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
ORAI3	93129	broad.mit.edu	37	16	30960744	30960744	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:30960744C>G	ENST00000318663.4	+	1	358	c.134C>G	c.(133-135)tCg>tGg	p.S45W	ORAI3_ENST00000562699.1_Missense_Mutation_p.S45W|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Missense_Mutation_p.S45W	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	45						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						AGTCAGCACTCGCTGCGGGCG	0.697000													5	11					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26955427	26955427	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:26955427A>C	ENST00000528896.2	-	24	4524	c.4450T>G	c.(4450-4452)Tct>Gct	p.S1484A	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S1341A|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S1341A	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1484						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCCTCAGTAGAAAGATTACGT	0.468000													45	84					0	0	1	0	0
BAG4	9530	broad.mit.edu	37	8	38067700	38067700	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr8:38067700C>T	ENST00000287322.4	+	5	1334	c.1063C>T	c.(1063-1065)Cat>Tat	p.H355Y	BAG4_ENST00000432471.2_Missense_Mutation_p.H319Y	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	355					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				CACCAGTGACCATCCCAACAA	0.433000													62	53					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52782091	52782091	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr14:52782091C>T	ENST00000245457.5	+	1	979	c.825C>T	c.(823-825)gtC>gtT	p.V275V	PTGER2_ENST00000557436.1_Silent_p.V20V	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	275						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CCTTCGCCGTCTGCTCCTTGC	0.637000													23	61					0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12915013	12915013	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:12915013C>T	ENST00000338034.4	-	7	885	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ELAC2_ENST00000395962.2_Missense_Mutation_p.E197K|ELAC2_ENST00000426905.3_Intron	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	216					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TCATTCGACTCGGAGTCTGAA	0.483000													15	103					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283461	152283461	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:152283461G>T	ENST00000368799.1	-	3	3936	c.3901C>A	c.(3901-3903)Cag>Aag	p.Q1301K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1301	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tctcttgactgctcccgagaa	0.542000									Ichthyosis				49	348					4.01344e-20	4.297e-20	1	1	0
RPS6KA4	8986	broad.mit.edu	37	11	64129454	64129454	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:64129454C>T	ENST00000528057.1	+	8	974	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R296W|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R296W	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	296	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACAAGAAGTCCGGAACCATCC	0.647000													29	47					0	0	1	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806787	27806787	+	Silent	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:27806787C>G	ENST00000606613.1	+	1	409	c.348C>G	c.(346-348)acC>acG	p.T116T	HIST1H2BN_ENST00000396980.3_Silent_p.T116T			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	116					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						CGGAGGGCACCAAGGCCGTCA	0.637000													31	74					0	0	1	0	0
RHBDL3	162494	broad.mit.edu	37	17	30648107	30648107	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:30648107G>A	ENST00000269051.4	+	9	1088	c.1074G>A	c.(1072-1074)ctG>ctA	p.L358L	RHBDL3_ENST00000538145.1_Silent_p.L350L|RHBDL3_ENST00000536287.1_Silent_p.L260L	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	358					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TGGTGGTCCTGAGGAACTACG	0.607000													29	60					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116747727	116747727	+	Silent	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:116747727C>A	ENST00000375300.1	-	7	902	c.897G>T	c.(895-897)gtG>gtT	p.V299V	SIK3_ENST00000292055.4_Silent_p.V241V|SIK3_ENST00000542607.1_Silent_p.V241V|SIK3_ENST00000446921.2_Silent_p.V299V|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_Silent_p.V140V			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	241	UBA.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGGGATCTAACACCAACATAT	0.542000													22	13					1.22574e-08	1.27762e-08	1	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													5	67					0.00198382	0.0020145	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14784471	14784471	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr18:14784471G>A	ENST00000358984.4	+	14	1789	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E537K|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	537										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GCCTGCCGTTGAAATGCAAAA	0.303000													17	42					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322004	55322004	+	Silent	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:55322004T>C	ENST00000314644.2	+	1	222	c.222T>C	c.(220-222)aaT>aaC	p.N74N		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGAATCCAAATGTTCAGGAAA	0.408000										HNSCC(20;0.049)			57	101					0	0	1	0	0
IGLV5-45	28781	broad.mit.edu	37	22	22730872	22730872	+	RNA	SNP	T	T	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr22:22730872T>G	ENST00000390296.2	+	0	395																											CAGCAGCGCTTCTCACAGTGA	0.463000													5	166					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204053284	204053284	+	Silent	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:204053284C>G	ENST00000449802.1	+	44	7041	c.6708C>G	c.(6706-6708)ctC>ctG	p.L2236L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2236	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAGAGGCACTCAACGTTTTCT	0.338000													4	125					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683106	218683106	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:218683106T>A	ENST00000171887.4	-	24	4089	c.3637A>T	c.(3637-3639)Agc>Tgc	p.S1213C	TNS1_ENST00000430930.1_Missense_Mutation_p.S1192C|TNS1_ENST00000419504.1_Missense_Mutation_p.S1200C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1213						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGTGATGGCTCAAACTGGGA	0.657000													27	38					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54093970	54093970	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:54093970G>A	ENST00000404125.1	-	45	5366	c.5311C>T	c.(5311-5313)Ctt>Ttt	p.L1771F	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Missense_Mutation_p.L915F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1771					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGACTAGAAAGAACACATGCA	0.448000													9	45					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99056236	99056236	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:99056236C>T	ENST00000357310.1	+	6	1290	c.713C>T	c.(712-714)tCt>tTt	p.S238F	APAF1_ENST00000550527.1_Missense_Mutation_p.S227F|APAF1_ENST00000549007.1_Missense_Mutation_p.S238F|APAF1_ENST00000551964.1_Missense_Mutation_p.S238F|APAF1_ENST00000547045.1_Missense_Mutation_p.S238F|APAF1_ENST00000359972.2_Missense_Mutation_p.S227F|APAF1_ENST00000339433.3_Missense_Mutation_p.S238F|APAF1_ENST00000333991.1_Missense_Mutation_p.S238F|APAF1_ENST00000552268.1_Missense_Mutation_p.S238F	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	238	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	taaattaGGTCTCTCTTGATC	0.328000													21	30					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751887	26751887	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr3:26751887C>G	ENST00000396641.2	+	2	1316	c.724C>G	c.(724-726)Ctg>Gtg	p.L242V	LRRC3B_ENST00000456208.2_Missense_Mutation_p.L242V|LRRC3B_ENST00000417744.1_Missense_Mutation_p.L242V	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	242						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CTTGAAATCCCTGCCAAGCAG	0.438000													17	11					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901206	123901206	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:123901206G>A	ENST00000431524.1	+	1	910	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		GAGGAACAAGGAGGTGAAGAA	0.478000													41	41					0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2226127	2226127	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:2226127C>T	ENST00000326181.6	+	19	1956	c.1824C>T	c.(1822-1824)atC>atT	p.I608I		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	608					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TGGCGGTCATCTCGACGCCAG	0.667000													15	20					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20819551	20819551	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr22:20819551C>T	ENST00000328879.4	-	4	862	c.706G>A	c.(706-708)Gag>Aag	p.E236K	KLHL22_ENST00000440659.2_Missense_Mutation_p.E93K	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	236					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTTGGGGGCTCGTGCAGCGAG	0.602000													9	49					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27687322	27687322	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:27687322T>C	ENST00000374040.3	-	14	2164	c.1904A>G	c.(1903-1905)tAt>tGt	p.Y635C	MAP3K6_ENST00000493901.1_Missense_Mutation_p.Y643C|MAP3K6_ENST00000357582.2_Missense_Mutation_p.Y643C			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	643					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGTACTCATAATCAAACTG	0.687000													16	24					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109801519	109801519	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:109801519C>G	ENST00000271332.3	+	2	3837	c.3776C>G	c.(3775-3777)tCc>tGc	p.S1259C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1259	EGF-like 1; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCGCCTCCTCCTCCGTGCTC	0.687000													14	18					0	0	1	0	0
RNF115	27246	broad.mit.edu	37	1	145682086	145682086	+	Silent	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:145682086T>C	ENST00000369291.4	+	5	696	c.492T>C	c.(490-492)ccT>ccC	p.P164P		NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN	ring finger protein 115	164					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CTCCACACCCTTTTTCCTGGT	0.363000													5	228					0	0	1	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107178825	107178825	+	RNA	SNP	G	G	A	rs61740711		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr14:107178825G>A	ENST00000390634.2	-	0	427																											TGTGGTATCCGTGCACAATAA	0.537000													32	227					0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55472843	55472843	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:55472843G>T	ENST00000371265.4	+	3	700	c.446G>T	c.(445-447)gGt>gTt	p.G149V		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	149						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GGAGGAGAAGGTGGCCCTGGC	0.607000													29	54					5.77227e-19	6.14669e-19	1	1	0
SP9	100131390	broad.mit.edu	37	2	175201969	175201969	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:175201969C>G	ENST00000394967.2	+	2	1303	c.1156C>G	c.(1156-1158)Cac>Gac	p.H386D	AC018470.1_ENST00000595354.1_Silent_p.V61V	NM_001145250.1	NP_001138722.1	P0CG40	SP9_HUMAN	Sp9 transcription factor	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)	1						TCTGCGGACTCACACGGGCGA	0.662000													3	9					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564345	46564345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:46564345G>A	ENST00000458649.2	-	7	1640	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R408*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R408*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R408*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R318*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R318*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R408*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	408					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCTATTTCTCGGTGATACCTA	0.612000													43	29					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	52					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32162040	32162040	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr20:32162040A>G	ENST00000346541.3	+	2	571	c.34A>G	c.(34-36)Ata>Gta	p.I12V	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.I12V|CBFA2T2_ENST00000344201.3_Intron|CBFA2T2_ENST00000342704.5_Intron|CBFA2T2_ENST00000397800.1_Intron|CBFA2T2_ENST00000397798.2_5'UTR	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	12						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CTTGAAAGAAATACAGGTCCT	0.368000													30	61					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33769076	33769076	+	Silent	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:33769076G>C	ENST00000285013.6	-	5	1703	c.1428C>G	c.(1426-1428)ctC>ctG	p.L476L	SLFN13_ENST00000533791.1_Silent_p.L476L|SLFN13_ENST00000542635.1_Silent_p.L476L|SLFN13_ENST00000526861.1_Silent_p.L476L|SLFN13_ENST00000360502.2_Silent_p.L158L|SLFN13_ENST00000534689.1_Silent_p.L158L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	476						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCTGCTCCCTGAGAATGGTGT	0.557000													18	87					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54265389	54265389	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chrX:54265389G>A	ENST00000354646.2	-	18	4233	c.3795C>T	c.(3793-3795)agC>agT	p.S1265S	WNK3_ENST00000375169.3_Intron|WNK3_ENST00000375159.2_Silent_p.S1265S	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1247					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AGGATTTCTTGCTAATAGGAT	0.453000													23	8					0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51295006	51295006	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:51295006G>A	ENST00000270593.1	+	4	397	c.397G>A	c.(397-399)Gag>Aag	p.E133K	ACPT_ENST00000270594.3_Intron	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	133						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGGGAGCCCCGAGGCCCGCTG	0.692000													18	28					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176637762	176637762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr5:176637762C>T	ENST00000439151.2	+	5	2407	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.R685*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R519*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R519*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	788					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCCCAAGTTCCGAAGTATAAA	0.413000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			27	10					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19188991	19188991	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr22:19188991C>T	ENST00000263200.10	-	23	3686	c.3614G>A	c.(3613-3615)tGt>tAt	p.C1205Y	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.C1205Y|CLTCL1_ENST00000427926.1_Missense_Mutation_p.C1205Y	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1205	Heavy chain arm.|Proximal segment.				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)					CTCCTCGTAACAGCGGTCTCC	0.493000			T	?	ALCL								24	59					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366710	248366710	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:248366710T>A	ENST00000456743.1	+	1	379	c.341T>A	c.(340-342)cTt>cAt	p.L114H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAGTGCTTTCTTTTGGCTGTT	0.448000													5	411					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101823395	101823395	+	RNA	SNP	G	G	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chrX:101823395G>T	ENST00000360035.2	+	0	3148					NR_002216.1															endometrium(2)|lung(8)	10						CAGCACGAAGGAGACCCAGAG	0.527000													6	1					0.00116845	0.00119266	1	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72057258	72057258	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:72057258T>C	ENST00000378743.3	-	1	491	c.133A>G	c.(133-135)Agc>Ggc	p.S45G	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S45G|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S45G	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCCGCCGCTGCTGCTGCTG	0.637000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	150					0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28056881	28056881	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:28056881G>C	ENST00000377325.1	+	4	1647	c.1091G>C	c.(1090-1092)aGa>aCa	p.R364T		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	364					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGCATCAGAGAATCCACACT	0.433000													29	48					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274180	74274180	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:74274180A>T	ENST00000409262.3	+	1	731	c.731A>T	c.(730-732)cAg>cTg	p.Q244L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	244							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCACCCCCCAGGCTTCTTGC	0.587000													58	36					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62365526	62365526	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:62365526G>C	ENST00000278823.2	-	6	849	c.460C>G	c.(460-462)Caa>Gaa	p.Q154E	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	154	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						ATCTCAGCTTGGTATTTGCAA	0.478000													110	193					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67802354	67802354	+	Silent	SNP	G	G	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr13:67802354G>T	ENST00000544246.1	-	2	910	c.219C>A	c.(217-219)gcC>gcA	p.A73A	PCDH9_ENST00000328454.5_Silent_p.A73A|PCDH9_ENST00000377861.3_Silent_p.A73A|PCDH9_ENST00000456367.1_Silent_p.A73A|PCDH9_ENST00000377865.2_Silent_p.A73A	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	73	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCACCAAAGGGGCATCCCCAG	0.483000													23	36					2.27731e-05	2.36121e-05	1	1	0
C7orf60	154743	broad.mit.edu	37	7	112579780	112579780	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:112579780T>C	ENST00000297145.4	-	1	191	c.26A>G	c.(25-27)aAt>aGt	p.N9S		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	9										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						ACGAGCAGTATTTCGGCCGCC	0.721000													19	77					0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67237418	67237418	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:67237418T>C	ENST00000393997.2	+	19	2098	c.2041T>C	c.(2041-2043)Ttc>Ctc	p.F681L	ELMO3_ENST00000477898.1_Missense_Mutation_p.F515L|ELMO3_ENST00000360833.1_Missense_Mutation_p.F664L	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	628					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TGAGTTGGCCTTCTCAATCAG	0.647000													18	44					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22283839	22283839	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:22283839G>A	ENST00000324559.8	+	16	2112	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	599						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGAGAAGTGAAGAGGTAAG	0.353000													20	29					0	0	1	0	0
IGLV3-12	28802	broad.mit.edu	37	22	23115056	23115056	+	RNA	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr22:23115056G>A	ENST00000390313.2	+	0	337																											TCAGGTGTGGGACAGTAGTAG	0.592000													16	29					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110442743	110442743	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:110442743G>A	ENST00000265175.5	+	14	2524	c.2469G>A	c.(2467-2469)ctG>ctA	p.L823L	SEC24B_ENST00000399100.2_Silent_p.L788L|SEC24B_ENST00000504968.2_Silent_p.L853L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	823					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGGACTTCTGCAATCCAGAG	0.373000													19	31					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475583	120475583	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:120475583C>G	ENST00000355622.6	+	3	1278	c.1177C>G	c.(1177-1179)Caa>Gaa	p.Q393E	TLR4_ENST00000394487.4_Missense_Mutation_p.Q353E|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	393					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTGCTGTTCTCAAAGTGATTT	0.388000													34	84					0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58301696	58301696	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:58301696C>T	ENST00000598183.1	+	2	267	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Missense_Mutation_p.L31F			Q9NXT0	ZN586_HUMAN	zinc finger protein 586	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAATGGAGTCTTCTTAATGA	0.468000													11	246					0	0	1	0	0
LURAP1L	286343	broad.mit.edu	37	9	12775944	12775944	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:12775944C>A	ENST00000319264.3	+	1	925	c.230C>A	c.(229-231)cCa>cAa	p.P77Q	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	80	Ser-rich.																TCGTCCTCCCCAACCTCTGGC	0.657000													5	3					0.014758	0.0149094	1	1	0
ZNF646	9726	broad.mit.edu	37	16	31092273	31092273	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:31092273C>T	ENST00000394979.2	+	1	5051	c.4628C>T	c.(4627-4629)tCa>tTa	p.S1543L	ZNF646_ENST00000300850.5_Missense_Mutation_p.S1543L			O15015	ZN646_HUMAN	zinc finger protein 646	1543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TACTGCCAGTCAGGCAGCCTC	0.542000													40	53					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11151981	11151981	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:11151981A>G	ENST00000413806.3	+	28	4079	c.4079A>G	c.(4078-4080)aAg>aGg	p.K1360R	SMARCA4_ENST00000358026.2_Splice_Site|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K1360R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K1360R|SMARCA4_ENST00000429416.3_Splice_Site|SMARCA4_ENST00000344626.4_Splice_Site|SMARCA4_ENST00000444061.3_Splice_Site|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K1360R|SMARCA4_ENST00000590574.1_Splice_Site	NM_001128845.1|NM_001128847.1	NP_001122317.1|NP_001122319.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1390	Poly-Glu.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTGACCCTGAAGGCCATCGAG	0.632000			"""F, N, Mis"""		NSCLC								29	72					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62212349	62212349	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr15:62212349T>A	ENST00000261517.5	-	57	7467	c.7394A>T	c.(7393-7395)gAg>gTg	p.E2465V	VPS13C_ENST00000395896.4_Missense_Mutation_p.E2465V|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2422V|VPS13C_ENST00000395898.3_Missense_Mutation_p.E2422V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2465					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTGGCATACTCCAGTTCCAA	0.423000													34	73					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127323763	127323763	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr3:127323763G>A	ENST00000265056.7	+	4	681	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	146	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	p.R146H(1)		ovary(3)|skin(2)|stomach(1)	6						GACGAGGAGCGCCCTGCCCGC	0.647000													26	14					0	0	1	0	0
RAB35	11021	broad.mit.edu	37	12	120535128	120535128	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:120535128A>G	ENST00000229340.5	-	6	715	c.527T>C	c.(526-528)cTg>cCg	p.L176P	RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000432953.2_5'UTR|RAB35_ENST00000534951.1_Silent_p.P134P	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	176					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CTGTTTTGCCAGGTTGTCTTT	0.547000													15	41					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724174	50724174	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:50724174C>T	ENST00000515869.1	-	6	2511	c.2391G>A	c.(2389-2391)gcG>gcA	p.A797A	PGBD3_ENST00000374127.3_Silent_p.A329A|PGBD3_ENST00000508005.2_Silent_p.A329A|ERCC6-PGBD3_ENST00000447839.2_Silent_p.A797A|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Silent_p.A797A	NM_001277059.1	NP_001263988.1																					GGACAAGTGACGCACCGACAC	0.433000													36	65					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612098	20612098	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr14:20612098A>C	ENST00000333629.1	+	1	204	c.204A>C	c.(202-204)ttA>ttC	p.L68F		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ACTTGGCCTTACTGGATGCAT	0.478000													5	151					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177071286	177071286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:177071286C>T	ENST00000393643.2	+	15	2392	c.2140C>T	c.(2140-2142)Caa>Taa	p.Q714*	WDR17_ENST00000508596.1_Nonsense_Mutation_p.Q714*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.Q721*|WDR17_ENST00000280190.4_Nonsense_Mutation_p.Q738*	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	738										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGCTAATTCTCAAGTGAAAAA	0.338000													30	66					0	0	1	0	0
MT-CO3	4514	broad.mit.edu	37	MT	9770	9770	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chrM:9770T>C	ENST00000362079.2	+	1	564	c.564T>C	c.(562-564)atT>atC	p.188_188insI						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CCCTTCACCATTTCCGACGGC	0.448000													14	6					0	0	1	0	0
DEFB110	245913	broad.mit.edu	37	6	49986803	49986803	+	Silent	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:49986803A>G	ENST00000371148.2	-	2	136	c.91T>C	c.(91-93)Ttg>Ctg	p.L31L	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	31					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TCTCTCCTCAAGTCCAAGCTA	0.373000													27	65					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821393	151821393	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chrX:151821393G>A	ENST00000370306.2	+	9	1568	c.1548G>A	c.(1546-1548)ggG>ggA	p.G516G		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	516						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCCAGTGGGAAGCCCATGC	0.552000													27	11					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581235	40581235	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:40581235G>C	ENST00000450241.2	-	6	1323	c.1012C>G	c.(1012-1014)Ctt>Gtt	p.L338V	ZNF780A_ENST00000340963.5_Missense_Mutation_p.L372V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.L372V|ZNF780A_ENST00000455521.1_Missense_Mutation_p.L373V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.L373V			O75290	Z780A_HUMAN	zinc finger protein 780A	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGTTGAGAAGACTAAAGGCC	0.423000													66	94					0	0	1	0	0
MKRN1	23608	broad.mit.edu	37	7	140154946	140154946	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:140154946G>A	ENST00000255977.2	-	7	1409	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	MKRN1_ENST00000437223.2_Silent_p.G129G|MKRN1_ENST00000474576.1_Silent_p.G331G	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	395				GR -> AG (in Ref. 1; AAF17487).			ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CCTCTCTACGGCCATCAGGGT	0.473000													63	60					0	0	1	0	0
YIPF4	84272	broad.mit.edu	37	2	32517253	32517253	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:32517253T>A	ENST00000238831.3	+	3	487	c.241T>A	c.(241-243)Ttg>Atg	p.L81M		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	81						endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					taGGGAAGAATTGGACATTGA	0.294000													24	33					0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18297457	18297457	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr20:18297457C>T	ENST00000377671.3	+	7	2518	c.1959C>T	c.(1957-1959)ctC>ctT	p.L653L	ZNF133_ENST00000401790.1_Silent_p.L654L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000535822.1_Silent_p.L559L|ZNF133_ENST00000396026.3_Silent_p.L657L|ZNF133_ENST00000316358.4_Silent_p.L654L|ZNF133_ENST00000538547.1_Silent_p.L559L|ZNF133_ENST00000402618.2_Silent_p.L591L	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	654						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TATACTCTCTCTGAAGGCAAA	0.493000													4	45					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:90162579C>T	ENST00000567960.1	+	0	1315				TUBB8P7_ENST00000564451.1_RNA																							AGGAGTATGCCGAGGAGGAGG	0.512000													5	168					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29410790	29410790	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr18:29410790C>T	ENST00000283351.4	-	29	4571	c.4236G>A	c.(4234-4236)tcG>tcA	p.S1412S	TRAPPC8_ENST00000582539.1_Silent_p.S1358S	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1412					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TAACTTGGTCCGATAACTTGG	0.413000													34	59					0	0	1	0	0
EID1	23741	broad.mit.edu	37	15	49170407	49170407	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr15:49170407G>C	ENST00000530028.2	+	1	325	c.34G>C	c.(34-36)Gaa>Caa	p.E12Q	EID1_ENST00000560490.1_Missense_Mutation_p.E12Q|EID1_ENST00000558295.1_3'UTR|SHC4_ENST00000332408.4_Intron	NM_014335.2	NP_055150.1	Q9Y6B2	EID1_HUMAN	EP300 interacting inhibitor of differentiation 1	12					cell cycle|cell differentiation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyltransferase binding|histone acetyltransferase regulator activity|transcription corepressor activity			liver(1)|prostate(1)	2		all_lung(180;0.00455)		all cancers(107;2.73e-08)|GBM - Glioblastoma multiforme(94;9.58e-07)		CGAGCTGTATGAAGAGAGCAG	0.587000													6	135					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123782264	123782264	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:123782264T>C	ENST00000223642.1	-	12	1525	c.1496A>G	c.(1495-1497)tAt>tGt	p.Y499C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	499					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CAAGTAATTATAGTGAGTTAT	0.348000													20	27					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31658513	31658513	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr3:31658513G>A	ENST00000295770.2	+	7	1278	c.1069G>A	c.(1069-1071)Gta>Ata	p.V357I	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	357					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						CTTTTTGGGTGTATCACTAGC	0.393000													77	53					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96127854	96127854	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:96127854C>A	ENST00000453304.1	-	11	2175	c.1827G>T	c.(1825-1827)atG>atT	p.M609I		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	609	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGCAGTGATGCATAGTGAGGA	0.582000													33	71					6.84511e-11	7.1728e-11	1	1	0
LAMB4	22798	broad.mit.edu	37	7	107698328	107698328	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:107698328A>G	ENST00000388781.3	-	24	3411	c.3328T>C	c.(3328-3330)Tgc>Cgc	p.C1110R	LAMB4_ENST00000205386.4_Missense_Mutation_p.C1110R|LAMB4_ENST00000388780.3_Missense_Mutation_p.C1110R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1110	Laminin EGF-like 12.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACTCACTGCAACGTTTCCCG	0.443000													7	62					0	0	1	0	0
VPS26A	9559	broad.mit.edu	37	10	70928349	70928349	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:70928349C>G	ENST00000373382.1	+	9	1485	c.832C>G	c.(832-834)Ctt>Gtt	p.L278V	VPS26A_ENST00000546041.1_Missense_Mutation_p.L261V|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000541711.1_Missense_Mutation_p.L167V|VPS26A_ENST00000395098.1_Intron|VPS26A_ENST00000489794.1_Intron|VPS26A_ENST00000263559.6_Missense_Mutation_p.L278V			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	278					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GAATTTAGTGCTTGTTGATGA	0.398000													15	60					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823045	97823045	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:97823045G>C	ENST00000297293.5	+	11	3561	c.3268G>C	c.(3268-3270)Gag>Cag	p.E1090Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1090					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGTGACCCCTGAGACGTTCAC	0.602000													29	70					0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15783637	15783637	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:15783637G>C	ENST00000359621.4	+	2	122	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	CELA2A_ENST00000497590.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	33	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GGTTGGCGGTGAAGAAGCGAG	0.582000													21	45					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133235883	133235883	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:133235883C>G	ENST00000320574.5	-	26	3316	c.3273G>C	c.(3271-3273)gaG>gaC	p.E1091D	POLE_ENST00000535270.1_Missense_Mutation_p.E1064D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1091					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCCCTCACCTCTCCGTGACAG	0.657000								DNA polymerases (catalytic subunits)					9	19					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													5	70					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71606093	71606093	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:71606093G>A	ENST00000265382.3	+	15	1845	c.1540G>A	c.(1540-1542)Gag>Aag	p.514_514insK	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	0						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TACCTTGGAAGAGGGGACCAT	0.433000													25	58					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785327	82785327	+	Silent	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:82785327A>G	ENST00000423517.2	-	2	967	c.630T>C	c.(628-630)ccT>ccC	p.P210P	PCLO_ENST00000333891.8_Silent_p.P210P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	210	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTGTTGTAAAGGAGGTTTTA	0.458000													10	33					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													5	87					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20978364	20978364	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:20978364G>C	ENST00000380249.1	+	39	4652	c.4288G>C	c.(4288-4290)Gaa>Caa	p.E1430Q	FOCAD_ENST00000338382.6_Missense_Mutation_p.E1430Q|FOCAD_ENST00000605086.1_Missense_Mutation_p.E866Q	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1430				E -> D (in Ref. 6; AAH01246).		integral to membrane	binding										ACTGTGCCTTGAAATTATGGT	0.423000													11	10					0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4750894	4750894	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:4750894T>C	ENST00000450067.2	-	7	1053	c.743A>G	c.(742-744)tAt>tGt	p.Y248C	ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000304283.4_Intron			Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	0										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TGGCACGTCATATACACAACA	0.587000													75	139					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130467229	130467229	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:130467229G>A	ENST00000368134.2	-	12	1729	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L	SAMD3_ENST00000439090.2_Missense_Mutation_p.S374L|SAMD3_ENST00000437477.2_Missense_Mutation_p.S374L|SAMD3_ENST00000457563.2_Missense_Mutation_p.S398L	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	374										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GTCCACCACTGAAAAAGAAGT	0.323000													32	57					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42315638	42315638	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr20:42315638G>A	ENST00000217026.4	+	5	553	c.426G>A	c.(424-426)gaG>gaA	p.E142E	MYBL2_ENST00000396863.4_Silent_p.E118E	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	142	HTH myb-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGAGGAGGAGGACCGCATCA	0.617000													21	34					0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55471317	55471317	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:55471317G>A	ENST00000394600.3	-	12	1895	c.1159C>T	c.(1159-1161)Ctg>Ttg	p.L387L	MTIF2_ENST00000403721.1_Silent_p.L387L|MTIF2_ENST00000263629.4_Silent_p.L387L	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	387					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCAGCAACCAGAACAGAGCCT	0.343000													13	56					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138660749	138660749	+	Silent	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:138660749C>G	ENST00000298480.5	+	15	1550	c.1476C>G	c.(1474-1476)ctC>ctG	p.L492L	KCNT1_ENST00000491806.2_Silent_p.L459L|KCNT1_ENST00000371757.2_Silent_p.L492L|KCNT1_ENST00000488444.2_Silent_p.L473L|KCNT1_ENST00000263604.3_Silent_p.L473L|KCNT1_ENST00000487664.1_Silent_p.L447L|KCNT1_ENST00000486577.2_Silent_p.L453L|KCNT1_ENST00000490355.2_Silent_p.L473L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	492						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCCAGATCCTCAAACCTGAAA	0.612000													17	16					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283460	152283460	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:152283460T>A	ENST00000368799.1	-	3	3937	c.3902A>T	c.(3901-3903)cAg>cTg	p.Q1301L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1301	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			atctcttgactgctcccgaga	0.542000									Ichthyosis				51	350					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5641793	5641793	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:5641793A>G	ENST00000292123.5	+	4	489	c.382A>G	c.(382-384)Atc>Gtc	p.I128V	SAFB_ENST00000592224.1_Missense_Mutation_p.I128V|SAFB_ENST00000588852.1_Missense_Mutation_p.I128V|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000433404.1_5'UTR	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	128					chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGACATCGACATCATGGATAT	0.498000													41	72					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900443	151900443	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chrX:151900443G>C	ENST00000393900.3	-	3	711	c.358C>G	c.(358-360)Ctg>Gtg	p.L120V	MAGEA12_ENST00000393869.3_Missense_Mutation_p.L120V|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.L120V	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	120	MAGE.							p.L120M(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGAGCAGAAAATGAACC	0.498000													99	35					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77079611	77079611	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:77079611C>T	ENST00000579016.1	+	9	1190	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	397						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGCATCTGCTCCTTGCCTTTC	0.627000													38	14					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55033157	55033157	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:55033157A>G	ENST00000417545.2	+	3	627	c.541A>G	c.(541-543)Atc>Gtc	p.I181V		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	165						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AACCACCAGAATCAGCCACTG	0.403000													7	56					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160953644	160953644	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:160953644G>A	ENST00000447678.1	-	39	6000	c.5880C>T	c.(5878-5880)ctC>ctT	p.L1960L	LPA_ENST00000484276.1_Intron|LPA_ENST00000316300.5_Silent_p.L1960L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4468	Kringle 18.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAATAACAAGGAGCTGGGCTT	0.423000													5	60					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26653720	26653720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:26653720C>T	ENST00000288710.2	+	6	819	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		GCAAGCCCTTCAGGCTCATAA	0.463000													41	181					0	0	1	0	0
PVRIG	79037	broad.mit.edu	37	7	99818176	99818176	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:99818176C>G	ENST00000317271.2	+	4	839	c.476C>G	c.(475-477)tCt>tGt	p.S159C	GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	159						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGGGCTCTCTGCCCCGCCG	0.672000													19	107					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42556897	42556897	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:42556897C>T	ENST00000318522.5	+	23	2758	c.2496C>T	c.(2494-2496)gcC>gcT	p.A832A	EML4_ENST00000453191.2_Silent_p.A96A|EML4_ENST00000402711.2_Silent_p.A774A|EML4_ENST00000401738.3_Silent_p.A843A	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	832					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGTACAGTGCCCACAGCAGCC	0.423000			T	ALK	NSCLC								14	190					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20867006	20867006	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:20867006G>A	ENST00000380249.1	+	20	2549	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	FOCAD_ENST00000338382.6_Missense_Mutation_p.E729K|FOCAD_ENST00000605086.1_Missense_Mutation_p.E165K	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	729						integral to membrane	binding										TCATCTGCCTGAAAAGGTAGG	0.378000													50	33					0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170634356	170634356	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:170634356C>G	ENST00000513761.1	+	12	2835	c.2276C>G	c.(2275-2277)cCt>cGt	p.P759R	CLCN3_ENST00000347613.4_Missense_Mutation_p.P759R|CLCN3_ENST00000360642.3_Missense_Mutation_p.P732R|CLCN3_ENST00000504131.2_Missense_Mutation_p.P742R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	759	CBS 2.				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACATGAGCCCTTTTACAGTG	0.507000													28	44					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96166139	96166139	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:96166139G>T	ENST00000453304.1	-	6	1280	c.932C>A	c.(931-933)aCg>aAg	p.T311K	UNC5C_ENST00000506749.1_Missense_Mutation_p.T311K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	311	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGCATAACGTAGTACAGGC	0.433000													8	111					0.0381472	0.0383419	1	1	0
BCAS1	8537	broad.mit.edu	37	20	52573993	52573993	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr20:52573993T>C	ENST00000395961.3	-	10	1560	c.1394A>G	c.(1393-1395)aAt>aGt	p.N465S	BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000434986.2_Intron	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	465						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GTCTTTCCCATTTATTTCTTC	0.433000													27	35					0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218607543	218607543	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:218607543G>C	ENST00000366929.4	+	4	1181	c.714G>C	c.(712-714)tgG>tgC	p.W238C	TGFB2_ENST00000366930.4_Missense_Mutation_p.W210C|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	210					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TTCATGAATGGCTTCACCATA	0.423000													40	93					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719127	140719127	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr5:140719127G>C	ENST00000394576.2	+	1	589	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGGTGCTGGAGCGCTCTCT	0.587000													36	24					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908791	139908791	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr5:139908791C>G	ENST00000297183.6	+	29	6384	c.6260C>G	c.(6259-6261)tCt>tGt	p.S2087C	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2087C|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S2087C|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S470C	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGTGTGTCTGATTTAAGT	0.498000													4	102					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16703230	16703230	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr5:16703230T>C	ENST00000513610.1	-	23	2768	c.2314A>G	c.(2314-2316)Ata>Gta	p.I772V	MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000274203.9_Missense_Mutation_p.I129V|MYO10_ENST00000505695.1_Missense_Mutation_p.I111V|MYO10_ENST00000515803.1_Missense_Mutation_p.I111V|MYO10_ENST00000427430.2_Missense_Mutation_p.I129V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	772	IQ 2.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTCTTCTGTATTATCACCACA	0.388000													5	10					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354706	10354706	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:10354706C>T	ENST00000255381.2	-	28	3912	c.3802G>A	c.(3802-3804)Gaa>Aaa	p.E1268K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1268					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGTTGCTCTTCTTCCTTTGTT	0.428000													40	78					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180309621	180309621	+	Silent	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:180309621C>A	ENST00000410066.1	-	9	1782	c.1179G>T	c.(1177-1179)cgG>cgT	p.R393R	ZNF385B_ENST00000409692.1_Silent_p.R291R|ZNF385B_ENST00000336917.5_Silent_p.R291R|ZNF385B_ENST00000409343.1_Silent_p.R317R|ZNF385B_ENST00000466398.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	393						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TACTCGGGCTCCGCTGGAGTT	0.502000													42	163					1.19451e-25	1.29296e-25	1	1	0
BMP6	654	broad.mit.edu	37	6	7845476	7845476	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:7845476C>A	ENST00000283147.6	+	2	927	c.768C>A	c.(766-768)ttC>ttA	p.F256L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	256					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CTGCAGAATTCCGCATCTACA	0.458000													86	30					6.8793e-45	7.57107e-45	1	1	0
ABCB1	5243	broad.mit.edu	37	7	87144634	87144634	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:87144634C>T	ENST00000265724.3	-	26	3612	c.3195G>A	c.(3193-3195)acG>acA	p.T1065T	ABCB1_ENST00000543898.1_Silent_p.T1001T|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1065	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCAGAGCCAGCGTCTGGCCCT	0.567000													136	43					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510887	48510887	+	Silent	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:48510887C>G	ENST00000446524.1	+	1	619	c.543C>G	c.(541-543)ccC>ccG	p.P181P		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACATGTATCCCTTATTGAAAC	0.438000													71	215					0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131600028	131600028	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:131600028G>A	ENST00000436267.2	-	8	934	c.785C>T	c.(784-786)gCc>gTc	p.A262V	CCBL1_ENST00000320665.6_Missense_Mutation_p.A118V|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.A168V			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	168					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GAATTTGCCGGCCAGCTCCAT	0.612000													4	74					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237324	33237324	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:33237324C>T	ENST00000401073.2	+	6	2614	c.2544C>T	c.(2542-2544)gcC>gcT	p.A848A	KIAA1522_ENST00000373480.1_Silent_p.A789A|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.A800A	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	789	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTAGTTCCGCCCCAGGGCATG	0.672000													7	25					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38463979	38463979	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr5:38463979G>C	ENST00000322350.5	+	22	3267	c.2921G>C	c.(2920-2922)aGa>aCa	p.R974T	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R982T|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R340T|EGFLAM_ENST00000514476.1_Missense_Mutation_p.R117T|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R740T|EGFLAM_ENST00000397210.3_Missense_Mutation_p.R117T|EGFLAM_ENST00000506135.1_Missense_Mutation_p.R117T	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	982	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAATATATGAGAGGGCTCGTG	0.522000													24	59					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65790418	65790418	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:65790418G>A	ENST00000312106.5	-	2	1468	c.1331C>T	c.(1330-1332)aCc>aTc	p.T444I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	444					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CAAGGATTGGGTCAGGTTCCG	0.547000											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	47					0	0	1	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs150975459	by1000genomes	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612000													3	35					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													5	66					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	9					0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73588703	73588703	+	Silent	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:73588703G>C	ENST00000394936.3	-	5	654	c.507C>G	c.(505-507)gcC>gcG	p.A169A	PSAP_ENST00000394934.1_Silent_p.A169A			P07602	SAP_HUMAN	prosaposin	169					glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCATGAAGGGGGCCACCACCT	0.597000													54	77					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215990498	215990498	+	Silent	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:215990498A>G	ENST00000366943.2	-	48	9797	c.9411T>C	c.(9409-9411)aaT>aaC	p.N3137N	USH2A_ENST00000307340.3_Silent_p.N3137N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3137	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAATGATGCCATTTGGCTTCC	0.403000										HNSCC(13;0.011)			34	104					0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102098127	102098127	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:102098127G>A	ENST00000292566.3	-	3	662	c.623C>T	c.(622-624)tCg>tTg	p.S208L		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	208						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						CGGGGCAGCCGACGGGGCCGA	0.711000													4	19					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27591595	27591595	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:27591595T>A	ENST00000225388.4	-	4	2108	c.2050A>T	c.(2050-2052)Atc>Ttc	p.I684F	NUFIP2_ENST00000579665.1_Missense_Mutation_p.I109F	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	684						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TTGTAAGTGATTATCCTTTTG	0.378000													49	73					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10571732	10571732	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:10571732A>T	ENST00000380702.2	+	12	1352	c.1352A>T	c.(1351-1353)cAc>cTc	p.H451L	PDE4A_ENST00000352831.6_Missense_Mutation_p.H473L|PDE4A_ENST00000293683.5_Missense_Mutation_p.H447L|PDE4A_ENST00000344979.3_Missense_Mutation_p.H234L|PDE4A_ENST00000592685.1_Missense_Mutation_p.H451L|PDE4A_ENST00000440014.2_Missense_Mutation_p.H412L			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	473	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GCTGCCATCCACGATGTGGAT	0.597000													22	42					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43615160	43615160	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:43615160C>T	ENST00000355710.3	+	14	2806	c.2574C>T	c.(2572-2574)atC>atT	p.I858I	RET_ENST00000340058.5_Silent_p.I858I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	858	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCTGGCAGATCTCACAGGGGA	0.657000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				22	40					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62204554	62204554	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr3:62204554C>T	ENST00000474889.1	+	13	2562	c.2185C>T	c.(2185-2187)Cgc>Tgc	p.R729C	PTPRG_ENST00000295874.10_Missense_Mutation_p.R729C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	729					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AATGATAAGCCGCCCTGCTCC	0.507000													36	21					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504541	151504541	+	Silent	SNP	G	G	A	rs146043387		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:151504541G>A	ENST00000317605.4	+	1	1465	c.360G>A	c.(358-360)tcG>tcA	p.S120S	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	120					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCACGGCGTCGGGCTATCTCT	0.627000													44	65					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10798292	10798292	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:10798292A>G	ENST00000449870.1	+	18	2659	c.2342A>G	c.(2341-2343)tAt>tGt	p.Y781C	ILF3_ENST00000588657.1_Missense_Mutation_p.Y781C|ILF3_ENST00000590261.1_Missense_Mutation_p.Y777C|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000318511.3_Missense_Mutation_p.Y777C	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	777	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CAGAAAGGCTATAACCATGGA	0.582000													22	38					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43345029	43345029	+	RNA	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:43345029C>T	ENST00000344686.2	-	0	2175				MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAGCTCTCTCGGCTGGGCAT	0.607000													5	136					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167328885	167328885	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:167328885A>T	ENST00000409855.1	-	5	640	c.514T>A	c.(514-516)Tca>Aca	p.S172T		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	172					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AAGGAAAATGATCCTGCCCAG	0.343000													7	10					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65216707	65216707	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr14:65216707A>C	ENST00000389722.3	-	33	6821	c.6768T>G	c.(6766-6768)ttT>ttG	p.F2256L	SPTB_ENST00000556626.1_Missense_Mutation_p.F2256L|SPTB_ENST00000342835.4_5'UTR	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACCTCAGCTTAAAGACGTGCT	0.572000													41	54					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													4	97					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12799758	12799758	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:12799758C>T	ENST00000379672.5	+	3	428	c.128C>T	c.(127-129)tCc>tTc	p.S43F	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S43F|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S43F	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	43	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AAACAGGTGTCCCACAGCACG	0.627000													7	10					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94038704	94038704	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:94038704C>G	ENST00000297268.6	+	17	1334	c.863C>G	c.(862-864)cCa>cGa	p.P288R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	288					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTGGGTCTTCCAGGCCTCTCC	0.483000										HNSCC(75;0.22)			39	168					0	0	1	0	0
CCDC140	151278	broad.mit.edu	37	2	223169080	223169080	+	Silent	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:223169080A>G	ENST00000295226.1	+	2	843	c.459A>G	c.(457-459)aaA>aaG	p.K153K		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	153										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		agagaagaaaagagagaaaga	0.453000													10	8					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103544243	103544243	+	Silent	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:103544243G>C	ENST00000358392.2	-	3	776	c.459C>G	c.(457-459)ctC>ctG	p.L153L	COL11A1_ENST00000353414.4_Silent_p.L153L|COL11A1_ENST00000370096.3_Silent_p.L153L|COL11A1_ENST00000512756.1_Silent_p.L153L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	153	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGTTCTGAAGAGGGGATAGT	0.378000													4	75					0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62551943	62551943	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:62551943G>A	ENST00000448257.2	+	7	892	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	CDK1_ENST00000373809.2_Missense_Mutation_p.V174M|CDK1_ENST00000395284.3_Missense_Mutation_p.V231M|CDK1_ENST00000316629.4_Missense_Mutation_p.V174M			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	231	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						GTGGCCAGAAGTGGAATCTTT	0.353000													20	51					0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70047948	70047948	+	Missense_Mutation	SNP	A	A	T	rs140968278	byFrequency	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:70047948A>T	ENST00000394295.4	+	12	1149	c.901A>T	c.(901-903)Atc>Ttc	p.I301F	ANXA4_ENST00000409920.1_Missense_Mutation_p.I279F|ANXA4_ENST00000536030.1_Missense_Mutation_p.I217F	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	299					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						GTACTCGTTCATCAAGGTAGG	0.473000													54	40					0	0	1	0	0
CUL5	8065	broad.mit.edu	37	11	107965182	107965182	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:107965182C>A	ENST00000393094.2	+	14	2124	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	503					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATAAAAGTATCTGAAGATTTG	0.284000													76	39					5.02048e-33	5.49464e-33	1	1	0
ACAP1	9744	broad.mit.edu	37	17	7249724	7249724	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:7249724G>A	ENST00000158762.3	+	12	1127	c.921G>A	c.(919-921)gtG>gtA	p.V307V		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	307	PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTGTGACTGTGGTGGTGGATG	0.587000											OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	112					0	0	1	0	0
MICU1	10367	broad.mit.edu	37	10	74267999	74267999	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:74267999G>A	ENST00000398761.4	-	7	704	c.572C>T	c.(571-573)gCt>gTt	p.A191V	MICU1_ENST00000418483.2_Intron|MICU1_ENST00000361114.5_Missense_Mutation_p.A189V|MICU1_ENST00000398763.4_5'UTR|MICU1_ENST00000401998.3_Missense_Mutation_p.A189V			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	189					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										GCCTTCATCAGCAAATTTTTC	0.338000													3	5					0	0	1	0	0
RPS25	6230	broad.mit.edu	37	11	118886642	118886642	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:118886642G>A	ENST00000527673.1	-	4	696	c.291C>T	c.(289-291)atC>atT	p.I97I		NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AAACCAGTTTGATAAGTCCTA	0.453000													49	34					0	0	1	0	0
TMEM248	55069	broad.mit.edu	37	7	66418288	66418288	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:66418288T>C	ENST00000341567.4	+	6	1111	c.856T>C	c.(856-858)Tgc>Cgc	p.C286R		NM_017994.4	NP_060464.1			transmembrane protein 248																		AACAATGTTTTGCTATGCTGT	0.423000													66	186					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87072646	87072646	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:87072646C>T	ENST00000265723.4	-	12	1456	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	ABCB4_ENST00000545634.1_Missense_Mutation_p.D449N|ABCB4_ENST00000453593.1_Missense_Mutation_p.D449N|ABCB4_ENST00000359206.3_Missense_Mutation_p.D449N|ABCB4_ENST00000358400.3_Missense_Mutation_p.D449N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	449	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTGCCCTCATCAGGGTCATAG	0.507000													197	654					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11756807	11756807	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:11756807C>T	ENST00000381486.2	+	21	3673	c.3373C>T	c.(3373-3375)Cac>Tac	p.H1125Y	GREB1_ENST00000396123.1_Missense_Mutation_p.H123Y|GREB1_ENST00000234142.5_Missense_Mutation_p.H1125Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1125	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTCCCGCTCCCACGACTCAGC	0.537000													73	276					0	0	1	0	0
MOB1B	92597	broad.mit.edu	37	4	71844928	71844928	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:71844928C>A	ENST00000309395.2	+	5	694	c.493C>A	c.(493-495)Cag>Aag	p.Q165K	MOB1B_ENST00000396051.2_Missense_Mutation_p.Q170K|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOL1A_HUMAN	MOB kinase activator 1B	165					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding										CATTTATCATCAGCATTTTGA	0.398000													6	143					0.248553	0.248553	1	1	0
WRN	7486	broad.mit.edu	37	8	30924659	30924659	+	Silent	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr8:30924659C>A	ENST00000298139.5	+	6	864	c.615C>A	c.(613-615)ctC>ctA	p.L205L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	205	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AATTTCCTCTCACTGAGGACC	0.388000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				38	22					7.63091e-17	8.0822e-17	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98592366	98592366	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:98592366G>A	ENST00000359863.4	+	66	10371	c.10162G>A	c.(10162-10164)Gtc>Atc	p.V3388I	TRRAP_ENST00000355540.3_Missense_Mutation_p.V3359I|TRRAP_ENST00000446306.3_Missense_Mutation_p.V3377I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3388					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGTCCAACGTCTCGACCAT	0.567000													18	475					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13100341	13100341	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr18:13100341A>T	ENST00000506447.1	+	38	6781	c.6701A>T	c.(6700-6702)cAa>cTa	p.Q2234L	CEP192_ENST00000325971.8_Missense_Mutation_p.Q1638L|CEP192_ENST00000430049.2_Missense_Mutation_p.Q1759L|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1829										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATTTAACTCAAGTGGAACTT	0.358000													36	68					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8958868	8958868	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:8958868T>C	ENST00000256707.3	-	3	345	c.164A>G	c.(163-165)aAg>aGg	p.K55R	KIDINS220_ENST00000319688.5_Missense_Mutation_p.K55R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.K55R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.K13R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.K55R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	55					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATTAATTCCTTCACTATTTC	0.333000													57	97					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52985358	52985358	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:52985358C>T	ENST00000293745.2	-	5	938	c.853G>A	c.(853-855)Gac>Aac	p.D285N	KRT72_ENST00000398066.3_Missense_Mutation_p.D97N|KRT72_ENST00000354310.4_Missense_Mutation_p.D285N|KRT72_ENST00000537672.2_Missense_Mutation_p.D285N	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	285	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CGGTTGTTGTCCATTGACAGG	0.577000													25	40					0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chrX:155255062C>G	ENST00000285718.7	+	0	1367				WASH6P_ENST00000461007.1_RNA																							CACCTTCCCCCCCAGACCCAG	0.627000													5	61					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18220876	18220876	+	Missense_Mutation	SNP	C	C	A	rs148166987	byFrequency	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:18220876C>A	ENST00000406438.3	+	1	2253	c.1773C>A	c.(1771-1773)agC>agA	p.S591R		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	591										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GGAAGGAGAGCGATGGTCAGT	0.582000													48	53					3.77016e-25	4.05859e-25	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762885	92762885	+	Silent	SNP	G	G	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:92762885G>T	ENST00000318238.4	-	5	3616	c.2400C>A	c.(2398-2400)ctC>ctA	p.L800L	SAMD9L_ENST00000411955.1_Silent_p.L800L|SAMD9L_ENST00000437805.1_Silent_p.L800L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	800										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATCCACAAGGAGAAGCACAG	0.373000													43	182					1.00001e-27	1.0884e-27	1	1	0
ZNF274	10782	broad.mit.edu	37	19	58698313	58698313	+	Splice_Site	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:58698313G>A	ENST00000326804.4	+	4	619		c.e4-1		ZNF274_ENST00000597818.1_Splice_Site|ZNF274_ENST00000345813.3_Intron|ZNF274_ENST00000424679.2_Intron	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274						viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CCTTTGAGCAGAACATCAGCT	0.502000													8	22					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71605536	71605536	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:71605536G>C	ENST00000355962.4	-	7	865	c.732C>G	c.(730-732)atC>atG	p.I244M	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	244					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CATCAGCTAAGATGGGGACAC	0.348000													18	51					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88387594	88387594	+	Splice_Site	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:88387594G>C	ENST00000419482.2	+	3	613	c.528_splice	c.e3+1	p.V176_splice	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Splice_Site_p.V176_splice	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	176	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TCTTCGGAGTGGTAGGCCCCC	0.587000													9	17					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758298	111758298	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:111758298G>A	ENST00000261726.6	+	17	2639	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	829						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCGCGGGGACGAGGCCCCTGT	0.771000													9	10					0	0	1	0	0
PRIMPOL	201973	broad.mit.edu	37	4	185593502	185593502	+	Silent	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:185593502A>G	ENST00000314970.6	+	7	1165	c.732A>G	c.(730-732)acA>acG	p.T244T	CCDC111_ENST00000515774.1_Silent_p.T115T|CCDC111_ENST00000512834.1_Silent_p.T244T|CCDC111_ENST00000503752.1_Silent_p.T244T	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		244					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		AAAGCTGGACATCGAATTCAA	0.428000													32	53					0	0	1	0	0
UGT1A4	54657	broad.mit.edu	37	2	234627964	234627964	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:234627964G>A	ENST00000373409.3	+	1	541	c.498G>A	c.(496-498)tcG>tcA	p.S166S	UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		AGTACCTGTCGATTCCTGCTG	0.458000													97	161					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88017810	88017810	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:88017810C>T	ENST00000393207.1	+	4	504	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	BANP_ENST00000393208.2_Missense_Mutation_p.P103S|BANP_ENST00000286122.7_Missense_Mutation_p.P95S|BANP_ENST00000479780.2_Missense_Mutation_p.P103S|BANP_ENST00000355022.4_Missense_Mutation_p.P103S|BANP_ENST00000355163.5_Missense_Mutation_p.P109S|BANP_ENST00000538234.1_Missense_Mutation_p.P103S	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	95					cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CATCCAGGTCCCCATGGTGGC	0.567000													6	11					0	0	1	0	0
TMEM55A	55529	broad.mit.edu	37	8	92030633	92030633	+	Silent	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr8:92030633A>G	ENST00000285419.3	-	4	785	c.471T>C	c.(469-471)tgT>tgC	p.C157C	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	157						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ATGTGTTTCCACAGTGCCCAC	0.413000													58	126					0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018692	1018692	+	Splice_Site	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:1018692G>A	ENST00000398484.2	+	8	1652		c.e8-1		FGFRL1_ENST00000504138.1_Splice_Site|FGFRL1_ENST00000510644.1_Splice_Site|FGFRL1_ENST00000264748.6_Splice_Site			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1						regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCTCTTGCAGACCCAAAACC	0.662000													24	12					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287526	238287526	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:238287526G>A	ENST00000295550.4	-	6	2702	c.2250C>T	c.(2248-2250)ctC>ctT	p.L750L	COL6A3_ENST00000409809.1_Silent_p.L544L|COL6A3_ENST00000353578.4_Silent_p.L544L|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Silent_p.L343L|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Silent_p.L544L|COL6A3_ENST00000347401.3_Silent_p.L549L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	750	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCCAGCTGTGAGCAGAAGCA	0.577000													12	33					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138660773	138660773	+	Silent	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:138660773C>G	ENST00000298480.5	+	15	1574	c.1500C>G	c.(1498-1500)gtC>gtG	p.V500V	KCNT1_ENST00000491806.2_Silent_p.V467V|KCNT1_ENST00000371757.2_Silent_p.V500V|KCNT1_ENST00000488444.2_Silent_p.V481V|KCNT1_ENST00000263604.3_Silent_p.V481V|KCNT1_ENST00000487664.1_Silent_p.V455V|KCNT1_ENST00000486577.2_Silent_p.V461V|KCNT1_ENST00000490355.2_Silent_p.V481V			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	500						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGTTTCACGTCAAGTTTGCTG	0.612000													11	12					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245027347	245027352	+	In_Frame_Del	DEL	TCCTCC	TCCTCC	-	rs6675421	by1000genomes	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:245027347_245027352delTCCTCC	ENST00000444376.2	-	1	492_497	c.258_263delGGAGGA	c.(256-264)gaa>ga	p.EEE92del	HNRNPU_ENST00000283179.9_In_Frame_Del_p.EEE92del	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	92	Asp/Glu-rich (acidic).|Poly-Glu.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			ctcttcctcttcctcctcctcttcAT	0.709													12	19	---	---	---	---					
HK2	3099	broad.mit.edu	37	2	75117925	75117925	+	Splice_Site	DEL	T	T	-	rs141874180		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:75117925delT	ENST00000290573.2	+	18	3211	c.2609_splice	c.e18-1	p.F871_splice	HK2_ENST00000409174.1_Splice_Site_p.F843_splice	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	871	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTTTTCCAGCTTTGCCAAAGT	0.483													220	194	---	---	---	---					
GOT1L1	137362	broad.mit.edu	37	8	37791833	37791834	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr8:37791833_37791834insT	ENST00000307599.4	-	9	1342_1343	c.1243_1244insA	c.(1243-1245)actfs	p.T415fs		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	415					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TCCAATCAGTGTTTTTTTTTCC	0.371													8	142	---	---	---	---					
RP11-511B23.2	0	broad.mit.edu	37	12	93428951	93428951	+	RNA	DEL	G	G	-			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:93428951delG	ENST00000550324.1	-	0	85				RP11-511B23.2_ENST00000549930.1_RNA																							GTCTCTTTCTGGGCTACCTTA	0.438													2	4	---	---	---	---					
SERPINF1	5176	broad.mit.edu	37	17	1679892	1679906	+	In_Frame_Del	DEL	AATTTGACCTTGATA	AATTTGACCTTGATA	-	rs138744676		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:1679892_1679906delAATTTGACCTTGATA	ENST00000254722.4	+	7	1016_1030	c.853_867delAATTTGACCTTGATA	c.(853-867)del	p.NLTLI285del		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	285					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AGTGACCCAGAATTTGACCTTGATAGAGGAGAGCC	0.507													72	63	---	---	---	---					
ZNF57	126295	broad.mit.edu	37	19	2917737	2917747	+	Frame_Shift_Del	DEL	TCACTTGGTCC	TCACTTGGTCC	-			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:2917737_2917747delTCACTTGGTCC	ENST00000306908.5	+	4	1266_1276	c.1118_1128delTCACTTGGTCC	c.(1117-1128)tfs	p.FTWS373fs	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Frame_Shift_Del_p.FTWS341fs	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAAAGCCTTCACTTGGTCCTCAACGTTTA	0.450													29	60	---	---	---	---					
ADCK4	79934	broad.mit.edu	37	19	41208550	41208551	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:41208550_41208551insA	ENST00000324464.3	-	10	1148_1149	c.847_848insT	c.(847-849)ggafs	p.G283fs	ADCK4_ENST00000243583.6_Frame_Shift_Ins_p.G242fs|ADCK4_ENST00000450541.1_Frame_Shift_Ins_p.G242fs	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	283	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GTCACACTCCCAAGCCAGCTCC	0.649											OREG0025476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	65	---	---	---	---