0	0	0.013537	0	0
RGL1	23179	broad.mit.edu	37	1	183853004	183853004	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:183853004C>T	ENST00000304685.3	+	7	1261	c.800C>T	c.(799-801)tCa>tTa	p.S267L	RGL1_ENST00000360851.3_Missense_Mutation_p.S232L|RGL1_ENST00000536277.1_Missense_Mutation_p.S230L|RGL1_ENST00000539189.1_Missense_Mutation_p.S232L|RGL1_ENST00000367531.1_Missense_Mutation_p.S267L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	232	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ACGTGCTTCTCAGAAGATCTC	0.483000													25	111					0	0	0.016522	0	0
TPCN1	53373	broad.mit.edu	37	12	113664628	113664628	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:113664628C>T	ENST00000550785.1	+	3	356	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	TPCN1_ENST00000335509.6_5'UTR|TPCN1_ENST00000541517.1_Missense_Mutation_p.H63Y	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	0						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCCTGGATATCATATCCTGAG	0.547000													6	23					0	0	0.021553	0	0
STAT2	6773	broad.mit.edu	37	12	56737683	56737683	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:56737683C>T	ENST00000314128.4	-	23	2362	c.2339G>A	c.(2338-2340)gGa>gAa	p.G780E	STAT2_ENST00000557235.1_Missense_Mutation_p.G776E|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	780					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGATACAGGTCCTTGGTCTGG	0.517000													7	159					0	0	0.047766	0	0
NKX2-5	1482	broad.mit.edu	37	5	172660137	172660137	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:172660137C>G	ENST00000329198.4	-	2	683	c.410G>C	c.(409-411)cGg>cCg	p.R137P	NKX2-5_ENST00000424406.2_3'UTR|NKX2-5_ENST00000521848.1_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	137					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTCCTCCGCCGTCGCGCCCG	0.692000													3	11					0	0	0.004672	0	0
UHRF2	115426	broad.mit.edu	37	9	6506134	6506134	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:6506134G>A	ENST00000276893.5	+	16	2532	c.2364G>A	c.(2362-2364)caG>caA	p.Q788Q	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	788					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AGATTCTGCAGACTCTACTTG	0.463000													5	100					0	0	0.014758	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045388	76045388	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:76045388G>A	ENST00000335749.4	+	3	814	c.245G>A	c.(244-246)aGa>aAa	p.R82K	TNRC6C_ENST00000541771.1_Missense_Mutation_p.R82K|TNRC6C_ENST00000544502.1_Missense_Mutation_p.R82K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.R82K|TNRC6C_ENST00000588061.1_Missense_Mutation_p.R82K|TNRC6C_ENST00000588847.1_Missense_Mutation_p.R82K	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	82	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGAGATGGGAGAAGTCAGAAT	0.522000													15	79					0	0	0.020292	0	0
RAD17	5884	broad.mit.edu	37	5	68669849	68669849	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:68669849G>C	ENST00000509734.1	+	4	913	c.235G>C	c.(235-237)Gaa>Caa	p.E79Q	RAD17_ENST00000354868.5_Missense_Mutation_p.E68Q|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000354312.3_Missense_Mutation_p.E68Q|RAD17_ENST00000380774.3_Missense_Mutation_p.E79Q|RAD17_ENST00000361732.2_Missense_Mutation_p.E68Q|RAD17_ENST00000345306.6_Missense_Mutation_p.E68Q|RAD17_ENST00000305138.4_Missense_Mutation_p.E68Q|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000358030.2_5'UTR			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	79					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTATGGTTTAGAAAATTCAAA	0.333000								Other conserved DNA damage response genes					8	77					0	0	0.038147	0	0
SAMD7	344658	broad.mit.edu	37	3	169644598	169644598	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:169644598G>A	ENST00000428432.2	+	6	937	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	SAMD7_ENST00000335556.3_Missense_Mutation_p.R183Q	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	183										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGATGTCGTCGACTCAGGAAA	0.478000													10	75					0	0	0.008291	0	0
FAM166A	401565	broad.mit.edu	37	9	140139845	140139845	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:140139845C>T	ENST00000344774.4	-	3	490	c.436G>A	c.(436-438)Gac>Aac	p.D146N	FAM166A_ENST00000388932.2_Missense_Mutation_p.D146N	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	146										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TCTCTGGAGTCTCCCTTCCTG	0.652000													7	74					0	0	0.006214	0	0
DSP	1832	broad.mit.edu	37	6	7559514	7559514	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:7559514C>G	ENST00000379802.3	+	4	819	c.478C>G	c.(478-480)Cga>Gga	p.R160G	DSP_ENST00000418664.2_Missense_Mutation_p.R160G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	160	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.R160G(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAGTGTCCCTCGAGTCCGCAG	0.507000													25	157					0	0	0.024334	0	0
MECOM	2122	broad.mit.edu	37	3	168834418	168834418	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:168834418G>C	ENST00000464456.1	-	7	1878	c.678C>G	c.(676-678)ttC>ttG	p.F226L	MECOM_ENST00000264674.3_Missense_Mutation_p.F291L|MECOM_ENST00000472280.1_Missense_Mutation_p.F227L|MECOM_ENST00000468789.1_Missense_Mutation_p.F226L|MECOM_ENST00000392736.3_Missense_Mutation_p.F226L|MECOM_ENST00000433243.2_Missense_Mutation_p.F227L|MECOM_ENST00000460814.1_Missense_Mutation_p.F226L|MECOM_ENST00000494292.1_Missense_Mutation_p.F414L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACGTAGTGCTGAACATTTGTC	0.438000													14	126					0	0	0.020292	0	0
LILRP2	79166	broad.mit.edu	37	19	55220731	55220731	+	RNA	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:55220731C>G	ENST00000413439.1	+	0	808																											GGTCGGCTCTCAAGGGCATCT	0.607000													3	21					0	0	0.009096	0	0
SOAT1	6646	broad.mit.edu	37	1	179311274	179311274	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:179311274C>T	ENST00000367619.3	+	8	949	c.806C>T	c.(805-807)tCa>tTa	p.S269L	SOAT1_ENST00000540564.1_Missense_Mutation_p.S211L|SOAT1_ENST00000539888.1_Missense_Mutation_p.S204L|SOAT1_ENST00000535686.1_Missense_Mutation_p.S5L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	269					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AAGGCCCACTCATTTGTCAGA	0.408000													14	52					0	0	0.024245	0	0
ETV5	2119	broad.mit.edu	37	3	185823423	185823423	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:185823423C>T	ENST00000306376.5	-	3	370	c.124G>A	c.(124-126)Gat>Aat	p.D42N	ETV5_ENST00000434744.1_Missense_Mutation_p.D42N|ETV5_ENST00000537818.1_Missense_Mutation_p.D84N	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	42					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CCTTCAGAATCGTGAGCCAGA	0.478000			T	"""TMPRSS2, SCL45A3"""	Prostate								9	106					0	0	0.047766	0	0
RNF150	57484	broad.mit.edu	37	4	142053860	142053860	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:142053860C>G	ENST00000306799.3	-	1	756	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	RNF150_ENST00000420921.2_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.E35Q|RNF150_ENST00000515673.1_Missense_Mutation_p.E35Q	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	35						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TCCTCCTTCTCGGCCACGGTA	0.647000													8	44					0	0	0.047766	0	0
SLC39A6	25800	broad.mit.edu	37	18	33689584	33689584	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr18:33689584T>A	ENST00000269187.5	-	10	2453	c.2240A>T	c.(2239-2241)cAt>cTt	p.H747L	SLC39A6_ENST00000590986.1_Missense_Mutation_p.H747L	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	747						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CACGATTTTATGTTCAAATAT	0.353000													21	118					0	0	0.055883	0	0
NCALD	83988	broad.mit.edu	37	8	102731491	102731491	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:102731491C>G	ENST00000395923.1	-	4	826	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	NCALD_ENST00000519508.2_Missense_Mutation_p.E123Q|NCALD_ENST00000311028.3_Missense_Mutation_p.E123Q|NCALD_ENST00000522951.1_Missense_Mutation_p.E123Q|NCALD_ENST00000521599.1_Missense_Mutation_p.E123Q|NCALD_ENST00000220931.6_Missense_Mutation_p.E123Q	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	123	EF-hand 3.			E -> V (in Ref. 2; CAB66547).	synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TGCACGATCTCTAGCATCTCT	0.493000													17	100					0	0	0.038395	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066763	18066763	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:18066763C>T	ENST00000506618.2	-	1	723	c.643G>A	c.(643-645)Gtg>Atg	p.V215M		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	215	Binding of phosphoribosylpyrophosphate (Potential).				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGGATAGCCACACGATCATTC	0.453000													23	99					0	0	0.014323	0	0
CREBBP	1387	broad.mit.edu	37	16	3830809	3830809	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:3830809G>A	ENST00000262367.5	-	8	2556	c.1747C>T	c.(1747-1749)Cct>Tct	p.P583S	CREBBP_ENST00000382070.3_Missense_Mutation_p.P545S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	583					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGCTAGAAGGAGGAGCTGCT	0.483000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						7	49					0	0	0.029380	0	0
SRCIN1	80725	broad.mit.edu	37	17	36704795	36704795	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:36704795C>G	ENST00000264659.7	-	17	3492	c.3268G>C	c.(3268-3270)Gag>Cag	p.E1090Q	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1124Q	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	962					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TGACCTACCTCTAGCTCTGCG	0.662000													11	58					0	0	0.010729	0	0
RLTPR	146206	broad.mit.edu	37	16	67680670	67680670	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:67680670C>T	ENST00000334583.6	+	7	848	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RLTPR_ENST00000545661.1_Nonsense_Mutation_p.R174*	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	174										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTTCCCTTTCCGAGAGGAGAT	0.582000													10	90					0	0	0.013537	0	0
USH1C	10083	broad.mit.edu	37	11	17531001	17531001	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:17531001C>G	ENST00000005226.7	-	18	1914	c.1915G>C	c.(1915-1917)Gac>Cac	p.D639H	USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTGCCTGTGTCCCCAGTGCGG	0.632000													12	61					0	0	0.013537	0	0
ATAD5	79915	broad.mit.edu	37	17	29161435	29161435	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29161435G>C	ENST00000321990.4	+	2	714	c.336G>C	c.(334-336)aaG>aaC	p.K112N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	112					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGTTTAAGAAGAAAAGAAAGA	0.338000													15	136					0	0	0.024245	0	0
LEF1	51176	broad.mit.edu	37	4	108969898	108969898	+	Missense_Mutation	SNP	C	C	A	rs148954807	by1000genomes	TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:108969898C>A	ENST00000379951.2	-	10	2279	c.1091G>T	c.(1090-1092)cGa>cTa	p.R364L	LEF1_ENST00000438313.2_3'UTR|LEF1_ENST00000265165.1_3'UTR|LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000510624.1_3'UTR	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	226					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GAATGAGCTTCGTTTTCCACC	0.453000													13	52					4.36969e-10	4.63494e-10	0.016723	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43846363	43846363	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:43846363G>A	ENST00000389420.3	-	13	1895	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	ADAMTS20_ENST00000553158.1_Silent_p.I632I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	632	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GAATGCCACTGATGTCCAAAT	0.388000													7	36					0	0	0.029380	0	0
C6orf165	154313	broad.mit.edu	37	6	88144769	88144769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:88144769C>T	ENST00000507897.1	+	11	1575	c.1492C>T	c.(1492-1494)Cag>Tag	p.Q498*	C6ORF165_ENST00000369562.4_Nonsense_Mutation_p.Q498*			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	498										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TCCATATTCTCAGGTAAGCAG	0.284000													6	56					0	0	0.029380	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4457189	4457189	+	Silent	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:4457189C>G	ENST00000254718.4	-	5	783	c.477G>C	c.(475-477)tcG>tcC	p.S159S	MYBBP1A_ENST00000381556.2_Silent_p.S159S			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	159	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCAGCTTCACCGACTTCATCA	0.627000													4	19					0	0	0.014758	0	0
LRIT1	26103	broad.mit.edu	37	10	85994045	85994045	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:85994045C>T	ENST00000372105.3	-	3	700	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	227	LRRCT.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGTTCAGTCTCAATGAAGGCC	0.582000													13	66					0	0	0.013537	0	0
SLC25A45	283130	broad.mit.edu	37	11	65147398	65147398	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:65147398C>G	ENST00000398802.1	-	4	296	c.93G>C	c.(91-93)caG>caC	p.Q31H	SLC25A45_ENST00000526432.1_Missense_Mutation_p.Q31H|SLC25A45_ENST00000417511.2_5'UTR|SLC25A45_ENST00000527174.1_Missense_Mutation_p.Q31H|SLC25A45_ENST00000377152.2_5'UTR|SLC25A45_ENST00000360662.3_Intron|SLC25A45_ENST00000294187.6_5'UTR|SLC25A45_ENST00000534028.1_Intron	NM_182556.2	NP_872362.2	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	31					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TGGTCTGGGTCTGCAGCCTCA	0.632000													6	38					0	0	0.029380	0	0
LRRC37B	114659	broad.mit.edu	37	17	30376174	30376174	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:30376174G>A	ENST00000327564.7	+	10	2579	c.2518G>A	c.(2518-2520)Gag>Aag	p.E840K	LRRC37B_ENST00000584368.1_Missense_Mutation_p.E774K|LRRC37B_ENST00000394713.3_Missense_Mutation_p.E762K|LRRC37B_ENST00000341671.7_Missense_Mutation_p.E813K|LRRC37B_ENST00000543378.2_Missense_Mutation_p.E731K			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	813						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CATCCCCAACGAGGATGTGAG	0.498000													22	105					0	0	0.037714	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184842	130184842	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:130184842C>T	ENST00000422113.2	-	2	807	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	161						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCTCCCCGGCGCTGCGGTCG	0.642000													3	22					0	0	0.009096	0	0
ALKBH1	8846	broad.mit.edu	37	14	78146284	78146284	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:78146284C>T	ENST00000216489.3	-	4	500	c.485G>A	c.(484-486)cGa>cAa	p.R162Q		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	162					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CAGTAAACTTCGGGGTCTCCG	0.398000													15	94					0	0	0.038395	0	0
BIRC6	57448	broad.mit.edu	37	2	32626362	32626362	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:32626362C>G	ENST00000421745.2	+	7	1300	c.1166C>G	c.(1165-1167)tCt>tGt	p.S389C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	389					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GACAGAATATCTTGCTTTGGG	0.453000													41	230					0	0	0.039052	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973455	46973455	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:46973455C>T	ENST00000313683.10	-	2	1143	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.E280K	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	280										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCCATGCTTTCAGCATCACCC	0.517000													27	151					0	0	0.030593	0	0
CASZ1	54897	broad.mit.edu	37	1	10702951	10702951	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:10702951G>A	ENST00000377022.3	-	20	4444	c.4127C>T	c.(4126-4128)tCc>tTc	p.S1376F	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGGGTGCTGGAGCAGCTCCG	0.667000													3	22					0	0	0.009096	0	0
TNIP2	79155	broad.mit.edu	37	4	2746559	2746559	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:2746559C>T	ENST00000510267.1	-	4	877	c.450G>A	c.(448-450)atG>atA	p.M150I	TNIP2_ENST00000315423.7_Missense_Mutation_p.M257I|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Intron	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	257						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCTCCTTCCTCATCAGCTCGG	0.612000													19	72					0	0	0.043863	0	0
QSOX1	5768	broad.mit.edu	37	1	180163447	180163447	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:180163447C>G	ENST00000367602.3	+	11	1462	c.1388C>G	c.(1387-1389)tCc>tGc	p.S463C	QSOX1_ENST00000367600.5_Missense_Mutation_p.S463C			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	463	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGCTGCCTCCATGCACCGG	0.627000													12	48					0	0	0.024245	0	0
SPTBN1	6711	broad.mit.edu	37	2	54876298	54876298	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:54876298G>A	ENST00000333896.5	+	24	5519	c.5134G>A	c.(5134-5136)Gaa>Aaa	p.E1712K	SPTBN1_ENST00000356805.4_Missense_Mutation_p.E1725K	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1725	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGGTCCCATGAACTGGGACA	0.552000													12	64					0	0	0.010729	0	0
PWP1	11137	broad.mit.edu	37	12	108091362	108091362	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:108091362G>C	ENST00000412830.3	+	7	900	c.732G>C	c.(730-732)aaG>aaC	p.K244N	PWP1_ENST00000541166.1_Missense_Mutation_p.K182N	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	244					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						AGAAGAAAAAGAAAGGAAAGA	0.378000													11	24					0	0	0.010729	0	0
AASDH	132949	broad.mit.edu	37	4	57244556	57244556	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:57244556G>A	ENST00000205214.6	-	4	606	c.426C>T	c.(424-426)ttC>ttT	p.F142F	AASDH_ENST00000451613.1_Silent_p.F142F|AASDH_ENST00000502617.1_Silent_p.F142F|AASDH_ENST00000513376.1_Silent_p.F42F|AASDH_ENST00000602986.1_5'UTR|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_Intron	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	142					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AGTGAAGTCTGAAGAGCACTA	0.313000													6	49					0	0	0.021553	0	0
NTM	50863	broad.mit.edu	37	11	131781512	131781512	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:131781512C>T	ENST00000374786.1	+	1	616	c.137C>T	c.(136-138)aCg>aTg	p.T46M	NTM_ENST00000539799.1_Missense_Mutation_p.T46M|NTM_ENST00000374791.3_Missense_Mutation_p.T46M|NTM_ENST00000374784.1_Missense_Mutation_p.T46M|NTM_ENST00000425719.2_Missense_Mutation_p.T46M|NTM_ENST00000427481.2_Missense_Mutation_p.T37M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	46	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GACAACGTGACGGTCCGGCAG	0.617000											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	84					0	0	0.014323	0	0
LBP	3929	broad.mit.edu	37	20	36992685	36992685	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr20:36992685C>T	ENST00000217407.2	+	7	870	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	237					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGAAGCCCCTCGGGCAACAGC	0.547000													9	37					0	0	0.047766	0	0
ATP13A4	84239	broad.mit.edu	37	3	193185238	193185238	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:193185238C>T	ENST00000342695.4	-	10	1303	c.981G>A	c.(979-981)aaG>aaA	p.K327K	ATP13A4_ENST00000392443.3_Silent_p.K327K|ATP13A4_ENST00000295548.3_Silent_p.K327K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	327					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGCTATCCATCTTGGGTAACG	0.478000													15	137					0	0	0.033300	0	0
ST13	6767	broad.mit.edu	37	22	41240869	41240869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:41240869G>A	ENST00000216218.3	-	4	770	c.289C>T	c.(289-291)Caa>Taa	p.Q97*		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	97							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CCCATTTCTTGAGGAGCATCA	0.408000													5	18					0	0	0.021553	0	0
PNMT	5409	broad.mit.edu	37	17	37826388	37826388	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:37826388G>C	ENST00000269582.2	+	3	913	c.595G>C	c.(595-597)Gac>Cac	p.D199H	PNMT_ENST00000394246.1_Missense_Mutation_p.D101H	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	199					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCGGGCCCTGGACCACATCAC	0.682000													6	40					0	0	0.029380	0	0
SRRM2	23524	broad.mit.edu	37	16	2811883	2811883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:2811883G>T	ENST00000301740.8	+	11	1903	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	452	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTCCCACCGAGAGATTTCTTC	0.547000													19	207					1.56452e-12	1.67286e-12	0.043863	1	0
PEMT	10400	broad.mit.edu	37	17	17409126	17409126	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:17409126G>A	ENST00000255389.5	-	7	763	c.690C>T	c.(688-690)tcC>tcT	p.S230S	PEMT_ENST00000395782.1_Silent_p.S193S|PEMT_ENST00000395783.1_Silent_p.S193S|PEMT_ENST00000435340.2_3'UTR|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000395781.2_3'UTR	NM_001267551.1|NM_148172.2	NP_001254480.1|NP_680477.1	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	193					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		TGTGGGACCCGGAGGCTTTCT	0.672000													4	22					0	0	0.009096	0	0
GPR114	221188	broad.mit.edu	37	16	57597888	57597888	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:57597888C>G	ENST00000340339.4	+	5	949	c.426C>G	c.(424-426)ttC>ttG	p.F142L	GPR114_ENST00000349457.3_Missense_Mutation_p.F142L|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	142					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CCCACTTTTTCAAGGTCAGTG	0.637000													11	70					0	0	0.013537	0	0
COPZ2	51226	broad.mit.edu	37	17	46111232	46111232	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:46111232C>T	ENST00000006101.4	-	4	258	c.259G>A	c.(259-261)Gag>Aag	p.E87K	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	89					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						CACTTACTCTCAGTCCGGCTG	0.483000													3	20					0	0	0.004672	0	0
ICOS	29851	broad.mit.edu	37	2	204820605	204820605	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:204820605C>T	ENST00000316386.6	+	2	372	c.305C>T	c.(304-306)tCt>tTt	p.S102F	ICOS_ENST00000435193.1_Missense_Mutation_p.S102F	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	102	Ig-like V-type.				immune response|T cell costimulation	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						TTGGACCATTCTCATGCCAAC	0.358000													9	69					0	0	0.006214	0	0
OR1L3	26735	broad.mit.edu	37	9	125438029	125438029	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:125438029G>A	ENST00000304820.2	+	1	715	c.621G>A	c.(619-621)gtG>gtA	p.V207V		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TGGCCTCTGTGATGGCTCCAT	0.453000													29	120					0	0	0.027356	0	0
DOK2	9046	broad.mit.edu	37	8	21767244	21767244	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:21767244G>A	ENST00000276420.4	-	5	1075	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	DOK2_ENST00000544659.1_Missense_Mutation_p.R119W	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	273	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCATGCGGCCGAGAGTAGGGG	0.682000													6	59					0	0	0.029380	0	0
PLOD2	5352	broad.mit.edu	37	3	145789109	145789109	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:145789109G>A	ENST00000282903.5	-	18	2127	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	PLOD2_ENST00000461497.1_Silent_p.F310F|PLOD2_ENST00000494950.1_Silent_p.F595F|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Silent_p.F629F	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	629	Fe2OG dioxygenase.				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTGGTGCAATGAACTCCCGGA	0.418000													9	77					0	0	0.006214	0	0
ATG9A	79065	broad.mit.edu	37	2	220085575	220085575	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:220085575C>T	ENST00000409618.1	-	15	2847	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	ATG9A_ENST00000396761.2_Missense_Mutation_p.R803Q|ATG9A_ENST00000361242.4_Missense_Mutation_p.R803Q|ATG9A_ENST00000409422.1_Missense_Mutation_p.R742Q			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	803					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGAGGCAGCCGAGAGAAATG	0.577000													11	44					0	0	0.010729	0	0
SPSB1	80176	broad.mit.edu	37	1	9427566	9427566	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:9427566G>A	ENST00000328089.6	+	3	1095	c.754G>A	c.(754-756)Gag>Aag	p.E252K	SPSB1_ENST00000357898.3_Missense_Mutation_p.E252K|SPSB1_ENST00000377399.2_Missense_Mutation_p.E252K	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	252	SOCS box.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGGGAGGGAGCGCCTGGG	0.672000													13	43					0	0	0.016723	0	0
FBXO46	23403	broad.mit.edu	37	19	46215859	46215859	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:46215859G>A	ENST00000317683.3	-	2	1028	c.895C>T	c.(895-897)Cga>Tga	p.R299*		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	299							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TCCTTGGCTCGGGCCCCAGGA	0.682000													4	16					0	0	0.009096	0	0
PPFIA3	8541	broad.mit.edu	37	19	49652886	49652886	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:49652886C>G	ENST00000334186.4	+	28	3786	c.3437C>G	c.(3436-3438)tCa>tGa	p.S1146*	PPFIA3_ENST00000602351.1_Nonsense_Mutation_p.S1137*	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1146						cell surface|cytoplasm	protein binding	p.S1146L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ACTCCCGACTCAGCTGAGATG	0.647000													3	40					0	0	0.004672	0	0
SLC30A8	169026	broad.mit.edu	37	8	118183390	118183390	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:118183390C>T	ENST00000427715.2	+	10	1234	c.800C>T	c.(799-801)tCa>tTa	p.S267L	SLC30A8_ENST00000456015.2_Missense_Mutation_p.S316L|SLC30A8_ENST00000519688.1_Missense_Mutation_p.S267L|SLC30A8_ENST00000521243.1_Missense_Mutation_p.S267L	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	316					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GTAATTCTCTCAGCTCATGTT	0.423000													15	85					0	0	0.033300	0	0
ATAD3C	219293	broad.mit.edu	37	1	1390860	1390860	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:1390860C>T	ENST00000378785.2	+	5	1394	c.399C>T	c.(397-399)ctC>ctT	p.L133L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	133							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCGGCTCCTCAGTCGACCCC	0.667000													8	21					0	0	0.038147	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208515	140208515	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:140208515C>G	ENST00000529310.1	+	1	953	c.839C>G	c.(838-840)tCt>tGt	p.S280C	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S280C|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCATATTCTTTTAATAGC	0.388000													20	92					0	0	0.012319	0	0
PSMB10	5699	broad.mit.edu	37	16	67969349	67969349	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:67969349C>T	ENST00000358514.4	-	6	869	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	CTC-479C5.12_ENST00000573493.1_Silent_p.*31*	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	178					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		AACCGGTCTTCTAGCACCGCC	0.647000													19	65					0	0	0.055883	0	0
NLK	51701	broad.mit.edu	37	17	26518200	26518200	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:26518200G>A	ENST00000407008.3	+	9	2108	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	464					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCCCAAATTTGATGACACTTT	0.428000													10	57					0	0	0.006214	0	0
CAMKMT	79823	broad.mit.edu	37	2	44970813	44970813	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:44970813G>A	ENST00000378494.3	+	8	720	c.676G>A	c.(676-678)Gac>Aac	p.D226N		NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	226						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						AGGACATTTTGACATTGTTAT	0.343000													7	26					0	0	0.006214	0	0
GIF	2694	broad.mit.edu	37	11	59604756	59604756	+	Silent	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:59604756G>C	ENST00000541311.1	-	6	921	c.687C>G	c.(685-687)ctC>ctG	p.L229L	GIF_ENST00000257248.2_Silent_p.L254L			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	254					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TAATCTCATTGAGTATCATAT	0.463000													13	53					0	0	0.020292	0	0
AFF3	3899	broad.mit.edu	37	2	100203693	100203693	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:100203693C>G	ENST00000317233.4	-	15	2749	c.2514G>C	c.(2512-2514)gaG>gaC	p.E838D	AFF3_ENST00000356421.2_Missense_Mutation_p.E863D|AFF3_ENST00000409579.1_Missense_Mutation_p.E863D|AFF3_ENST00000409236.1_Missense_Mutation_p.E838D	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	838					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGCTGTCTTTCTCTCCCTGGG	0.453000													32	148					0	0	0.015359	0	0
DCST1	149095	broad.mit.edu	37	1	155011959	155011959	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:155011959G>A	ENST00000295542.1	+	5	439	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	DCST1_ENST00000368419.2_Missense_Mutation_p.E115K|DCST1_ENST00000392480.1_Missense_Mutation_p.E115K|DCST1_ENST00000423025.2_Missense_Mutation_p.E90K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	115						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCTGGGCAAGGAAGGCAGGCT	0.612000													5	97					0	0	0.014758	0	0
DIRC2	84925	broad.mit.edu	37	3	122545833	122545833	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:122545833C>T	ENST00000261038.5	+	3	1022	c.624C>T	c.(622-624)ccC>ccT	p.P208P		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	208					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TTCCAGCTCCCAATGGGACAT	0.458000													22	125					0	0	0.016522	0	0
SOGA2	23255	broad.mit.edu	37	18	8796331	8796331	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr18:8796331G>C	ENST00000359865.3	+	9	2254	c.2112G>C	c.(2110-2112)aaG>aaC	p.K704N	SOGA2_ENST00000518815.1_Missense_Mutation_p.K19N|SOGA2_ENST00000306329.11_Missense_Mutation_p.K1023N|SOGA2_ENST00000306285.7_Missense_Mutation_p.K19N|SOGA2_ENST00000517570.1_Missense_Mutation_p.K663N|SOGA2_ENST00000400050.3_Missense_Mutation_p.K663N	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1014																	GTGATGAGAAGAATCTGATGC	0.522000													12	80					0	0	0.013537	0	0
LYST	1130	broad.mit.edu	37	1	235915332	235915332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:235915332G>A	ENST00000389794.3	-	27	7774	c.7600C>T	c.(7600-7602)Caa>Taa	p.Q2534*	LYST_ENST00000389793.2_Nonsense_Mutation_p.Q2534*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2534					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGCTATTTTGAAGATATCCA	0.343000													8	26					0	0	0.047766	0	0
HMGA2	8091	broad.mit.edu	37	12	66357047	66357047	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:66357047C>G	ENST00000403681.2	+	5	1445	c.305C>G	c.(304-306)tCa>tGa	p.S102*		NM_003483.4	NP_003474.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	102					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		GAGACATCCTCACAAGAGTCT	0.517000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								8	39					0	0	0.047766	0	0
KIAA0100	9703	broad.mit.edu	37	17	26943185	26943185	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:26943185C>T	ENST00000528896.2	-	37	6393	c.6319G>A	c.(6319-6321)Gag>Aag	p.E2107K	KIAA0100_ENST00000389003.3_Missense_Mutation_p.E1964K|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.E1964K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2107						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCAGCTCGCTCTTTCATCTTG	0.483000													4	56					0	0	0.009096	0	0
PARP8	79668	broad.mit.edu	37	5	50091252	50091252	+	Splice_Site	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:50091252G>A	ENST00000281631.5	+	12	1586		c.e12+1		PARP8_ENST00000511363.2_Splice_Site|PARP8_ENST00000514342.2_Splice_Site|PARP8_ENST00000505697.2_Splice_Site|PARP8_ENST00000505554.1_Splice_Site|PARP8_ENST00000514067.2_Splice_Site|PARP8_ENST00000503750.2_Splice_Site	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8							intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCAGCTTGCTGTGCGTAAATA	0.393000													10	53					0	0	0.008291	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138202334	138202334	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:138202334G>A	ENST00000237289.4	+	9	2317	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	751	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.E751K(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CCACCGGGGTGAGCCTGCCCC	0.647000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								5	64					0	0	0.038147	0	0
MAST4	375449	broad.mit.edu	37	5	66458527	66458527	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:66458527C>T	ENST00000404260.3	+	28	4195	c.3887C>T	c.(3886-3888)tCg>tTg	p.S1296L	MAST4_ENST00000403666.1_Missense_Mutation_p.S1104L|MAST4_ENST00000261569.7_Missense_Mutation_p.S1099L|MAST4_ENST00000403625.2_Missense_Mutation_p.S1293L|MAST4_ENST00000405643.1_Missense_Mutation_p.S1114L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1296	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCCTGTCATCGGGTGAGAGC	0.542000													11	86					0	0	0.010729	0	0
EPPK1	83481	broad.mit.edu	37	8	144941998	144941998	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:144941998G>A	ENST00000525985.1	-	2	5495	c.5424C>T	c.(5422-5424)gaC>gaT	p.D1808D				P58107	EPIPL_HUMAN	epiplakin 1	1808						cytoplasm|cytoskeleton	protein binding|structural molecule activity			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)			CCCGCTTCCTGTCCTCTGTGA	0.527000													16	71					0	0	0.028581	0	0
EYA4	2070	broad.mit.edu	37	6	133783787	133783787	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:133783787G>A	ENST00000367895.5	+	9	1073	c.609G>A	c.(607-609)aaG>aaA	p.K203K	EYA4_ENST00000355286.6_Silent_p.K180K|EYA4_ENST00000525849.1_Silent_p.K180K|EYA4_ENST00000355167.3_Silent_p.K203K|EYA4_ENST00000452339.2_Silent_p.K149K|EYA4_ENST00000431403.2_Silent_p.K203K|EYA4_ENST00000430974.2_Silent_p.K149K|EYA4_ENST00000531901.1_Silent_p.K203K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	203					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGCCATCAAGACAGAGAGTG	0.438000													9	56					0	0	0.047766	0	0
RNF113A	7737	broad.mit.edu	37	X	119005408	119005408	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:119005408C>T	ENST00000371442.2	-	1	383	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	57							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CGCTTCTTTTCCGGTCGAACC	0.602000													6	133					0	0	0.029380	0	0
KIF2C	11004	broad.mit.edu	37	1	45221866	45221866	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:45221866G>C	ENST00000372217.1	+	9	1123	c.772G>C	c.(772-774)Gac>Cac	p.D258H	KIF2C_ENST00000372222.3_Missense_Mutation_p.D199H|KIF2C_ENST00000372224.4_Missense_Mutation_p.D312H|KIF2C_ENST00000372218.4_Missense_Mutation_p.D271H|KIF2C_ENST00000493027.1_3'UTR			Q99661	KIF2C_HUMAN	kinesin family member 2C	312	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ATTCTGCTTTGACTTTGCATT	0.423000													28	143					0	0	0.027356	0	0
GRIA3	2892	broad.mit.edu	37	X	122537305	122537305	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:122537305G>A	ENST00000264357.5	+	9	1520	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	GRIA3_ENST00000542149.1_Missense_Mutation_p.D410N|GRIA3_ENST00000371251.1_Missense_Mutation_p.D410N|GRIA3_ENST00000371256.5_Missense_Mutation_p.D410N|GRIA3_ENST00000541091.1_Missense_Mutation_p.D394N	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	410					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GCCTTTCTCAGATCAGCAAAT	0.443000													58	97					0	0	0.048971	0	0
RBM26	64062	broad.mit.edu	37	13	79952987	79952987	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr13:79952987C>G	ENST00000438737.2	-	2	567	c.127G>C	c.(127-129)Gac>Cac	p.D43H	RBM26_ENST00000438724.1_Missense_Mutation_p.D43H|RBM26_ENST00000267229.7_Missense_Mutation_p.D43H			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	43					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCACTTTTGTCTTTCTTTACC	0.328000													4	27					0	0	0.029380	0	0
EP400	57634	broad.mit.edu	37	12	132498089	132498089	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:132498089C>T	ENST00000333577.4	+	19	3883	c.3774C>T	c.(3772-3774)ctC>ctT	p.L1258L	EP400_ENST00000330386.6_Silent_p.L1222L|EP400_ENST00000389561.2_Silent_p.L1222L|EP400_ENST00000332482.4_Silent_p.L1185L|EP400_ENST00000389562.2_Silent_p.L1221L			Q96L91	EP400_HUMAN	E1A binding protein p400	1258	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCTGGAGCTCTGGACCATGG	0.572000													13	86					0	0	0.016723	0	0
QARS	5859	broad.mit.edu	37	3	49136368	49136368	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:49136368G>C	ENST00000306125.6	-	19	2150	c.1813C>G	c.(1813-1815)Cag>Gag	p.Q605E	QARS_ENST00000414533.1_Missense_Mutation_p.Q594E			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	605					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AAGGGAACCTGATGGAAGCCT	0.517000													12	50					0	0	0.013537	0	0
SLC7A2	6542	broad.mit.edu	37	8	17419529	17419529	+	Silent	SNP	C	C	T	rs139462829		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:17419529C>T	ENST00000470360.1	+	12	1815	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	SLC7A2_ENST00000494857.1_Silent_p.L527L|SLC7A2_ENST00000398090.3_Silent_p.L566L|SLC7A2_ENST00000522656.1_Silent_p.L527L|SLC7A2_ENST00000004531.10_Silent_p.L567L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	527				A -> T (in Ref. 1; BAA06271).	cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTGGAGCCTCGCTCTCCTCG	0.532000													21	70					0	0	0.049695	0	0
PCBP4	57060	broad.mit.edu	37	3	51992917	51992917	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:51992917G>A	ENST00000461554.1	-	13	1143	c.812C>T	c.(811-813)tCa>tTa	p.S271L	PCBP4_ENST00000395013.3_Missense_Mutation_p.S111L|PCBP4_ENST00000471622.1_Missense_Mutation_p.S271L|PCBP4_ENST00000395014.2_Missense_Mutation_p.S292L|PCBP4_ENST00000355852.2_Missense_Mutation_p.S271L|PCBP4_ENST00000484633.1_Missense_Mutation_p.S228L|PCBP4_ENST00000322099.7_Missense_Mutation_p.S271L|PCBP4_ENST00000428823.2_Missense_Mutation_p.S228L	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	271	KH 3.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGTGCCCCTGACATCTGCCG	0.612000													21	95					0	0	0.018920	0	0
ITPR3	3710	broad.mit.edu	37	6	33660549	33660549	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:33660549C>T	ENST00000374316.5	+	56	8563	c.7503C>T	c.(7501-7503)ttC>ttT	p.F2501F	ITPR3_ENST00000605930.1_Silent_p.F2501F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2501					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCCTGTTCTTCTTCATCGTCA	0.547000													17	87					0	0	0.049695	0	0
GADL1	339896	broad.mit.edu	37	3	30885930	30885930	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:30885930G>C	ENST00000454381.3	-	7	726	c.680C>G	c.(679-681)tCt>tGt	p.S227C	GADL1_ENST00000282538.5_Missense_Mutation_p.S227C			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	227					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	CCCAAGAAAAGAGGCTGCCTT	0.433000													35	150					0	0	0.015359	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167978	140167978	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:140167978C>T	ENST00000504120.2	+	1	2103	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	PCDHA1_ENST00000378133.3_Silent_p.I701I|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACCTGATCATCGCCATCT	0.682000													19	78					0	0	0.055883	0	0
NEK9	91754	broad.mit.edu	37	14	75568401	75568401	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:75568401C>T	ENST00000238616.5	-	15	1957	c.1799G>A	c.(1798-1800)cGt>cAt	p.R600H		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	600					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GGCAATGGTACGGATCTTATA	0.413000													17	146					0	0	0.033300	0	0
EYS	346007	broad.mit.edu	37	6	66204659	66204659	+	Silent	SNP	A	A	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:66204659A>G	ENST00000503581.1	-	4	1182	c.645T>C	c.(643-645)gaT>gaC	p.D215D	EYS_ENST00000370616.2_Silent_p.D215D|EYS_ENST00000370621.3_Silent_p.D215D|EYS_ENST00000342421.5_Silent_p.D215D|EYS_ENST00000393380.2_Silent_p.D215D|EYS_ENST00000370618.3_Silent_p.D215D	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	215	EGF-like 2.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGAACATGCATCAAGTTCCT	0.388000													3	21					0	0	0.009096	0	0
CWH43	80157	broad.mit.edu	37	4	49034613	49034613	+	Silent	SNP	G	G	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr4:49034613G>T	ENST00000226432.4	+	12	1722	c.1539G>T	c.(1537-1539)gtG>gtT	p.V513V	CWH43_ENST00000513409.1_Silent_p.V486V	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	513					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACCCAATTGTGAAATCTGAGC	0.468000													38	205					2.40579e-17	2.58069e-17	0.025465	1	0
AIM1	202	broad.mit.edu	37	6	106999740	106999740	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:106999740G>A	ENST00000369066.3	+	12	4589	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K	AIM1_ENST00000535438.1_Missense_Mutation_p.E187K|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1368	Beta/gamma crystallin 'Greek key' 8.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGTAGCCTATGAAAATCCTGA	0.338000													25	159					0	0	0.021523	0	0
GBP1P1	400759	broad.mit.edu	37	1	89885758	89885758	+	RNA	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:89885758C>A	ENST00000513638.1	+	0	298					NR_003133.2																						AGGCTTCTCTCTGGGCTCCAC	0.507000													8	76					0.000157383	0.000162776	0.038147	1	0
TMCC1	23023	broad.mit.edu	37	3	129389903	129389903	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:129389903C>T	ENST00000393238.3	-	4	1121	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	TMCC1_ENST00000426664.2_Missense_Mutation_p.E147K|TMCC1_ENST00000329333.5_Missense_Mutation_p.E82K|TMCC1_ENST00000432054.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	261						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TTCAAGTATTCAGCAACGTTG	0.498000													45	214					0	0	0.048971	0	0
TPH2	121278	broad.mit.edu	37	12	72335507	72335507	+	Silent	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:72335507C>G	ENST00000333850.3	+	2	390	c.249C>G	c.(247-249)ctC>ctG	p.L83L	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	83	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CACTGAGGCTCTTTCAGGTGA	0.403000													9	94					0	0	0.013537	0	0
FANCM	57697	broad.mit.edu	37	14	45606317	45606317	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:45606317G>C	ENST00000267430.5	+	2	639	c.554G>C	c.(553-555)aGa>aCa	p.R185T	FANCM_ENST00000556036.1_Missense_Mutation_p.R185T|FANCM_ENST00000542564.2_Missense_Mutation_p.R185T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	185	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGCAGTAAGAGAGTGCTTTTT	0.373000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	63					0	0	0.038147	0	0
EPDR1	54749	broad.mit.edu	37	7	37989863	37989863	+	Silent	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:37989863C>A	ENST00000199448.4	+	3	919	c.540C>A	c.(538-540)acC>acA	p.T180T	EPDR1_ENST00000425345.1_Silent_p.T119T|EPDR1_ENST00000423717.1_3'UTR|EPDR1_ENST00000476620.1_Silent_p.T78T|EPDR1_ENST00000559325.1_Silent_p.T300T	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	180					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AAACCTTTACCATAAACTACA	0.428000													4	41					0.00116845	0.00119178	0.021553	1	0
ABCC9	10060	broad.mit.edu	37	12	22069956	22069956	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:22069956G>C	ENST00000261200.4	-	4	487	c.488C>G	c.(487-489)tCa>tGa	p.S163*	ABCC9_ENST00000261201.4_Nonsense_Mutation_p.S163*|ABCC9_ENST00000345162.2_Nonsense_Mutation_p.S163*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	163					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			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)	ACGCAGGTTTGATATGTCCAA	0.418000													33	187					0	0	0.045705	0	0
PRKCA	5578	broad.mit.edu	37	17	64683318	64683318	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:64683318G>A	ENST00000413366.3	+	6	645	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	207	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TCCCAAGAATGAAAGCAAGCA	0.408000													27	127					0	0	0.030593	0	0
KPNA2	3838	broad.mit.edu	37	17	66039309	66039309	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:66039309C>T	ENST00000537025.2	+	7	1380	c.760C>T	c.(760-762)Cct>Tct	p.P254S	KPNA2_ENST00000330459.3_Missense_Mutation_p.P254S			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	254					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCAGATTCTTCCTACCTTAGT	0.468000													50	290					0	0	0.048971	0	0
OR2M4	26245	broad.mit.edu	37	1	248402793	248402793	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:248402793C>G	ENST00000306687.1	+	1	563	c.563C>G	c.(562-564)tCc>tGc	p.S188C		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			TTACCTCTATCCTGCACAGAA	0.403000													6	141					0	0	0.047766	0	0
PRB3	5544	broad.mit.edu	37	12	11420963	11420963	+	RNA	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:11420963G>A	ENST00000381842.3	-	0	257				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCTGGACGAGGTGGGGGA	0.627000													49	385					0	0	0.048971	0	0
FAM159A	348378	broad.mit.edu	37	1	53108622	53108622	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:53108622C>T	ENST00000517870.1	+	2	420	c.270C>T	c.(268-270)atC>atT	p.I90I	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	90						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						ACCTGTTCATCAGCTCTAAGC	0.527000													20	125					0	0	0.049695	0	0
FBN2	2201	broad.mit.edu	37	5	127653955	127653955	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:127653955C>G	ENST00000508053.1	-	42	5577	c.4603G>C	c.(4603-4605)Gag>Cag	p.E1535Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E1535Q			P35556	FBN2_HUMAN	fibrillin 2	1535	EGF-like 26; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCTGCACACTCATCAATATCT	0.423000													23	131					0	0	0.030593	0	0
EIF4G1	1981	broad.mit.edu	37	3	184046444	184046444	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:184046444G>A	ENST00000342981.4	+	26	4396	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	EIF4G1_ENST00000435046.2_Missense_Mutation_p.E1131K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E1164K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E1132K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E1288K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1327K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E1163K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E1240K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1334K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1334K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1334K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E1287K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E1241K|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E1327K|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1327	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAATTGGCTGAGGACATGGA	0.537000													30	188					0	0	0.041601	0	0
HEATR4	399671	broad.mit.edu	37	14	73989358	73989358	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:73989358G>A	ENST00000553558.1	-	3	820	c.499C>T	c.(499-501)Cat>Tat	p.H167Y	HEATR4_ENST00000560393.1_Missense_Mutation_p.H120Y|HEATR4_ENST00000334988.2_Missense_Mutation_p.H167Y	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		ATGCAGGGATGATGGATGAGA	0.562000													9	46					0	0	0.047766	0	0
ANKRD26	22852	broad.mit.edu	37	10	27306526	27306526	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:27306526C>G	ENST00000376087.4	-	30	4576	c.4411G>C	c.(4411-4413)Gaa>Caa	p.E1471Q	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E1028Q|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1487Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1470						centrosome		p.E1471K(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGACCAAGTTCTACCATATTC	0.318000													19	85					0	0	0.043863	0	0
DARS	1615	broad.mit.edu	37	2	136740989	136740989	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:136740989C>G	ENST00000264161.4	-	2	317	c.102G>C	c.(100-102)atG>atC	p.M34I	DARS_ENST00000537273.1_Intron	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	34					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GTGATTGTATCATTGAAGATA	0.299000													2	8					0	0	0.004672	0	0
FAM118A	55007	broad.mit.edu	37	22	45728405	45728405	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr22:45728405G>A	ENST00000216214.3	+	7	1585	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	FAM118A_ENST00000441876.2_Missense_Mutation_p.V251M|FAM118A_ENST00000405548.3_Missense_Mutation_p.V69M	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	251						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCTTTACTCCGTGCCGAATAA	0.478000													22	138					0	0	0.016522	0	0
MPP4	58538	broad.mit.edu	37	2	202550741	202550741	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:202550741C>T	ENST00000409474.3	-	6	600	c.393G>A	c.(391-393)caG>caA	p.Q131Q	MPP4_ENST00000447335.2_Silent_p.Q131Q|MPP4_ENST00000428900.2_Silent_p.Q131Q|MPP4_ENST00000409143.1_Silent_p.Q104Q|MPP4_ENST00000396886.3_Intron|MPP4_ENST00000359962.5_Silent_p.Q131Q|MPP4_ENST00000315506.7_Silent_p.Q131Q	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	131	L27 2.					cytoplasm	protein binding			kidney(1)|lung(11)	12						CAAAATCTTTCTGAGCTATCG	0.493000													29	137					0	0	0.045705	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564092	46564092	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:46564092G>C	ENST00000458649.2	-	7	1893	c.1475C>G	c.(1474-1476)tCg>tGg	p.S492W	AMBRA1_ENST00000534300.1_Missense_Mutation_p.S492W|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S492W|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S492W|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S402W|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S402W|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S492W			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	492					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AATGCTGCCCGAGTTGTTTTG	0.562000													15	72					0	0	0.033300	0	0
LMTK3	114783	broad.mit.edu	37	19	49004553	49004553	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:49004553C>T	ENST00000600059.1	-	9	1215	c.988G>A	c.(988-990)Gag>Aag	p.E330K	LMTK3_ENST00000270238.3_Missense_Mutation_p.E359K					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		ATGTTGCTCTCGCGGCTCTGG	0.662000													13	66					0	0	0.020292	0	0
DMXL2	23312	broad.mit.edu	37	15	51790872	51790872	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr15:51790872G>A	ENST00000251076.5	-	18	4836	c.4549C>T	c.(4549-4551)Cat>Tat	p.H1517Y	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.H1517Y|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1517						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGCATAAGATGACTTGAAAGT	0.408000													19	46					0	0	0.043863	0	0
PREX2	80243	broad.mit.edu	37	8	69058533	69058533	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:69058533C>G	ENST00000288368.4	+	34	4454	c.4177C>G	c.(4177-4179)Caa>Gaa	p.Q1393E		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1393					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACAACTTCCTCAACGGCTGAA	0.338000													8	46					0	0	0.038147	0	0
CTSW	1521	broad.mit.edu	37	11	65649791	65649791	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:65649791C>T	ENST00000528419.1	+	4	436	c.432C>T	c.(430-432)atC>atT	p.I144I	CTSW_ENST00000307886.3_Silent_p.I144I			P56202	CATW_HUMAN	cathepsin W	144					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		TCTCACCCATCAAGGACCAGG	0.612000													10	45					0	0	0.008291	0	0
SLC38A7	55238	broad.mit.edu	37	16	58704061	58704061	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:58704061G>A	ENST00000570101.1	-	10	2125	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.L414L|SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000564010.1_Silent_p.L325L			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	414					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCTTGAATGAGGCACAGCC	0.557000													14	42					0	0	0.016723	0	0
ATAD5	79915	broad.mit.edu	37	17	29161793	29161793	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29161793G>C	ENST00000321990.4	+	2	1072	c.694G>C	c.(694-696)Gat>Cat	p.D232H	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	232					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GCTTAAAAAAGATGGTAAAGA	0.338000													16	126					0	0	0.038395	0	0
RNF113A	7737	broad.mit.edu	37	X	119005250	119005250	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:119005250C>T	ENST00000371442.2	-	1	541	c.327G>A	c.(325-327)gtG>gtA	p.V109V		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	109							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CCTCTGGTCCCACGGGTTTCG	0.562000													14	181					0	0	0.016723	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816351	1816351	+	Silent	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:1816351C>A	ENST00000250894.4	+	22	2914	c.2757C>A	c.(2755-2757)ctC>ctA	p.L919L	MAPK8IP3_ENST00000356010.5_Silent_p.L913L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	919					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCGGGCCTCTCACAGAGCACG	0.687000													6	38					3.59834e-05	3.72745e-05	0.021553	1	0
CACNA1D	776	broad.mit.edu	37	3	53531326	53531326	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:53531326C>G	ENST00000288139.3	+	2	333	c.215C>G	c.(214-216)tCt>tGt	p.S72C	CACNA1D_ENST00000422281.2_Missense_Mutation_p.S72C|CACNA1D_ENST00000350061.5_Missense_Mutation_p.S72C	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	72					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATGAGCACCTCTGCACCCCCA	0.547000													4	74					0	0	0.009096	0	0
ATAD5	79915	broad.mit.edu	37	17	29161714	29161714	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29161714G>C	ENST00000321990.4	+	2	993	c.615G>C	c.(613-615)ttG>ttC	p.L205F	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	205					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCAAAAAGTTGAGAAAAAGGA	0.328000													23	141					0	0	0.021523	0	0
SENP5	205564	broad.mit.edu	37	3	196626904	196626904	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:196626904C>G	ENST00000323460.5	+	4	1978	c.1729C>G	c.(1729-1731)Ctg>Gtg	p.L577V	SENP5_ENST00000445299.2_Missense_Mutation_p.L577V|SENP5_ENST00000419026.1_Missense_Mutation_p.L67V	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	577	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CCTGGCGACTCTGGATGGTCA	0.383000													13	70					0	0	0.028581	0	0
SLC4A9	83697	broad.mit.edu	37	5	139745140	139745140	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:139745140G>C	ENST00000230993.6	+	12	1794	c.1759G>C	c.(1759-1761)Gac>Cac	p.D587H	SLC4A9_ENST00000507527.1_Missense_Mutation_p.D587H|SLC4A9_ENST00000506757.2_Missense_Mutation_p.D563H|SLC4A9_ENST00000506545.1_Missense_Mutation_p.D563H|SLC4A9_ENST00000432095.2_Missense_Mutation_p.D552H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	587	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCCAAAAGACAGAGACGA	0.507000													7	20					0	0	0.029380	0	0
MTUS1	57509	broad.mit.edu	37	8	17613142	17613142	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:17613142C>G	ENST00000381869.3	-	2	648	c.175G>C	c.(175-177)Gaa>Caa	p.E59Q	MTUS1_ENST00000519263.1_Missense_Mutation_p.E59Q|MTUS1_ENST00000381862.3_Missense_Mutation_p.E59Q|MTUS1_ENST00000262102.6_Missense_Mutation_p.E59Q	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	59						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGGTCAGTTTCATAATCAACC	0.403000													28	168					0	0	0.041601	0	0
TBX10	347853	broad.mit.edu	37	11	67399081	67399081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:67399081G>A	ENST00000335385.3	-	8	1240	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	385					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TGGCATCACTGGGAGTCCTGG	0.672000													4	9					0	0	0.009096	0	0
KIAA0586	9786	broad.mit.edu	37	14	58932685	58932685	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:58932685G>A	ENST00000423743.3	+	16	2318	c.2060G>A	c.(2059-2061)aGa>aAa	p.R687K	KIAA0586_ENST00000354386.6_Missense_Mutation_p.R784K|KIAA0586_ENST00000261244.5_Missense_Mutation_p.R655K|KIAA0586_ENST00000556134.1_Missense_Mutation_p.R716K|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	655										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCCAAGTAGAGAAATGCCT	0.358000													6	166					0	0	0.021553	0	0
ZNF124	7678	broad.mit.edu	37	1	247322349	247322349	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:247322349C>G	ENST00000472531.1	-	3	304	c.177G>C	c.(175-177)caG>caC	p.Q59H	ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000543802.2_Missense_Mutation_p.Q59H|ZNF124_ENST00000491356.1_Missense_Mutation_p.Q59H|ZNF124_ENST00000340684.6_Missense_Mutation_p.Q59H	NM_001243740.1	NP_001230669.1	Q15973	ZN124_HUMAN	zinc finger protein 124	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CTTCAATGCTCTGGTCTTCCC	0.353000													7	28					0	0	0.047766	0	0
OSMR	9180	broad.mit.edu	37	5	38883988	38883988	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:38883988G>A	ENST00000274276.3	+	5	880	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	OSMR_ENST00000502536.1_Missense_Mutation_p.E160K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	160					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCTGGTGGAAGAAGGCACCAA	0.363000													8	90					0	0	0.047766	0	0
RGS4	5999	broad.mit.edu	37	1	163039306	163039306	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:163039306C>G	ENST00000421743.2	+	2	483	c.323C>G	c.(322-324)tCt>tGt	p.S108C	RGS4_ENST00000531057.1_Missense_Mutation_p.S11C|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000527809.1_Intron|RGS4_ENST00000367909.6_Missense_Mutation_p.S11C|RGS4_ENST00000367908.4_Missense_Mutation_p.S11C	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	11	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CTGCCGGCTTCTTGCTTGAGG	0.438000											OREG0013952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	42					0	0	0.020292	0	0
COL4A4	1286	broad.mit.edu	37	2	227958967	227958967	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:227958967G>C	ENST00000396625.3	-	20	1450	c.1243C>G	c.(1243-1245)Ctt>Gtt	p.L415V	COL4A4_ENST00000329662.7_Missense_Mutation_p.L415V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	415	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGCCCAGGAAGACCAGGAAAT	0.502000													5	33					0	0	0.021553	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130857157	130857157	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr5:130857157G>A	ENST00000509018.1	-	7	758	c.553C>T	c.(553-555)Cat>Tat	p.H185Y	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.H185Y|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.H185Y|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.H185Y|FNIP1_ENST00000514667.1_Missense_Mutation_p.H235Y|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.H185Y|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H185Y	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	185					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GAAGACACATGAGTCACCTGT	0.383000													8	59					0	0	0.047766	0	0
KAZN	23254	broad.mit.edu	37	1	15392164	15392164	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:15392164G>A	ENST00000376030.2	+	8	1431	c.1137G>A	c.(1135-1137)aaG>aaA	p.K379K	KAZN_ENST00000422387.2_Silent_p.K379K|KAZN_ENST00000400798.2_Silent_p.K285K|KAZN_ENST00000361144.5_Silent_p.K373K|KAZN_ENST00000400797.3_Silent_p.K285K|KAZN_ENST00000503743.1_Silent_p.K379K	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	379	Poly-Lys.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GGAAAAAGAAGAAAGAGAAGA	0.552000													7	76					0	0	0.038147	0	0
SDHC	6391	broad.mit.edu	37	1	161326611	161326611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:161326611G>A	ENST00000367975.2	+	5	535	c.386G>A	c.(385-387)tGg>tAg	p.W129*	SDHC_ENST00000470743.2_3'UTR|SDHC_ENST00000432287.2_Nonsense_Mutation_p.W95*|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000392169.2_Nonsense_Mutation_p.W76*|SDHC_ENST00000513009.1_Intron	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	129					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TATCATACCTGGAATGGGATC	0.463000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				24	143					0	0	0.018920	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24950751	24950751	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:24950751G>A	ENST00000289968.6	-	17	1727	c.1658C>T	c.(1657-1659)tCt>tTt	p.S553F	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Intron	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	553	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCCACCCCCAGAGCTGCTTTC	0.687000													5	25					0	0	0.021553	0	0
CARD14	79092	broad.mit.edu	37	17	78156549	78156549	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:78156549C>T	ENST00000573882.1	+	5	845	c.309C>T	c.(307-309)gtC>gtT	p.V103V	CARD14_ENST00000570421.1_Silent_p.V103V|CARD14_ENST00000344227.2_Silent_p.V103V			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	103	CARD.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACACCCTGGTCACCGGGCTGC	0.557000													8	35					0	0	0.006214	0	0
PLCH1	23007	broad.mit.edu	37	3	155199669	155199669	+	Silent	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:155199669G>C	ENST00000460012.1	-	23	4413	c.4056C>G	c.(4054-4056)ctC>ctG	p.L1352L	PLCH1_ENST00000340059.7_Silent_p.L1390L|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.L1352L|PLCH1_ENST00000334686.6_Silent_p.L1352L|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1390					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GATTGTACTTGAGTTTTAAAG	0.418000													6	75					0	0	0.029380	0	0
MAP10	54627	broad.mit.edu	37	1	232942141	232942141	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:232942141C>T	ENST00000418460.1	+	1	1499	c.1372C>T	c.(1372-1374)Cct>Tct	p.P458S		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AAAACCGCCCCCTGCACAGGC	0.448000													27	167					0	0	0.030593	0	0
MTA1	9112	broad.mit.edu	37	14	105936499	105936499	+	Missense_Mutation	SNP	C	C	T	rs146041220	byFrequency	TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr14:105936499C>T	ENST00000331320.7	+	21	2309	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	MTA1_ENST00000435036.2_Missense_Mutation_p.R239W|MTA1_ENST00000405646.1_Missense_Mutation_p.R682W|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000406191.1_Missense_Mutation_p.R687W	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	699	Poly-Pro.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCTGCCGCCGCGGCCACCGCC	0.736000													5	17					0	0	0.014758	0	0
THAP2	83591	broad.mit.edu	37	12	72068122	72068122	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:72068122C>A	ENST00000308086.2	+	2	1712	c.211C>A	c.(211-213)Ctt>Att	p.L71I	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.L47I	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	71						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						AACTCGACGACTTAAAATGGA	0.368000													15	69					2.31682e-05	2.4037e-05	0.024245	1	0
TLX1	3195	broad.mit.edu	37	10	102891411	102891411	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr10:102891411C>T	ENST00000370196.6	+	1	2155	c.113C>T	c.(112-114)tCg>tTg	p.S38L	TLX1_ENST00000467928.2_Missense_Mutation_p.S38L			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	38						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGACCCGCCTCGCGCCTCCAG	0.706000			T	"""TRB@, TRD@"""	T-ALL								4	16					0	0	0.009096	0	0
LYST	1130	broad.mit.edu	37	1	235922480	235922480	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:235922480G>A	ENST00000389794.3	-	23	6847	c.6673C>T	c.(6673-6675)Cgc>Tgc	p.R2225C	LYST_ENST00000389793.2_Missense_Mutation_p.R2225C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2225					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCAGGTCGGCGTGGGCAGGAC	0.532000													12	55					0	0	0.013537	0	0
RPS13	6207	broad.mit.edu	37	11	17098993	17098993	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:17098993G>C	ENST00000525634.1	-	2	200	c.55C>G	c.(55-57)Cga>Gga	p.R19G	RPS13_ENST00000526895.1_5'UTR|RPS13_ENST00000228140.2_Missense_Mutation_p.R19G			P62277	RS13_HUMAN	ribosomal protein S13	19					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						ACGCTGCGTCGATAGGGTAAA	0.632000													6	22					0	0	0.047766	0	0
ERP27	121506	broad.mit.edu	37	12	15090892	15090892	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:15090892G>C	ENST00000266397.2	-	2	762	c.189C>G	c.(187-189)ttC>ttG	p.F63L		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	63	Thioredoxin.					endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TAACCTGGAAGAAGCCTATGA	0.547000													15	118					0	0	0.033300	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111636039	111636039	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:111636039C>T	ENST00000527614.1	-	2	249	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E62K|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E62K|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E62K	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	62							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GGCAACAATTCACTTCGGGTC	0.363000													11	82					0	0	0.010729	0	0
ERP44	23071	broad.mit.edu	37	9	102784444	102784444	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:102784444C>T	ENST00000262455.6	-	5	550	c.351G>A	c.(349-351)atG>atA	p.M117I		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	117	Thioredoxin.				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TCTTCATCATCATCCCATTAC	0.393000													12	115					0	0	0.010729	0	0
RNF113A	7737	broad.mit.edu	37	X	119005174	119005174	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chrX:119005174C>T	ENST00000371442.2	-	1	617	c.403G>A	c.(403-405)Gag>Aag	p.E135K		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	135							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TGGCTGCGCTCAAAGATGGCT	0.527000													18	253					0	0	0.049695	0	0
ZNF682	91120	broad.mit.edu	37	19	20117110	20117110	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:20117110C>T	ENST00000397165.2	-	4	1361	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	ZNF682_ENST00000597972.1_Missense_Mutation_p.E407K|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.E369K|ZNF682_ENST00000595736.1_Missense_Mutation_p.E325K|ZNF682_ENST00000397162.1_Missense_Mutation_p.E369K	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTGCCACATTCTTCACATTTG	0.378000													16	77					0	0	0.038395	0	0
HSPA5	3309	broad.mit.edu	37	9	128001040	128001040	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:128001040C>T	ENST00000324460.6	-	6	1266	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	355					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TCATCAATATCAGACTTCTTC	0.418000										Prostate(1;0.17)			15	57					0	0	0.024245	0	0
GGA3	23163	broad.mit.edu	37	17	73237033	73237033	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:73237033G>A	ENST00000245541.6	-	11	1268	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	GGA3_ENST00000578348.1_Missense_Mutation_p.S229L|GGA3_ENST00000582717.1_Missense_Mutation_p.S279L|GGA3_ENST00000582486.1_Missense_Mutation_p.S279L|GGA3_ENST00000538886.1_Missense_Mutation_p.S229L|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000351904.7_Missense_Mutation_p.S318L	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	351	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TGGGATGCCTGAGGAGGGTGG	0.647000											OREG0024730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	56					0	0	0.038147	0	0
DUSP7	1849	broad.mit.edu	37	3	52087966	52087966	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:52087966G>C	ENST00000495880.1	-	2	1125	c.942C>G	c.(940-942)atC>atG	p.I314M	DUSP7_ENST00000296483.6_Missense_Mutation_p.I263M			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	314	Tyrosine-protein phosphatase.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAATGAAGCTGATGGCCTCAG	0.612000													11	62					0	0	0.013537	0	0
CAPN9	10753	broad.mit.edu	37	1	230907820	230907820	+	Missense_Mutation	SNP	G	G	C	rs145028426		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:230907820G>C	ENST00000354537.1	+	7	932	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	CAPN9_ENST00000366666.2_Missense_Mutation_p.E221Q|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.E284Q	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	284	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGGCCAGGTTGAGTGGAACGG	0.572000													9	58					0	0	0.006214	0	0
RGL1	23179	broad.mit.edu	37	1	183775568	183775568	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:183775568C>T	ENST00000304685.3	+	3	653	c.192C>T	c.(190-192)ctC>ctT	p.L64L	RGL1_ENST00000360851.3_Silent_p.L29L|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000539189.1_Silent_p.L29L|RGL1_ENST00000367531.1_Silent_p.L64L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	29					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ATGTCACCCTCAAAAGAGTCC	0.473000													19	80					0	0	0.055883	0	0
HSPA5	3309	broad.mit.edu	37	9	128001050	128001050	+	Silent	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:128001050C>T	ENST00000324460.6	-	6	1256	c.1053G>A	c.(1051-1053)ttG>ttA	p.L351L		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	351					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CAGACTTCTTCAAATCAGAAT	0.393000										Prostate(1;0.17)			16	51					0	0	0.028581	0	0
MYLK	4638	broad.mit.edu	37	3	123419491	123419491	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:123419491C>T	ENST00000360772.3	-	19	3202	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	MYLK_ENST00000475616.1_Missense_Mutation_p.E942K|MYLK_ENST00000360304.3_Missense_Mutation_p.E942K|MYLK_ENST00000359169.1_Missense_Mutation_p.E942K|MYLK_ENST00000346322.5_Missense_Mutation_p.E873K			Q15746	MYLK_HUMAN	myosin light chain kinase	942	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACCTTCCTCTCTTCCTCAGAC	0.587000													11	70					0	0	0.008291	0	0
POLR3GL	84265	broad.mit.edu	37	1	145459695	145459695	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr1:145459695C>T	ENST00000369314.1	-	3	319	c.213G>A	c.(211-213)atG>atA	p.M71I	POLR3GL_ENST00000369313.3_Missense_Mutation_p.M71I	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	71										endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCTGCCTCATGGCTCCTC	0.577000													8	43					0	0	0.008291	0	0
DDR1	780	broad.mit.edu	37	6	30856694	30856694	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:30856694G>A	ENST00000324771.8	+	5	643	c.95G>A	c.(94-96)cGc>cAc	p.R32H	DDR1_ENST00000454612.2_Missense_Mutation_p.R32H|DDR1_ENST00000376567.2_Missense_Mutation_p.R32H|DDR1_ENST00000418800.2_Missense_Mutation_p.R32H|DDR1_ENST00000376570.4_Missense_Mutation_p.R32H|DDR1_ENST00000513240.1_Missense_Mutation_p.R32H|DDR1_ENST00000376575.3_Missense_Mutation_p.R32H|DDR1_ENST00000376569.3_Missense_Mutation_p.R32H|DDR1_ENST00000508312.1_Missense_Mutation_p.R50H|DDR1_ENST00000376568.3_Missense_Mutation_p.R32H|DDR1_ENST00000452441.1_Missense_Mutation_p.R32H|DDR1_ENST00000446312.1_Missense_Mutation_p.R32H			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	32	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GCCAAGTGCCGCTATGCCCTG	0.592000													3	31					0	0	0.004672	0	0
CSMD1	64478	broad.mit.edu	37	8	2836257	2836257	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr8:2836257C>T	ENST00000520002.1	-	56	9001	c.8446G>A	c.(8446-8448)Gag>Aag	p.E2816K	CSMD1_ENST00000602557.1_Missense_Mutation_p.E2816K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E2758K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2757K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2815K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E2758K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2816	Sushi 20.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCAAAACTCTCAGGGAAGTTC	0.423000													3	16					0	0	0.004672	0	0
IFT172	26160	broad.mit.edu	37	2	27685974	27685974	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:27685974G>T	ENST00000260570.3	-	19	2115	c.2012C>A	c.(2011-2013)tCc>tAc	p.S671Y		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	671					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ATATTCCCGGGATACTTGATC	0.438000													8	58					5.4927e-09	5.80757e-09	0.047766	1	0
AMBRA1	55626	broad.mit.edu	37	11	46564069	46564069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr11:46564069G>A	ENST00000458649.2	-	7	1916	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q500*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q500*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q500*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q410*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q410*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q500*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	500					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGGTCACACTGAAGCTCATGG	0.567000													15	67					0	0	0.024245	0	0
FCHO1	23149	broad.mit.edu	37	19	17875220	17875220	+	Silent	SNP	G	G	A	rs148025294		TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:17875220G>A	ENST00000594202.1	+	6	435	c.156G>A	c.(154-156)gcG>gcA	p.A52A	FCHO1_ENST00000389133.4_Silent_p.A52A|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000600676.1_Silent_p.A52A|FCHO1_ENST00000596951.1_Silent_p.A52A|FCHO1_ENST00000597512.1_Silent_p.A59A|FCHO1_ENST00000596536.1_Silent_p.A52A|FCHO1_ENST00000539407.1_Silent_p.A52A|FCHO1_ENST00000595033.1_Silent_p.A2A|FCHO1_ENST00000252771.7_Silent_p.A52A	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	52	FCH.									NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						AGGCGATGGCGAAACTCTCCA	0.602000													9	38					0	0	0.047766	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839889	27839889	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:27839889G>A	ENST00000328488.2	-	1	210	c.205C>T	c.(205-207)Cag>Tag	p.Q69*		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	69					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCAAGCGCTGAAAAGGTAGC	0.637000													32	92					0	0	0.045705	0	0
ATAD5	79915	broad.mit.edu	37	17	29162199	29162199	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr17:29162199G>C	ENST00000321990.4	+	2	1478	c.1100G>C	c.(1099-1101)aGa>aCa	p.R367T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	367					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GTTCAGAAAAGAAAATCTAAT	0.343000													11	50					0	0	0.008291	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950502	235950502	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:235950502G>A	ENST00000409212.1	+	4	1596	c.1089G>A	c.(1087-1089)ccG>ccA	p.P363P	SH3BP4_ENST00000344528.4_Silent_p.P363P|SH3BP4_ENST00000392011.2_Silent_p.P363P			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	363					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			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)		TGGACCCCCCGCTGGAGCTCA	0.597000													6	45					0	0	0.021553	0	0
HK2	3099	broad.mit.edu	37	2	75061710	75061710	+	Translation_Start_Site	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:75061710G>A	ENST00000290573.2	+	1	603	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	1	Hydrophobic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GCGGCAGGATGATTGCCTCGC	0.677000													6	42					0	0	0.029380	0	0
MTCH1	23787	broad.mit.edu	37	6	36938202	36938202	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr6:36938202G>A	ENST00000373627.5	-	10	1126	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	MTCH1_ENST00000471737.1_5'UTR|MTCH1_ENST00000538808.1_Silent_p.L161L|MTCH1_ENST00000373616.5_Silent_p.L317L	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	334					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TCACAGCCATGAGGTCGCCAA	0.622000													10	52					0	0	0.010729	0	0
DUSP16	80824	broad.mit.edu	37	12	12629840	12629840	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:12629840G>A	ENST00000228862.2	-	7	2556	c.1925C>T	c.(1924-1926)tCa>tTa	p.S642L	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	642					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTCTTCCCGTGACCTGTTCTC	0.498000													36	205					0	0	0.025465	0	0
MON1A	84315	broad.mit.edu	37	3	49947847	49947847	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr3:49947847C>T	ENST00000417270.1	-	5	1801	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.E459K|MON1A_ENST00000455683.2_Missense_Mutation_p.E297K			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	362							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTCCAGGCCTCGCCCTCGCGA	0.597000													6	44					0	0	0.029380	0	0
RABGAP1	23637	broad.mit.edu	37	9	125865491	125865491	+	Silent	SNP	G	G	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr9:125865491G>A	ENST00000373647.4	+	26	3343	c.3209G>A	c.(3208-3210)tGa>tAa	p.*1070*	RABGAP1_ENST00000373643.5_Silent_p.*409*	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	0					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GAGACTTGCTGAGAGCAGCTG	0.522000											OREG0019466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	73					0	0	0.020292	0	0
HSP90B1	7184	broad.mit.edu	37	12	104336982	104336982	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:104336982C>G	ENST00000299767.5	+	13	1957	c.1775C>G	c.(1774-1776)gCc>gGc	p.A592G		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	592					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CAGAATGTTGCCAAGGAAGGA	0.418000													11	68					0	0	0.008291	0	0
MED15P9	285103	broad.mit.edu	37	2	130893080	130893081	+	RNA	INS	-	-	A			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr2:130893080_130893081insA	ENST00000427638.1	+	0	541_542					NR_033903.1																						gactccatctcaaaaaaaaaaa	0.564													7	2	---	---	---	---					
MGAM	8972	broad.mit.edu	37	7	141793258	141793259	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr7:141793258_141793259insGA	ENST00000475668.2	+	60	7134_7135	c.7080_7081insGA	c.(7078-7083)atagagfs	p.IE2360fs	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1464					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)	CCCTGTGCATGGAGAGTCAGCA	0.574													2	4	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711546	6711546	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr12:6711546delT	ENST00000309577.6	-	3	381	c.218delA	c.(217-219)agfs	p.K73fs	CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	73					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACTCACCTCCTTTTTTTGGCG	0.468													7	393	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2808519	2808519	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr16:2808519delG	ENST00000301740.8	+	5	1113	c.564delG	c.(562-564)aafs	p.K194fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	194	Lys-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAaagcagaagaagaagaaaa	0.453													25	207	---	---	---	---					
PSG3	5671	broad.mit.edu	37	19	43243011	43243011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-6481-01A-11D-1870-08	TCGA-CR-6481-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e7d2531-81c1-48bb-9c0a-1867d1f83f92	a09784cf-42b3-40c9-b7d0-d54a56563b7b	g.chr19:43243011delC	ENST00000327495.5	-	2	479	c.295delG	c.(295-297)aafs	p.E99fs	PSG3_ENST00000595140.1_Frame_Shift_Del_p.E99fs|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	99	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TATACTGTTTCTCGTCCACTG	0.453													69	541	---	---	---	---