Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
COL18A1	80781	broad.mit.edu	37	21	46925852	46925852	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr21:46925852G>A	uc002zhi.3	+	35	3749	c.3728G>A	c.(3727-3729)cGc>cAc	p.R1243H	COL18A1_uc002zhg.3_Missense_Mutation_p.R1063H|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_Missense_Mutation_p.R41H|COL18A1_uc002zhk.3_5'Flank	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1478	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCTACGTCCGCGTGCAGAAC	0.667000														91			41		0	0	0.111260	0	0
ZNF12	7559	broad.mit.edu	37	7	6737039	6737039	+	Missense_Mutation	SNP	T	A	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr7:6737039T>A	uc003sqt.1	-	3	723	c.169A>T	c.(169-171)Atc>Ttc	p.I57F	ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Missense_Mutation_p.I57F	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	57	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AACTTGCTGATAACATCCGGT	0.463000														14			10		0	0	0.105934	0	0
GABRG3	2567	broad.mit.edu	37	15	27574011	27574011	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr15:27574011T>C	uc001zbg.2	+	4	804	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P	GABRG3_uc001zbf.3_Missense_Mutation_p.S184P	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	184					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GGACGAACACTCCTGCCCGCT	0.557000														31			14		0	0	0.020292	0	0
MUC4	4585	broad.mit.edu	37	3	195505814	195505814	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:195505814C>T	uc021xjp.1	-	1	12793	c.12637G>A	c.(12637-12639)Gac>Aac	p.D4213N	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	970					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.D4213N(1)		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)		GAGGAAGTGTCGGTGACAGGA	0.597000														2			3		0	0	0.004672	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	144367	144367	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chrGL000209.1:144367C>T	uc002quo.2	+	5	741	c.722C>T	c.(721-723)cCc>cTc	p.P241L	KIR2DL2_uc021vdc.1_Missense_Mutation_p.P241L|KIR2DL2_uc021vdd.1_Missense_Mutation_p.P241L|KIR2DL2_uc010evk.1_Missense_Mutation_p.P141L|KIR2DL2_uc010evl.1_Missense_Mutation_p.P43L|KIR2DL2_uc002qun.2_Missense_Mutation_p.P224L	NM_012312	NP_036444	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 (KIR2DS2), mRNA.	241					regulation of immune response	integral to membrane|plasma membrane	receptor activity										CCAGGTAACCCCAGACACCTG	0.443000														82			3		0	0	0.004672	0	0
FAM179A	165186	broad.mit.edu	37	2	29247207	29247207	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:29247207G>A	uc010ezl.3	+	12	2171	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	FAM179A_uc010ymm.2_Missense_Mutation_p.R552H|FAM179A_uc002rmr.4_Missense_Mutation_p.R134H	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	607							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCCTTGCCCGCTCCCTGGTG	0.627000														19			5		0	0	0.021553	0	0
MST1P2	11209	broad.mit.edu	37	1	16974224	16974224	+	RNA	SNP	C	G	G	rs148702086	by1000genomes	TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:16974224C>G	uc009vow.2	+	4		c.1034C>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TTGGTCCCAGCCCCAGAGGGA	0.652000														12			4		0	0	0.021553	0	0
KIF9	64147	broad.mit.edu	37	3	47312946	47312946	+	Silent	SNP	A	G	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:47312946A>G	uc010hjp.3	-	5	976	c.372T>C	c.(370-372)ttT>ttC	p.F124F	KIF9_uc003cqx.3_Silent_p.F124F|KIF9_uc003cqy.3_Silent_p.F124F|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	124	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CGATCATCCTAAAAACCTAGA	0.483000														114			3		0	0	0.009096	0	0
MLL2	8085	broad.mit.edu	37	19	36218411	36218411	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr19:36218411C>T	uc021usv.1	+	15	4190	c.4190C>T	c.(4189-4191)gCg>gTg	p.A1397V	MLL2_uc021usu.1_Missense_Mutation_p.A211V	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1568	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCTGGGGCAGCGCAGCCCCGC	0.657000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				152			5		0	0	0.029380	0	0
KIF20B	9585	broad.mit.edu	37	10	91477448	91477448	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:91477448A>G	uc001kgs.1	+	10	1312	c.1240A>G	c.(1240-1242)Att>Gtt	p.I414V	KIF20B_uc001kgr.1_Missense_Mutation_p.I414V	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	414					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GGGAAAGTGTATTAACGTCTT	0.313000														194			6		0	0	0.021553	0	0
CLIP1	6249	broad.mit.edu	37	12	122758652	122758652	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr12:122758652T>C	uc001ucg.2	-	24	4179	c.4024A>G	c.(4024-4026)Atg>Gtg	p.M1342V	CLIP1_uc001uch.1_Missense_Mutation_p.M1331V|CLIP1_uc001uci.1_Missense_Mutation_p.M1296V|CLIP1_uc001ucf.1_Missense_Mutation_p.M1V	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1342					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCCACCTTCATCTTGAGGTCT	0.343000														197			127		0	0	0.048971	0	0
C10orf12	26148	broad.mit.edu	37	10	98709000	98709000	+	Missense_Mutation	SNP	C	G	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:98709000C>G	uc001kmu.2	+	5	749	c.186C>G	c.(184-186)gaC>gaG	p.D62E	C10orf12_uc001kmr.3_Missense_Mutation_p.D62E|C10orf12_uc001kms.2_Missense_Mutation_p.D62E|C10orf12_uc009xvg.2_Missense_Mutation_p.D62E	NM_032440	NP_115816	Q8N655	CJ012_HUMAN	Homo sapiens ligand dependent nuclear receptor corepressor (LCOR), transcript variant 1, mRNA.	267										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTGACCAAGACTCACCTCTGG	0.483000														125			77		0	0	0.048971	0	0
FAM83H	286077	broad.mit.edu	37	8	144808629	144808629	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr8:144808629C>T	uc003yzk.3	-	4	3071	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1001					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGTGACAGACGCCGCGGGCT	0.697000														8			6		0	0	0.029380	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148834	70148834	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chrX:70148834C>A	uc004dyn.3	-	2	563	c.389G>T	c.(388-390)cGg>cTg	p.R130L	SLC7A3_uc004dyo.3_Missense_Mutation_p.R130L	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	130					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTCCAGGCCCGGGCCACACT	0.547000														46			3		0.00909568	0.00974537	0.009096	1	0
TSHR	7253	broad.mit.edu	37	14	81610525	81610525	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr14:81610525G>T	uc001xvd.1	+	9	2279	c.2123G>T	c.(2122-2124)gGg>gTg	p.G708V		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	708					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.R707W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCATACCGGGGGCAGAGGGTT	0.498000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							113			58		1.20869e-33	1.43135e-33	0.048971	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118114	118114	+	RNA	SNP	C	T	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chrGL000205.1:118114C>T	uc002kgk.4	+	0		c.1492C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CTCTCACTGCCTGCTACAGCC	0.552000														76			9		0	0	0.047766	0	0
OR14A16	284532	broad.mit.edu	37	1	247978653	247978653	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:247978653G>T	uc001idm.1	-	0	379	c.379C>A	c.(379-381)Cct>Act	p.P127T		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TAGTGCAGAGGGTGACATATA	0.512000														126			55		1.14385e-22	1.31983e-22	0.048971	1	0
WDR75	84128	broad.mit.edu	37	2	190313123	190313123	+	Silent	SNP	T	C	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:190313123T>C	uc002uql.1	+	1	165	c.105T>C	c.(103-105)tcT>tcC	p.S35S	WDR75_uc002uqm.1_5'UTR|WDR75_uc002uqn.1_5'UTR	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	35						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCTGTGTCTCTGGAGACTTTG	0.368000														55			33		0	0	0.054565	0	0
COL6A3	1293	broad.mit.edu	37	2	238280668	238280668	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:238280668C>T	uc002vwl.2	-	8	4277	c.3992G>A	c.(3991-3993)cGc>cAc	p.R1331H	COL6A3_uc002vwo.2_Missense_Mutation_p.R1125H|COL6A3_uc010znj.1_Missense_Mutation_p.R724H|COL6A3_uc002vwq.3_Missense_Mutation_p.R1125H|COL6A3_uc002vwr.3_Missense_Mutation_p.R924H	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1331	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTTCAATGCGGCTCCCCAG	0.632000														39			28		0	0	0.108266	0	0
NBPF1	55672	broad.mit.edu	37	1	16902764	16902764	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:16902764G>A	uc009vos.1	-	18	3005	c.2117C>T	c.(2116-2118)cCa>cTa	p.P706L	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Missense_Mutation_p.P164L|NBPF1_uc010oce.1_Missense_Mutation_p.P435L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	706						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CACCTTACCTGGGCTGAGCTT	0.537000														588			15		0	0	0.076483	0	0
DLX5	1749	broad.mit.edu	37	7	96651642	96651642	+	Missense_Mutation	SNP	C	A	A			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr7:96651642C>A	uc003uon.3	-	1	603	c.395G>T	c.(394-396)gGc>gTc	p.G132V	DLX5_uc011kim.1_Missense_Mutation_p.G132V	NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	132					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTTTGGTTTGCCATTCACCAT	0.463000														89			53		7.91745e-34	9.62933e-34	0.048971	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									63			28		0	0	0.037714	0	0
SLC25A36	55186	broad.mit.edu	37	3	140682063	140682063	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:140682063A>G	uc003etr.2	+	3	614	c.379A>G	c.(379-381)Atg>Gtg	p.M127V	SLC25A36_uc003etp.3_Missense_Mutation_p.M127V|SLC25A36_uc003ets.2_Missense_Mutation_p.M127V|SLC25A36_uc003etq.2_5'UTR|SLC25A36_uc011bmz.1_Missense_Mutation_p.M101V	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	Homo sapiens solute carrier family 25, member 36 (SLC25A36), transcript variant 1, mRNA.	127					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTCAGCTGCAATGGCAGGTAT	0.289000														85			45		0	0	0.104719	0	0
SMOC1	64093	broad.mit.edu	37	14	70490099	70490099	+	Missense_Mutation	SNP	A	T	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr14:70490099A>T	uc001xlt.2	+	10	1508	c.1226A>T	c.(1225-1227)gAc>gTc	p.D409V	SMOC1_uc001xls.2_Missense_Mutation_p.D409V	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	409	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GACTACTGTGACCTGAACAAA	0.522000														176			5		0	0	0.014758	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	T	T	rs3969711		TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:145296373G>T	uc021oul.1	+	2	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.V99F|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	99								p.V99F(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000														89			5		5.18039e-06	5.82794e-06	0.038147	1	0
SFMBT2	57713	broad.mit.edu	37	10	7214050	7214050	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:7214050C>T	uc009xio.2	-	18	2313	c.2222G>A	c.(2221-2223)cGg>cAg	p.R741Q	SFMBT2_uc001ijn.2_Missense_Mutation_p.R741Q|SFMBT2_uc010qay.2_Missense_Mutation_p.R576Q	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	741					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGTCATCCCGGAGCTCGGA	0.692000														16			9		0	0	0.080935	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795535	69795535	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr4:69795535T>C	uc003hef.2	-	5	1611	c.1580A>G	c.(1579-1581)gAa>gGa	p.E527G	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	527						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAAGATCTATTCCCTCTTTTC	0.328000														67			35		0	0	0.059317	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227348328	227348328	+	Silent	SNP	T	C	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:227348328T>C	uc001hqr.3	-	5	1552	c.609A>G	c.(607-609)aaA>aaG	p.K203K	CDC42BPA_uc001hqs.3_Silent_p.K203K|CDC42BPA_uc009xes.3_Silent_p.K203K|CDC42BPA_uc010pvs.2_Silent_p.K203K	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	203	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TATTGTCAGGTTTAATGTCTC	0.284000														99			50		0	0	0.048971	0	0
FAN1	22909	broad.mit.edu	37	15	31202868	31202868	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr15:31202868A>G	uc001zff.3	+	3	1718	c.1427A>G	c.(1426-1428)gAa>gGa	p.E476G	FAN1_uc001zfc.3_Missense_Mutation_p.E476G|FAN1_uc010azw.2_Missense_Mutation_p.E476G|FAN1_uc001zfd.3_Missense_Mutation_p.E476G|FAN1_uc001zfe.3_Missense_Mutation_p.E81G	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	476					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TCTGCTCCTGAACTAAAATCC	0.403000								Direct reversal of damage						108			6		0	0	0.029380	0	0
MUC4	4585	broad.mit.edu	37	3	195505813	195505813	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:195505813T>C	uc021xjp.1	-	1	12794	c.12638A>G	c.(12637-12639)gAc>gGc	p.D4213G	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	970					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.D4213G(2)		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)		TGAGGAAGTGTCGGTGACAGG	0.592000														3			2		0	0	0.004672	0	0
PTPN5	84867	broad.mit.edu	37	11	18754164	18754164	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr11:18754164T>C	uc001mpd.3	-	11	1735	c.1304A>G	c.(1303-1305)tAc>tGc	p.Y435C	PTPN5_uc001mpb.3_Missense_Mutation_p.Y403C|PTPN5_uc001mpc.3_Missense_Mutation_p.Y435C|PTPN5_uc010rdj.2_Missense_Mutation_p.Y379C|PTPN5_uc001mpf.3_Missense_Mutation_p.Y411C|PTPN5_uc001mpe.3_Missense_Mutation_p.Y403C|PTPN5_uc010rdk.2_Missense_Mutation_p.Y380C	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	435	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCGCAGCCGGTAATCCTCCGT	0.592000											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		258			6		0	0	0.038147	0	0
DMKN	93099	broad.mit.edu	37	19	36002345	36002345	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr19:36002345T>C	uc002nzm.4	-	4	1069	c.886A>G	c.(886-888)Agc>Ggc	p.S296G	DMKN_uc002nzj.3_5'Flank|DMKN_uc002nzl.4_5'Flank|DMKN_uc002nzk.4_5'Flank|DMKN_uc002nzo.4_Intron|DMKN_uc002nzn.4_Intron|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc010xsw.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc002nzx.4_5'Flank|DMKN_uc002nzy.4_5'Flank|DMKN_uc002nzz.3_Missense_Mutation_p.S296G|DMKN_uc002oaa.4_Missense_Mutation_p.S296G|DMKN_uc002oab.4_Missense_Mutation_p.S296G|DMKN_uc002oac.4_Missense_Mutation_p.S296G	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	296	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCACCTctgctgccaccactg	0.647000														4			6		0	0	0.093190	0	0
HPR	3250	broad.mit.edu	37	16	72110680	72110680	+	Silent	SNP	C	T	T			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr16:72110680C>T	uc002fby.3	+	4	777	c.747C>T	c.(745-747)taC>taT	p.Y249Y	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	249	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTGACCAATACGATTGCATAA	0.507000														67			35		0	0	0.054565	0	0
PIK3R1	5295	broad.mit.edu	37	5	67522794	67522795	+	Frame_Shift_Ins	INS	-	G	G			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr5:67522794_67522795insG	uc003jva.3	+	1	871_872	c.291_292insG	c.(289-294)gttgcafs	p.V97fs		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	97					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTCTTCCTGTTGCACCAGGTTC	0.455			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			---	98	---	---	36	---					
KDM4C	23081	broad.mit.edu	37	9	7128074	7128075	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr9:7128074_7128075delGG	uc003zkh.3	+	18	3199_3200	c.2619_2620delGG	c.(2617-2622)aaggctfs	p.K873fs	KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Frame_Shift_Del_p.K873fs|KDM4C_uc011lmk.2_Frame_Shift_Del_p.K618fs|KDM4C_uc011lml.2_Frame_Shift_Del_p.K560fs	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	873					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGAAGTCCAAGGCTTGCGAGAA	0.411													---	79	---	---	34	---					
