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
ITGAM	3684	broad.mit.edu	37	16	31283280	31283280	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr16:31283280G>A	uc002ebr.3	+	6	769	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	ITGAM_uc002ebq.3_Missense_Mutation_p.R224Q	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	224	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.G223W(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGCTTGGGCGGACACACACG	0.512000													4	142					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283858	33283858	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr6:33283858G>T	uc003oeb.3	-	1	988	c.836C>A	c.(835-837)gCt>gAt	p.A279D	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.A279D|ZBTB22_uc021ywm.1_Missense_Mutation_p.A279D	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCGGAGCCCAGCCCCAGGAAC	0.617000													24	59					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120389285	120389285	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr3:120389285C>G	uc003edw.3	-	3	731	c.271G>C	c.(271-273)Gat>Cat	p.D91H		NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	91					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGGTTAGGATCAGGATCAACT	0.418000													26	72					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30012630	30012630	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr15:30012630A>C	uc010azl.3	-	17	2668	c.2659T>G	c.(2659-2661)Tca>Gca	p.S887A	TJP1_uc001zcq.3_Missense_Mutation_p.S903A|TJP1_uc001zcr.3_Missense_Mutation_p.S899A|TJP1_uc001zcs.3_Missense_Mutation_p.S899A	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	899					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction		p.S886P(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCTTGTGGTGAGTAAGGAGGA	0.483000													28	78					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112335096	112335096	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr10:112335096A>G	uc001kze.3	+	3	259	c.133A>G	c.(133-135)Att>Gtt	p.I45V		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	45					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.A44V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATTTCCAGCAATTCAGTTTGT	0.338000													17	26					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153763439	153763439	+	Silent	SNP	G	G	C			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chrX:153763439G>C	uc004flx.1	-	4	667	c.519C>G	c.(517-519)ccC>ccG	p.P173P	G6PD_uc004fly.1_Silent_p.P143P	NM_000402	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 1, mRNA.	143					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACGGTCGGGGGCAAGGCCA	0.627000													4	170					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111099179	111099179	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr13:111099179C>T	uc001vqx.3	+	17	1335	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	349	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGGACTACCTGCCTACTCC	0.483000													5	162					0	0	1	0	0
EGFL8	80864	broad.mit.edu	37	6	32135285	32135285	+	Silent	SNP	C	C	T	rs146401113	byFrequency	TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr6:32135285C>T	uc003oab.1	+	7	794	c.687C>T	c.(685-687)gcC>gcT	p.A229A	EGFL8_uc003nzy.2_Non-coding_Transcript|EGFL8_uc003oac.1_Silent_p.A229A	NM_030652	NP_085155	Q99944	EGFL8_HUMAN	Homo sapiens EGF-like-domain, multiple 8 (EGFL8), transcript variant 1, mRNA.	229						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TCTAGTGGGCCGGTCAGGCTG	0.677000													26	48					0	0	1	0	0
GNG5	2787	broad.mit.edu	37	1	84967626	84967626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr1:84967626G>A	uc001djw.4	-	2	463	c.109C>T	c.(109-111)Cag>Tag	p.Q37*		NM_005274	NP_005265	P63218	GBG5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 5 (GNG5), mRNA.	37					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.K36N(1)		lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AGACAGAACTGTTTCAAGTCT	0.438000													14	34					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516466	1516466	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr7:1516466C>G	uc003skn.2	-	35	5128	c.5027G>C	c.(5026-5028)tGc>tCc	p.C1676S		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1676					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GACTCGGATGCACTGGTGCAG	0.652000													13	27					0	0	1	0	0
HSPE1-MOB4	100529241	broad.mit.edu	37	2	198413081	198413081	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr2:198413081A>G	uc021vum.1	+	6	924	c.484A>G	c.(484-486)Aga>Gga	p.R162G	HSPE1-MOB4_uc002uum.4_Missense_Mutation_p.R94G|HSPE1-MOB4_uc002uun.4_Missense_Mutation_p.R126G|HSPE1-MOB4_uc010fsn.3_Missense_Mutation_p.R105G|HSPE1-MOB4_uc010fso.3_Missense_Mutation_p.R27G|HSPE1-MOB4_uc010zgz.2_Missense_Mutation_p.R27G|HSPE1-MOB4_uc021vun.1_Missense_Mutation_p.R94G	NM_001202485	NP_001189414			Homo sapiens HSPE1-MOB4 readthrough (HSPE1-MOB4), mRNA.																		AGACTATACTAGACACACACT	0.323000													10	57					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72992835	72992835	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr7:72992835C>A	uc003tyh.3	-	0	179	c.45G>T	c.(43-45)ttG>ttT	p.L15F	TBL2_uc011kex.2_5'Flank|TBL2_uc010lbg.3_5'UTR|TBL2_uc003tyi.3_5'UTR|TBL2_uc011key.2_5'UTR	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	15								p.V14L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCAGCCCAAGCAACACCGACA	0.711000													7	14					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75230940	75230940	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr14:75230940C>T	uc001xqj.4	+	0	872	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCACCACCACCGTCCGCCCC	0.567000													10	39					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825377	4825377	+	Silent	SNP	G	G	A			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr11:4825377G>A	uc021qcs.1	-	0	234	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTGAGTGGAGGAGGAGAGGA	0.488000													3	56					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941609	144941609	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr8:144941609C>T	uc003zaa.1	-	0	5826	c.5813G>A	c.(5812-5814)gGg>gAg	p.G1938E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1938						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.G1938W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGAGGAACCCGGTGGCGGC	0.652000													4	52					0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005674	37005674	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr19:37005674T>G	uc002oee.2	-	3	1389	c.467A>C	c.(466-468)aAa>aCa	p.K156T	ZNF260_uc010eey.2_Missense_Mutation_p.K156T|ZNF260_uc002oef.2_Missense_Mutation_p.K156T|ZNF260_uc002oed.2_Missense_Mutation_p.K156T|ZNF260_uc021uti.1_Missense_Mutation_p.K156T	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	156					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AGTATGAATTTTCTCATGCTC	0.398000													38	87					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190732589	190732589	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr2:190732589A>G	uc002urh.4	+	10	2936	c.2407A>G	c.(2407-2409)Agt>Ggt	p.S803G	PMS1_uc002urk.4_Missense_Mutation_p.S764G|PMS1_uc002uri.4_Missense_Mutation_p.S641G|PMS1_uc010zgc.2_Missense_Mutation_p.S627G|PMS1_uc010zgd.2_Missense_Mutation_p.S627G|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Intron|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.S426G|PMS1_uc002urm.3_Non-coding_Transcript	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	803					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CCAAAGATACAGTGGATCAAC	0.323000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					16	30					0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129456049	129456051	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr9:129456049_129456051delCAG	uc011maa.2	+	5	851_853	c.844_846delCAG	c.(844-846)cagdel	p.Q285del	LMX1B_uc004bqi.3_In_Frame_Del_p.Q285del|LMX1B_uc004bqj.3_In_Frame_Del_p.Q285del	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	262					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCGGCGGCACCAGCAGCAGCAGG	0.754									Nail-Patella Syndrome				2	4	---	---	---	---					
GRIN2D	2906	broad.mit.edu	37	19	48946470	48946471	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr19:48946470_48946471insC	uc002pjc.4	+	12	3375_3376	c.3287_3288insC	c.(3286-3288)tgcfs	p.C1096fs	GRIN2D_uc010elx.3_Frame_Shift_Ins_p.C331fs|GRWD1_uc002pjd.2_5'Flank	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	1096						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	ccgcccccgtgccgcgccgcgc	0.817													2	4	---	---	---	---