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
EFEMP2	30008	broad.mit.edu	37	11	65637423	65637423	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:65637423G>C	ENST00000307998.6	-	7	862	c.632C>G	c.(631-633)gCc>gGc	p.A211G	EFEMP2_ENST00000528176.1_Missense_Mutation_p.A211G	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	211	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	p.A211G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CTCGCATGGGGCCCCCATGTC	0.607000													9	127					0	0	0.058154	0	0
PRDM9	56979	broad.mit.edu	37	5	23526359	23526359	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:23526359C>T	ENST00000296682.3	+	11	1344	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	388					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.H388Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCCAGAGATCCATCCATGTCC	0.438000										HNSCC(3;0.000094)			53	92					0	0	0.048971	0	0
MED14	9282	broad.mit.edu	37	X	40572273	40572273	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:40572273C>T	ENST00000324817.1	-	6	792	c.674G>A	c.(673-675)cGt>cAt	p.R225H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	225	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R225H(2)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTTCAACACGAAACTTCAC	0.403000													11	3					0	0	0.069234	0	0
NTM	50863	broad.mit.edu	37	11	132180059	132180059	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:132180059G>T	ENST00000374786.1	+	5	1194	c.715G>T	c.(715-717)Ggg>Tgg	p.G239W	NTM_ENST00000374791.3_Missense_Mutation_p.G239W|NTM_ENST00000539799.1_Missense_Mutation_p.G239W|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.G239W|NTM_ENST00000427481.2_Missense_Mutation_p.G230W|NTM_ENST00000425719.2_Missense_Mutation_p.G239W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	239	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.G239W(2)		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						GGGACAAAAGGGGACACTGCA	0.498000													18	169					5.35267e-07	5.78088e-07	0.043863	1	0
ZMYM3	9203	broad.mit.edu	37	X	70461111	70461111	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:70461111G>T	ENST00000373998.1	-	24	4547	c.3850C>A	c.(3850-3852)Cct>Act	p.P1284T	ZMYM3_ENST00000353904.2_Missense_Mutation_p.P1296T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1296					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.P1296T(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AACTTGACAGGGCAGCGGAGG	0.507000													5	23					5.9392e-07	6.32994e-07	0.021553	1	0
SLC10A2	6555	broad.mit.edu	37	13	103710721	103710721	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr13:103710721G>T	ENST00000245312.3	-	2	985	c.389C>A	c.(388-390)aCc>aAc	p.T130N		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	130					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.T130N(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGAGCATGTGGTCATGCTGAC	0.433000													5	51					1.23904e-05	1.30341e-05	0.014758	1	0
TTN	7273	broad.mit.edu	37	2	179435374	179435374	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr2:179435374C>G	ENST00000589042.1	-	326	75709	c.75485G>C	c.(75484-75486)aGc>aCc	p.S25162T	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S16289T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S16097T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S23521T|TTN_ENST00000359218.5_Missense_Mutation_p.S16222T|TTN_ENST00000342992.6_Missense_Mutation_p.S22594T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23521	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S16097T(2)|p.S22594T(1)|p.S16222T(1)|p.S16289T(1)|p.S22592T(1)		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)			AAAGTCGGTGCTCTTTATTTC	0.408000													36	71					0	0	0.064281	0	0
SLC24A6	0	broad.mit.edu	37	12	113748108	113748108	+	Silent	SNP	G	G	T	rs138371135		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr12:113748108G>T	ENST00000552014.1	-	13	1703	c.1188C>A	c.(1186-1188)atC>atA	p.I396I	SLC24A6_ENST00000202831.3_Silent_p.I396I|SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Silent_p.I340I			Q6J4K2	NCKX6_HUMAN		396					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	p.I396I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CTGTGCCTGCGATCACCACCA	0.587000													50	56					3.4597e-24	3.94698e-24	0.048971	1	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033605	26033605	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:26033605C>T	ENST00000259791.2	-	1	191	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	64					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L64L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGCCAGCTCCAGGATCTCGG	0.637000													11	56					0	0	0.080935	0	0
CYB5R2	51700	broad.mit.edu	37	11	7690490	7690490	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:7690490C>T	ENST00000533558.1	-	5	890	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	CYB5R2_ENST00000299497.9_Missense_Mutation_p.G112R|CYB5R2_ENST00000299498.6_Missense_Mutation_p.G112R|CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000524790.1_Missense_Mutation_p.G112R			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	112	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	p.G112R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGGTCTCCCCGATTTTCATG	0.483000													15	115					0	0	0.024245	0	0
SLC25A25	114789	broad.mit.edu	37	9	130854176	130854176	+	Silent	SNP	A	A	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:130854176A>G	ENST00000373066.5	+	1	434	c.27A>G	c.(25-27)ctA>ctG	p.L9L	SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000373068.2_Intron|RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Silent_p.L9L	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	0					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.L9L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GGCATTTCCTAGCTAGCTTTT	0.577000													95	161					0	0	0.048971	0	0
TBXA2R	0	broad.mit.edu	37	19	3600542	3600542	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr19:3600542C>T	ENST00000375190.4	-	2	484	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	TBXA2R_ENST00000589966.1_Missense_Mutation_p.A31T|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A31T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	31					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	p.A31T(1)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AAGGAGGCGGCGAACCAGGGC	0.697000													9	23					0	0	0.058154	0	0
ASIC2	40	broad.mit.edu	37	17	32483118	32483118	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:32483118T>G	ENST00000359872.6	-	1	1195	c.434A>C	c.(433-435)cAc>cCc	p.H145P		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	145					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.H145P(1)								Amiloride(DB00594)	GGGTTTGTAGTGCTTGAAGTT	0.592000													16	132					0	0	0.033300	0	0
FUT10	84750	broad.mit.edu	37	8	33246843	33246843	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:33246843C>T	ENST00000327671.5	-	4	1481	c.850G>A	c.(850-852)Gtt>Att	p.V284I	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.V256I|FUT10_ENST00000335589.3_Missense_Mutation_p.V222I|FUT10_ENST00000518672.1_Missense_Mutation_p.V256I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	284					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.V284I(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCATCACAAACTGCATTCTCA	0.468000													8	46					0	0	0.038147	0	0
CROCCP2	0	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													4	15					0	0	0.014758	0	0
CCDC54	84692	broad.mit.edu	37	3	107096617	107096617	+	Silent	SNP	C	C	T	rs144553244		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:107096617C>T	ENST00000261058.1	+	1	430	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	61								p.D61D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATAGTTATGACGGAAAAATGA	0.363000													8	89					0	0	0.038147	0	0
FAM83H	286077	broad.mit.edu	37	8	144811144	144811144	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:144811144T>C	ENST00000388913.3	-	4	855	c.730A>G	c.(730-732)Agc>Ggc	p.S244G		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	244					biomineral tissue development			p.S244G(1)		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)			CACCTGTAGCTCCCACTCATC	0.662000													8	108					0	0	0.047766	0	0
ARID1B	57492	broad.mit.edu	37	6	157522425	157522425	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:157522425G>A	ENST00000346085.5	+	18	4698	c.4697G>A	c.(4696-4698)cGc>cAc	p.R1566H	ARID1B_ENST00000367148.1_Missense_Mutation_p.R1606H|ARID1B_ENST00000350026.5_Missense_Mutation_p.R1553H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R1548H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1553	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.R1548H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGGAGAACCGCATGTCTCCA	0.622000													4	168					0	0	0.009096	0	0
KCNB1	3745	broad.mit.edu	37	20	47991220	47991220	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr20:47991220G>A	ENST00000371741.4	-	2	1043	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	293					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R293C(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACCACGCGGCGGACATTCTGG	0.542000													3	89					0	0	0.009096	0	0
ZNF622	90441	broad.mit.edu	37	5	16465318	16465318	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:16465318T>A	ENST00000308683.2	-	1	583	c.457A>T	c.(457-459)Aag>Tag	p.K153*		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	153						cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.K153*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGGCCTCCTTTGCAGGCGCT	0.642000													13	113					0	0	0.024245	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	68					0	0	0.021553	0	0
SLX4	84464	broad.mit.edu	37	16	3640329	3640329	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr16:3640329G>A	ENST00000294008.3	-	12	3950	c.3310C>T	c.(3310-3312)Cgg>Tgg	p.R1104W		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1104	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.R1104R(1)|p.R1104W(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGCACGGACCGACGCTCTTTG	0.532000								Direct reversal of damage					5	137					0	0	0.021553	0	0
RDM1	201299	broad.mit.edu	37	17	34249537	34249537	+	Nonstop_Mutation	SNP	T	T	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:34249537T>G	ENST00000430160.2	-	4	1112	c.642A>C	c.(640-642)taA>taC	p.*214Y	RDM1_ENST00000425909.3_Intron|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000394528.3_Nonstop_Mutation_p.*237Y|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000419453.2_Intron|RDM1_ENST00000394529.3_Intron|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000293273.6_Intron			Q8NG50	RDM1_HUMAN	RAD52 motif 1	0					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	p.*237Y(1)		breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTTTATTTGCTTACTGAAACT	0.318000								Other identified genes with known or suspected DNA repair function					15	94					0	0	0.020292	0	0
TSPAN33	340348	broad.mit.edu	37	7	128807390	128807390	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr7:128807390G>A	ENST00000289407.4	+	7	848	c.739G>A	c.(739-741)Gcc>Acc	p.A247T		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	247						integral to membrane		p.A247T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TCTAGGCCTGGCCATCCCCCA	0.507000													4	137					0	0	0.014758	0	0
PCDHGA1	0	broad.mit.edu	37	5	140711178	140711178	+	Silent	SNP	C	C	T	rs148638556		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:140711178C>T	ENST00000517417.1	+	1	927	c.927C>T	c.(925-927)ttC>ttT	p.F309F	PCDHGA1_ENST00000378105.3_Silent_p.F309F	NM_018912.2	NP_061735.1												p.F309F(3)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTAGATTTCGAAGAATACA	0.373000													6	44					0	0	0.021553	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123171436	123171436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:123171436C>A	ENST00000349780.4	-	30	4752	c.4573G>T	c.(4573-4575)Gag>Tag	p.E1525*	CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E1484*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E1493*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E1525*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1525					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.E1525*(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGCGGACCTCCTGGATCAGC	0.612000													5	70					0.014758	0.0153256	0.014758	1	0
ZMYM1	79830	broad.mit.edu	37	1	35579021	35579021	+	Silent	SNP	A	A	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:35579021A>G	ENST00000373330.1	+	11	1764	c.1590A>G	c.(1588-1590)caA>caG	p.Q530Q	ZMYM1_ENST00000359858.4_Silent_p.Q530Q|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	530						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	p.Q530Q(1)		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)				GAGAATACCAATTTTGTGATG	0.318000													16	181					0	0	0.043863	0	0
GPR128	84873	broad.mit.edu	37	3	100373726	100373726	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:100373726T>C	ENST00000273352.3	+	12	1695	c.1427T>C	c.(1426-1428)aTa>aCa	p.I476T	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.I181T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	476					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I476T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATCTGTGCATATCAATGTTG	0.323000													3	57					0	0	0.004672	0	0
COQ6	51004	broad.mit.edu	37	14	74426130	74426130	+	Silent	SNP	T	T	C	rs113814754		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr14:74426130T>C	ENST00000334571.2	+	8	836	c.796T>C	c.(796-798)Ttg>Ctg	p.L266L	COQ6_ENST00000394026.4_Silent_p.L241L|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Silent_p.L191L|ENTPD5_ENST00000557325.1_3'UTR	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	266					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.L266L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CTCAGACACCTTGAGTTCCTT	0.448000													52	78					0	0	0.048971	0	0
DNAJC5B	85479	broad.mit.edu	37	8	67012255	67012255	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:67012255A>T	ENST00000276570.5	+	6	876	c.589A>T	c.(589-591)Aca>Tca	p.T197S	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	197					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.T197S(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGTTATTGCACAGACTCTTG	0.448000													4	24					0	0	0.014758	0	0
OR4D5	219875	broad.mit.edu	37	11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493000													36	140					0	0	0.069456	0	0
ZMYM3	9203	broad.mit.edu	37	X	70461110	70461110	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:70461110G>C	ENST00000373998.1	-	24	4548	c.3851C>G	c.(3850-3852)cCt>cGt	p.P1284R	ZMYM3_ENST00000353904.2_Missense_Mutation_p.P1296R|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296R|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206R|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298R	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1296					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.P1296R(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAACTTGACAGGGCAGCGGAG	0.512000													5	23					0	0	0.021553	0	0
SYCP1	6847	broad.mit.edu	37	1	115454198	115454198	+	Silent	SNP	C	C	T	rs148948913	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:115454198C>T	ENST00000369522.3	+	18	1764	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	SYCP1_ENST00000369518.1_Silent_p.N508N	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	508				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.N508N(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTTGAAAACGAGAAGTATG	0.249000													19	20					0	0	0.043863	0	0
TTN	7273	broad.mit.edu	37	2	179412022	179412022	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr2:179412022G>A	ENST00000589042.1	-	340	94454	c.94230C>T	c.(94228-94230)agC>agT	p.S31410S	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.S22537S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.S22345S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.S29769S|TTN_ENST00000359218.5_Silent_p.S22470S|TTN_ENST00000342992.6_Silent_p.S28842S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29769	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S22345S(2)|p.S22470S(1)|p.S28840S(1)|p.S22537S(1)|p.S28842S(1)		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)			TGGTAGGAGCGCTTGGTGGGA	0.378000													17	111					0	0	0.028581	0	0
PKHD1	5314	broad.mit.edu	37	6	51915071	51915071	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:51915071C>T	ENST00000371117.3	-	22	2438	c.2163G>A	c.(2161-2163)acG>acA	p.T721T	PKHD1_ENST00000340994.4_Silent_p.T721T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	721					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.T721T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGGCGAGCCGTTCCAGAAT	0.537000											OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	92					0	0	0.038147	0	0
DVL1	1855	broad.mit.edu	37	1	1271546	1271546	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:1271546G>A	ENST00000378888.5	-	15	2348	c.2064C>T	c.(2062-2064)tgC>tgT	p.C688C	DVL1_ENST00000378891.5_Silent_p.C663C			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	688					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	p.C663C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGAAGAACTCGCAGGGGTTCC	0.692000													3	11					0	0	0.014758	0	0
SRPK1	6732	broad.mit.edu	37	6	35810383	35810383	+	Splice_Site	SNP	T	T	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:35810383T>A	ENST00000373825.2	-	14	1906		c.e14-2		SRPK1_ENST00000423325.2_Splice_Site|SRPK1_ENST00000373822.1_Splice_Site			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1						cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.?(2)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCAAAGGCCTAAAAAAAAAA	0.418000													3	45					0	0	0.009096	0	0
NIPBL	25836	broad.mit.edu	37	5	37038824	37038824	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:37038824T>A	ENST00000282516.8	+	34	6591	c.6092T>A	c.(6091-6093)cTt>cAt	p.L2031H	NIPBL_ENST00000448238.2_Missense_Mutation_p.L2031H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2031					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.L2031H(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAACCATACCTTACCACTAAA	0.348000													5	51					0	0	0.014758	0	0
ZNF576	79177	broad.mit.edu	37	19	44103050	44103050	+	Silent	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr19:44103050T>C	ENST00000336564.4	+	3	307	c.153T>C	c.(151-153)cgT>cgC	p.R51R	ZNF576_ENST00000528387.1_Silent_p.R51R|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Silent_p.R51R|ZNF576_ENST00000533118.1_Silent_p.R51R|ZNF576_ENST00000529930.1_Silent_p.R51R|ZNF576_ENST00000391965.2_Silent_p.R51R|SRRM5_ENST00000526798.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R51R(1)		endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				TCCAGGAGCGTCACATGAAGC	0.647000													4	143					0	0	0.021553	0	0
NFASC	23114	broad.mit.edu	37	1	204985573	204985573	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:204985573G>A	ENST00000367172.4	+	32	4278	c.3950G>A	c.(3949-3951)gGc>gAc	p.G1317D	NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338515.6_Missense_Mutation_p.G1227D|NFASC_ENST00000367171.4_Missense_Mutation_p.G1302D|NFASC_ENST00000367170.4_Missense_Mutation_p.G1238D|NFASC_ENST00000404076.1_Missense_Mutation_p.G1127D|NFASC_ENST00000339876.6_Missense_Mutation_p.G1210D|NFASC_ENST00000539706.1_Missense_Mutation_p.G1144D|NFASC_ENST00000360049.4_Missense_Mutation_p.G1139D|NFASC_ENST00000404907.1_Missense_Mutation_p.G1144D|NFASC_ENST00000338586.6_Missense_Mutation_p.G1194D|NFASC_ENST00000513543.1_Missense_Mutation_p.G1139D|NFASC_ENST00000401399.1_Missense_Mutation_p.G1210D|NFASC_ENST00000367169.4_Missense_Mutation_p.G1041D			O94856	NFASC_HUMAN	neurofascin	1317					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.G1139D(1)|p.G1210D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCTTCATCGGCCAGTACACG	0.562000													4	128					0	0	0.009096	0	0
OR10K2	391107	broad.mit.edu	37	1	158390384	158390384	+	Silent	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:158390384G>T	ENST00000314902.2	-	1	272	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91T(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGAAAGAAATGGTCTTCTTCT	0.478000													17	262					9.16793e-09	1.01726e-08	0.033300	1	0
BHMT	635	broad.mit.edu	37	5	78415119	78415119	+	Silent	SNP	A	A	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:78415119A>T	ENST00000274353.5	+	3	311	c.204A>T	c.(202-204)tcA>tcT	p.S68S	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	68	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.S68S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GAGCTGGCTCAAACGTCATGC	0.448000													33	41					0	0	0.069456	0	0
KIAA1551	55196	broad.mit.edu	37	12	32134717	32134717	+	Silent	SNP	A	A	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr12:32134717A>G	ENST00000312561.4	+	4	1242	c.828A>G	c.(826-828)agA>agG	p.R276R	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551									p.R276R(1)									CTGACAAAAGACCTCCTCCTC	0.418000													5	94					0	0	0.014758	0	0
ATG10	83734	broad.mit.edu	37	5	81354375	81354375	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:81354375C>G	ENST00000282185.3	+	3	464	c.170C>G	c.(169-171)tCa>tGa	p.S57*	ATG10_ENST00000513443.1_Nonsense_Mutation_p.S57*|ATG10_ENST00000513634.1_Nonsense_Mutation_p.S57*|ATG10_ENST00000458350.3_Nonsense_Mutation_p.S57*|ATG10_ENST00000355178.4_Nonsense_Mutation_p.S57*	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	57					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	p.S57*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		TCTGTGATGTCACATCTAGGA	0.373000													28	227					0	0	0.037714	0	0
FAM193A	8603	broad.mit.edu	37	4	2648484	2648484	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr4:2648484C>T	ENST00000324666.5	+	5	714	c.363C>T	c.(361-363)tcC>tcT	p.S121S	FAM193A_ENST00000382839.3_Silent_p.S121S|FAM193A_ENST00000545951.1_Silent_p.S121S|FAM193A_ENST00000505311.1_Silent_p.S121S|FAM193A_ENST00000502458.1_Silent_p.S121S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	121								p.S121S(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACCAGCGTTCCGAGGAGGAGC	0.597000													10	142					0	0	0.058154	0	0
P4HTM	54681	broad.mit.edu	37	3	49028271	49028271	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:49028271G>A	ENST00000343546.4	+	2	728	c.360G>A	c.(358-360)ggG>ggA	p.G120G	P4HTM_ENST00000383729.4_Silent_p.G120G|P4HTM_ENST00000468374.1_3'UTR	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	120						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G120G(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTTAGGTGGGGCACGAGCGTA	0.662000													3	26					0	0	0.004672	0	0
ABCC11	85320	broad.mit.edu	37	16	48258247	48258247	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr16:48258247C>G	ENST00000394747.1	-	4	838	c.489G>C	c.(487-489)ttG>ttC	p.L163F	ABCC11_ENST00000537808.1_Missense_Mutation_p.L163F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L163F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L163F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L163F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	163	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L163F(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATCGAAAATCAACCTTGTTC	0.507000													8	25					0	0	0.038147	0	0
OR5T2	219464	broad.mit.edu	37	11	55999741	55999741	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:55999741C>T	ENST00000313264.4	-	1	996	c.921G>A	c.(919-921)tcG>tcA	p.S307S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S307S(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCATGGTCCGAAGCATAGC	0.408000													6	143					0	0	0.029380	0	0
INTS10	55174	broad.mit.edu	37	8	19690802	19690802	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:19690802G>A	ENST00000397977.3	+	12	1898	c.1500G>A	c.(1498-1500)gcG>gcA	p.A500A		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	500					snRNA processing	integrator complex	protein binding	p.A500A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TCCAGCTGGCGACGTGCCACT	0.607000													12	44					0	0	0.105934	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	54					0	0	0.009096	0	0
ZIC2	7546	broad.mit.edu	37	13	100635173	100635173	+	Silent	SNP	A	A	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr13:100635173A>G	ENST00000376335.3	+	1	1148	c.855A>G	c.(853-855)acA>acG	p.T285T		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	285					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T285T(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCTGGTGACACACGTCTCGG	0.582000													53	71					0	0	0.048971	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	55					0	0	0.009096	0	0
MXRA5	25878	broad.mit.edu	37	X	3227796	3227796	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:3227796G>A	ENST00000217939.6	-	7	8602	c.8448C>T	c.(8446-8448)ctC>ctT	p.L2816L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2816	Ig-like C2-type 12.					extracellular region		p.L2816L(3)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTCACTGCCGAGAATGTTTT	0.468000													20	3					0	0	0.055883	0	0
OR13C5	138799	broad.mit.edu	37	9	107361114	107361114	+	Missense_Mutation	SNP	C	C	T	rs76558719		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:107361114C>T	ENST00000374779.2	-	1	674	c.581G>A	c.(580-582)gGc>gAc	p.G194D		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G194D(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GAACTCATTGCCTGAGATGTC	0.383000													5	177					0	0	0.021553	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	94					0	0	0.004672	0	0
LELP1	149018	broad.mit.edu	37	1	153177307	153177307	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:153177307C>T	ENST00000368747.1	+	2	234	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	42	Cys/Pro-rich.							p.R42C(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTGCAACGCTGTTTCGA	0.552000													13	178					0	0	0.105934	0	0
HTR1A	3350	broad.mit.edu	37	5	63256567	63256567	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:63256567C>T	ENST00000323865.3	-	1	1213	c.980G>A	c.(979-981)cGc>cAc	p.R327H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	327					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.R327H(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTCGGCGTTGCGCTCATTTTT	0.622000													9	82					0	0	0.047766	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34804091	34804091	+	Silent	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:34804091G>T	ENST00000192788.5	+	8	1170	c.999G>T	c.(997-999)ctG>ctT	p.L333L	UHRF1BP1_ENST00000452449.2_Silent_p.L333L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	333								p.L333L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCTGGACCTGCACATTTGTG	0.577000													31	75					2.81731e-10	3.16948e-10	0.045705	1	0
SFRP2	6423	broad.mit.edu	37	4	154709740	154709740	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr4:154709740A>G	ENST00000274063.4	-	1	532	c.248T>C	c.(247-249)gTc>gCc	p.V83A		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	83	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	p.V83A(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CTGCTTCATGACCAGCGGGAT	0.627000													20	127					0	0	0.062417	0	0
GABRE	2564	broad.mit.edu	37	X	151138818	151138818	+	Missense_Mutation	SNP	T	T	C	rs61730039	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:151138818T>C	ENST00000370325.1	-	2	166	c.113A>G	c.(112-114)tAt>tGt	p.Y38C	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.Y38C			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	38					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y38C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGGCCATAGACAACATC	0.512000													81	15					0	0	0.048971	0	0
CBX8	57332	broad.mit.edu	37	17	77768836	77768836	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:77768836C>T	ENST00000269385.4	-	5	885	c.768G>A	c.(766-768)tcG>tcA	p.S256S		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	256					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	p.S256S(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCACCAGGTCCGAGTCCTGTC	0.627000													7	11					0	0	0.038147	0	0
PRG4	10216	broad.mit.edu	37	1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T597P(1)		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						ACCCACCACCACCAAGAAGCC	0.652000													6	69					0	0	0.047766	0	0
FIBCD1	84929	broad.mit.edu	37	9	133780631	133780631	+	Silent	SNP	G	G	A	rs142382814		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:133780631G>A	ENST00000372338.4	-	6	1358	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	FIBCD1_ENST00000448616.1_Silent_p.S372S|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Silent_p.S214S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	372	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	p.S372S(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CTGCAGTGCCGGAATAGTCAG	0.647000													8	19					0	0	0.069234	0	0
TXNIP	10628	broad.mit.edu	37	1	145439910	145439910	+	Silent	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:145439910T>C	ENST00000369317.4	+	3	790	c.456T>C	c.(454-456)aaT>aaC	p.N152N	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	152					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.N152N(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGATGTCAATACCCCTGATT	0.433000													32	128					0	0	0.045705	0	0
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612000													35	60					0	0	0.111260	0	0
EFEMP2	30008	broad.mit.edu	37	11	65637423	65637423	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr11:65637423G>C	ENST00000307998.6	-	7	862	c.632C>G	c.(631-633)gCc>gGc	p.A211G	EFEMP2_ENST00000528176.1_Missense_Mutation_p.A211G	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	211	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	p.A211G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CTCGCATGGGGCCCCCATGTC	0.607000													9	127					0	0	0.058154	0	0
ZMYM3	9203	broad.mit.edu	37	X	70461111	70461111	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chrX:70461111G>T	ENST00000373998.1	-	24	4547	c.3850C>A	c.(3850-3852)Cct>Act	p.P1284T	ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298T|ZMYM3_ENST00000353904.2_Missense_Mutation_p.P1296T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1296					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.P1296T(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AACTTGACAGGGCAGCGGAGG	0.507000													5	23					5.9392e-07	6.42403e-07	0.021553	1	0
NFASC	23114	broad.mit.edu	37	1	204985573	204985573	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr1:204985573G>A	ENST00000367172.4	+	32	4278	c.3950G>A	c.(3949-3951)gGc>gAc	p.G1317D	NFASC_ENST00000339876.6_Missense_Mutation_p.G1210D|NFASC_ENST00000367169.4_Missense_Mutation_p.G1041D|NFASC_ENST00000539706.1_Missense_Mutation_p.G1144D|NFASC_ENST00000360049.4_Missense_Mutation_p.G1139D|NFASC_ENST00000401399.1_Missense_Mutation_p.G1210D|NFASC_ENST00000338586.6_Missense_Mutation_p.G1194D|NFASC_ENST00000404076.1_Missense_Mutation_p.G1127D|NFASC_ENST00000404907.1_Missense_Mutation_p.G1144D|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Missense_Mutation_p.G1302D|NFASC_ENST00000338515.6_Missense_Mutation_p.G1227D|NFASC_ENST00000513543.1_Missense_Mutation_p.G1139D|NFASC_ENST00000367170.4_Missense_Mutation_p.G1238D			O94856	NFASC_HUMAN	neurofascin	1317					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.G1139D(1)|p.G1210D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCTTCATCGGCCAGTACACG	0.562000													4	128					0	0	0.009096	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033605	26033605	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr6:26033605C>T	ENST00000259791.2	-	1	191	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	64					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L64L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGCCAGCTCCAGGATCTCGG	0.637000													11	56					0	0	0.080935	0	0
CYB5R2	51700	broad.mit.edu	37	11	7690490	7690490	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr11:7690490C>T	ENST00000533558.1	-	5	890	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	CYB5R2_ENST00000524790.1_Missense_Mutation_p.G112R|CYB5R2_ENST00000299497.9_Missense_Mutation_p.G112R|CYB5R2_ENST00000299498.6_Missense_Mutation_p.G112R|CYB5R2_ENST00000528585.1_5'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	112	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	p.G112R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGGTCTCCCCGATTTTCATG	0.483000													15	115					0	0	0.024245	0	0
TBXA2R	0	broad.mit.edu	37	19	3600542	3600542	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr19:3600542C>T	ENST00000375190.4	-	2	484	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	TBXA2R_ENST00000589966.1_Missense_Mutation_p.A31T|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A31T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	31					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	p.A31T(1)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AAGGAGGCGGCGAACCAGGGC	0.697000													9	23					0	0	0.058154	0	0
ZMYM3	9203	broad.mit.edu	37	X	70461110	70461110	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chrX:70461110G>C	ENST00000373998.1	-	24	4548	c.3851C>G	c.(3850-3852)cCt>cGt	p.P1284R	ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206R|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296R|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298R|ZMYM3_ENST00000353904.2_Missense_Mutation_p.P1296R	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1296					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.P1296R(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAACTTGACAGGGCAGCGGAG	0.512000													5	23					0	0	0.021553	0	0
FUT10	84750	broad.mit.edu	37	8	33246843	33246843	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr8:33246843C>T	ENST00000327671.5	-	4	1481	c.850G>A	c.(850-852)Gtt>Att	p.V284I	FUT10_ENST00000335589.3_Missense_Mutation_p.V222I|FUT10_ENST00000524021.1_Missense_Mutation_p.V256I|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.V256I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	284					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.V284I(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCATCACAAACTGCATTCTCA	0.468000													8	46					0	0	0.038147	0	0
SLX4	84464	broad.mit.edu	37	16	3640329	3640329	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr16:3640329G>A	ENST00000294008.3	-	12	3950	c.3310C>T	c.(3310-3312)Cgg>Tgg	p.R1104W		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1104	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.R1104R(1)|p.R1104W(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGCACGGACCGACGCTCTTTG	0.532000								Direct reversal of damage					5	137					0	0	0.021553	0	0
CCDC54	84692	broad.mit.edu	37	3	107096617	107096617	+	Silent	SNP	C	C	T	rs144553244		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr3:107096617C>T	ENST00000261058.1	+	1	430	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	61								p.D61D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATAGTTATGACGGAAAAATGA	0.363000													8	89					0	0	0.038147	0	0
ARID1B	57492	broad.mit.edu	37	6	157522425	157522425	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr6:157522425G>A	ENST00000346085.5	+	18	4698	c.4697G>A	c.(4696-4698)cGc>cAc	p.R1566H	ARID1B_ENST00000275248.4_Missense_Mutation_p.R1548H|ARID1B_ENST00000367148.1_Missense_Mutation_p.R1606H|ARID1B_ENST00000350026.5_Missense_Mutation_p.R1553H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1553	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.R1548H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGGAGAACCGCATGTCTCCA	0.622000													4	168					0	0	0.009096	0	0
KCNB1	3745	broad.mit.edu	37	20	47991220	47991220	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr20:47991220G>A	ENST00000371741.4	-	2	1043	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	293					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R293C(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACCACGCGGCGGACATTCTGG	0.542000													3	89					0	0	0.009096	0	0
ZNF622	90441	broad.mit.edu	37	5	16465318	16465318	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr5:16465318T>A	ENST00000308683.2	-	1	583	c.457A>T	c.(457-459)Aag>Tag	p.K153*		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	153						cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.K153*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGGCCTCCTTTGCAGGCGCT	0.642000													13	113					0	0	0.024245	0	0
ZNF576	79177	broad.mit.edu	37	19	44103050	44103050	+	Silent	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr19:44103050T>C	ENST00000336564.4	+	3	307	c.153T>C	c.(151-153)cgT>cgC	p.R51R	SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Silent_p.R51R|ZNF576_ENST00000528387.1_Silent_p.R51R|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000391965.2_Silent_p.R51R|ZNF576_ENST00000533118.1_Silent_p.R51R|ZNF576_ENST00000529930.1_Silent_p.R51R	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R51R(1)		endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				TCCAGGAGCGTCACATGAAGC	0.647000													4	143					0	0	0.021553	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													3	112					0	0	0.004672	0	0
RDM1	201299	broad.mit.edu	37	17	34249537	34249537	+	Nonstop_Mutation	SNP	T	T	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr17:34249537T>G	ENST00000430160.2	-	4	1112	c.642A>C	c.(640-642)taA>taC	p.*214Y	RDM1_ENST00000591402.1_Intron|RDM1_ENST00000293273.6_Intron|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000419453.2_Intron|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000394528.3_Nonstop_Mutation_p.*237Y|RDM1_ENST00000394529.3_Intron			Q8NG50	RDM1_HUMAN	RAD52 motif 1	0					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	p.*237Y(1)		breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTTTATTTGCTTACTGAAACT	0.318000								Other identified genes with known or suspected DNA repair function					15	94					0	0	0.020292	0	0
TSPAN33	340348	broad.mit.edu	37	7	128807390	128807390	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr7:128807390G>A	ENST00000289407.4	+	7	848	c.739G>A	c.(739-741)Gcc>Acc	p.A247T		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	247						integral to membrane		p.A247T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TCTAGGCCTGGCCATCCCCCA	0.507000													4	137					0	0	0.014758	0	0
PCDHGA1	0	broad.mit.edu	37	5	140711178	140711178	+	Silent	SNP	C	C	T	rs148638556		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr5:140711178C>T	ENST00000517417.1	+	1	927	c.927C>T	c.(925-927)ttC>ttT	p.F309F	PCDHGA1_ENST00000378105.3_Silent_p.F309F	NM_018912.2	NP_061735.1												p.F309F(3)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTAGATTTCGAAGAATACA	0.373000													6	44					0	0	0.021553	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123171436	123171436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr9:123171436C>A	ENST00000349780.4	-	30	4752	c.4573G>T	c.(4573-4575)Gag>Tag	p.E1525*	CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E1493*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E1525*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E1484*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1525					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.E1525*(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGCGGACCTCCTGGATCAGC	0.612000													5	70					0.014758	0.0156435	0.014758	1	0
GPR128	84873	broad.mit.edu	37	3	100373726	100373726	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr3:100373726T>C	ENST00000273352.3	+	12	1695	c.1427T>C	c.(1426-1428)aTa>aCa	p.I476T	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.I181T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	476					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I476T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATCTGTGCATATCAATGTTG	0.323000													3	57					0	0	0.004672	0	0
OR4D5	219875	broad.mit.edu	37	11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493000													36	140					0	0	0.069456	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													5	172					0	0	0.029380	0	0
ASIC2	40	broad.mit.edu	37	17	32483118	32483118	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr17:32483118T>G	ENST00000359872.6	-	1	1195	c.434A>C	c.(433-435)cAc>cCc	p.H145P		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	145					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.H145P(1)								Amiloride(DB00594)	GGGTTTGTAGTGCTTGAAGTT	0.592000													16	132					0	0	0.033300	0	0
DVL1	1855	broad.mit.edu	37	1	1271546	1271546	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr1:1271546G>A	ENST00000378888.5	-	15	2348	c.2064C>T	c.(2062-2064)tgC>tgT	p.C688C	DVL1_ENST00000378891.5_Silent_p.C663C			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	688					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	p.C663C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGAAGAACTCGCAGGGGTTCC	0.692000													3	11					0	0	0.014758	0	0
SRPK1	6732	broad.mit.edu	37	6	35810383	35810383	+	Splice_Site	SNP	T	T	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr6:35810383T>A	ENST00000373825.2	-	14	1906		c.e14-2		SRPK1_ENST00000373822.1_Splice_Site|SRPK1_ENST00000423325.2_Splice_Site			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1						cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.?(2)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCAAAGGCCTAAAAAAAAAA	0.418000													3	45					0	0	0.009096	0	0
NIPBL	25836	broad.mit.edu	37	5	37038824	37038824	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr5:37038824T>A	ENST00000282516.8	+	34	6591	c.6092T>A	c.(6091-6093)cTt>cAt	p.L2031H	NIPBL_ENST00000448238.2_Missense_Mutation_p.L2031H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2031					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.L2031H(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAACCATACCTTACCACTAAA	0.348000													5	51					0	0	0.014758	0	0
OR5T2	219464	broad.mit.edu	37	11	55999741	55999741	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr11:55999741C>T	ENST00000313264.4	-	1	996	c.921G>A	c.(919-921)tcG>tcA	p.S307S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S307S(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCATGGTCCGAAGCATAGC	0.408000													6	143					0	0	0.029380	0	0
OR10K2	391107	broad.mit.edu	37	1	158390384	158390384	+	Silent	SNP	G	G	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr1:158390384G>T	ENST00000314902.2	-	1	272	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91T(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGAAAGAAATGGTCTTCTTCT	0.478000													17	262					9.16793e-09	1.01229e-08	0.033300	1	0
FAM83H	286077	broad.mit.edu	37	8	144811144	144811144	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr8:144811144T>C	ENST00000388913.3	-	4	855	c.730A>G	c.(730-732)Agc>Ggc	p.S244G		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	244					biomineral tissue development			p.S244G(1)		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)			CACCTGTAGCTCCCACTCATC	0.662000													8	108					0	0	0.047766	0	0
ATG10	83734	broad.mit.edu	37	5	81354375	81354375	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr5:81354375C>G	ENST00000282185.3	+	3	464	c.170C>G	c.(169-171)tCa>tGa	p.S57*	ATG10_ENST00000458350.3_Nonsense_Mutation_p.S57*|ATG10_ENST00000513443.1_Nonsense_Mutation_p.S57*|ATG10_ENST00000355178.4_Nonsense_Mutation_p.S57*|ATG10_ENST00000513634.1_Nonsense_Mutation_p.S57*	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	57					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	p.S57*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		TCTGTGATGTCACATCTAGGA	0.373000													28	227					0	0	0.037714	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													3	61					0	0	0.004672	0	0
P4HTM	54681	broad.mit.edu	37	3	49028271	49028271	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr3:49028271G>A	ENST00000343546.4	+	2	728	c.360G>A	c.(358-360)ggG>ggA	p.G120G	P4HTM_ENST00000468374.1_3'UTR|P4HTM_ENST00000383729.4_Silent_p.G120G	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	120						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G120G(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTTAGGTGGGGCACGAGCGTA	0.662000													3	26					0	0	0.004672	0	0
ABCC11	85320	broad.mit.edu	37	16	48258247	48258247	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr16:48258247C>G	ENST00000394747.1	-	4	838	c.489G>C	c.(487-489)ttG>ttC	p.L163F	ABCC11_ENST00000537808.1_Missense_Mutation_p.L163F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L163F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L163F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L163F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	163	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L163F(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATCGAAAATCAACCTTGTTC	0.507000													8	25					0	0	0.038147	0	0
INTS10	55174	broad.mit.edu	37	8	19690802	19690802	+	Silent	SNP	G	G	A			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr8:19690802G>A	ENST00000397977.3	+	12	1898	c.1500G>A	c.(1498-1500)gcG>gcA	p.A500A		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	500					snRNA processing	integrator complex	protein binding	p.A500A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TCCAGCTGGCGACGTGCCACT	0.607000													12	44					0	0	0.105934	0	0
GOLGA6L7P	0	broad.mit.edu	37	15	29092257	29092257	+	RNA	SNP	C	C	T	rs75388271	by1000genomes	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr15:29092257C>T	ENST00000569815.1	-	0	258					NR_047567.1																						TCAGGGTTAGCGCCATGATTT	0.547000													4	29					0	0	0.014758	0	0
MST1L	0	broad.mit.edu	37	1	17083671	17083671	+	RNA	SNP	C	C	G	rs1057420	by1000genomes	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr1:17083671C>G	ENST00000455405.2	-	0	917																											aagtcttGTCCTTGACTGTAC	0.403000													6	69					0	0	0.029380	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	94					0	0	0.004672	0	0
LELP1	149018	broad.mit.edu	37	1	153177307	153177307	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr1:153177307C>T	ENST00000368747.1	+	2	234	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	42	Cys/Pro-rich.							p.R42C(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTGCAACGCTGTTTCGA	0.552000													13	178					0	0	0.105934	0	0
TXNIP	10628	broad.mit.edu	37	1	145439910	145439910	+	Silent	SNP	T	T	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr1:145439910T>C	ENST00000369317.4	+	3	790	c.456T>C	c.(454-456)aaT>aaC	p.N152N	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	152					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.N152N(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGATGTCAATACCCCTGATT	0.433000													32	128					0	0	0.045705	0	0
MED12	9968	broad.mit.edu	37	X	70356862	70356862	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chrX:70356862A>C	ENST00000333646.6	+	38	5733	c.5534A>C	c.(5533-5535)aAc>aCc	p.N1845T	MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.N1845T|MED12_ENST00000374080.3_Missense_Mutation_p.N1845T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1845	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TACACCCAGAACCAGCCACTA	0.567000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						3	5					0	0	0.009096	0	0
CLTCL1	8218	broad.mit.edu	37	22	19241488	19241488	+	Silent	SNP	C	C	T			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr22:19241488C>T	ENST00000263200.10	-	3	585	c.513G>A	c.(511-513)tcG>tcA	p.S171S	CLTCL1_ENST00000427926.1_Silent_p.S171S|CLTCL1_ENST00000353891.5_Silent_p.S171S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	171	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTACCTGAGCCGAGATGCCTA	0.478000			T	?	ALCL								10	11					0	0	0.069234	0	0
RP11-453E17.1	0	broad.mit.edu	37	4	68632418	68632419	+	RNA	INS	-	-	ACACACACAT	rs59536241	by1000genomes	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr4:68632418_68632419insACACACACAT	ENST00000500538.2	+	0	1905				RP11-453E17.1_ENST00000502758.1_RNA																							cacacacacacaTATATATAct	0.431													12	5	---	---	---	---					
FAM66D	0	broad.mit.edu	37	8	11990647	11990648	+	RNA	INS	-	-	GTTTGTT			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:11990647_11990648insGTTTGTT	ENST00000434078.2	+	0	608					NR_027425.1																						ATTCTTGGCAAGTTTGTTGCCT	0.485													7	61	---	---	---	---					
LINC00475	0	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs58003635		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:94904432delG	ENST00000416438.2	+	0	184					NR_027341.1																						GGCCTTCTTTGGGGGGGGGGT	0.612													4	3	---	---	---	---					
HERC2P9	0	broad.mit.edu	37	15	28913367	28913367	+	RNA	DEL	T	T	-			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr15:28913367delT	ENST00000528584.1	+	0	1224					NR_036443.1																						TGAGTTCTCCTTTTTTTTTTT	0.308													2	4	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													4	3	---	---	---	---					
C17orf70	80233	broad.mit.edu	37	17	79518970	79518970	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:79518970delG	ENST00000327787.8	-	2	320	c.274delC	c.(274-276)acfs	p.H92fs	C17orf70_ENST00000537152.1_5'UTR			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	92					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGCCCGGGTGGTCCAGCGAC	0.736													2	4	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						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)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			9	130	---	---	---	---					
RP11-83N9.5	0	broad.mit.edu	37	9	139000903	139000903	+	RNA	DEL	C	C	-			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr9:139000903delC	ENST00000566567.1	-	0	24																											cctctgccctccccgccctgc	0.682													2	4	---	---	---	---					
RP11-33N16.3	0	broad.mit.edu	37	14	90203668	90203668	+	RNA	DEL	C	C	-	rs67505159		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr14:90203668delC	ENST00000555070.1	-	0	170																											CTCTTTCTTTCtttttttttt	0.368													4	4	---	---	---	---					
C17orf70	80233	broad.mit.edu	37	17	79518970	79518970	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr17:79518970delG	ENST00000327787.8	-	2	320	c.274delC	c.(274-276)acfs	p.H92fs	C17orf70_ENST00000537152.1_5'UTR			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	92					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGCCCGGGTGGTCCAGCGAC	0.736													2	4	---	---	---	---					
IGLC3	0	broad.mit.edu	37	22	23248852	23248852	+	RNA	DEL	A	A	-	rs71797740		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr22:23248852delA	ENST00000390325.2	+	0	341																											CTCACCCCCCACCACGGGAGA	0.572													7	20	---	---	---	---