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
NRD1	4898	broad.mit.edu	37	1	52305975	52305975	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:52305975C>T	ENST00000354831.7	-	2	742	c.553G>A	c.(553-555)Gat>Aat	p.D185N	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.D53N|NRD1_ENST00000352171.7_Missense_Mutation_p.D185N|NRD1_ENST00000539524.1_Missense_Mutation_p.D53N	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	178	Asp/Glu-rich (highly acidic).				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						gtatcaagatcatcatcatgt	0.358000													18	42					0	0	0.038395	0	0
KRTAP6-3	337968	broad.mit.edu	37	21	31964950	31964950	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:31964950C>T	ENST00000391624.1	+	1	192	c.165C>T	c.(163-165)ggC>ggT	p.G55G		NM_181605.3	NP_853636.3			keratin associated protein 6-3											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						gaggcctgggctgtggctatg	0.617000													14	27					0	0	0.033300	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352533	58352533	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:58352533A>T	ENST00000442832.4	+	3	725	c.491A>T	c.(490-492)cAt>cTt	p.H164L	CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.H164L|ZNF587B_ENST00000316462.4_Intron	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	164					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding										TGTAAGTTGCATGTGTCAGGG	0.507000													34	110					0	0	0.050027	0	0
AURKA	6790	broad.mit.edu	37	20	54945601	54945601	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:54945601T>G	ENST00000395909.4	-	10	1534	c.969A>C	c.(967-969)ttA>ttC	p.L323F	AURKA_ENST00000371356.2_Missense_Mutation_p.L323F|AURKA_ENST00000312783.6_Missense_Mutation_p.L323F|AURKA_ENST00000347343.2_Missense_Mutation_p.L323F|AURKA_ENST00000395914.1_Missense_Mutation_p.L323F|AURKA_ENST00000395915.3_Missense_Mutation_p.L323F|AURKA_ENST00000395907.1_Missense_Mutation_p.L323F|AURKA_ENST00000395911.1_Missense_Mutation_p.L323F|AURKA_ENST00000395913.3_Missense_Mutation_p.L323F	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	323	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GCTTCCCAACTAAAAATTCAT	0.478000													30	88					0	0	0.054565	0	0
ZNF626	199777	broad.mit.edu	37	19	20807939	20807939	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:20807939C>G	ENST00000601440.1	-	4	890	c.744G>C	c.(742-744)aaG>aaC	p.K248N	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TATGATTTCTCTTATGTGTAG	0.383000													45	104					0	0	0.045515	0	0
MYOM3	127294	broad.mit.edu	37	1	24392393	24392393	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:24392393G>A	ENST00000330966.7	-	29	3693	c.3531C>T	c.(3529-3531)ctC>ctT	p.L1177L	MYOM3_ENST00000329601.7_Silent_p.L1176L|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Silent_p.L1174L|MYOM3_ENST00000338909.5_Silent_p.L67L			Q5VTT5	MYOM3_HUMAN	myomesin 3	1174	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTCAATGCAGAGAAGTCCCG	0.572000													55	138					0	0	0.048971	0	0
KAT8	84148	broad.mit.edu	37	16	31141847	31141847	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:31141847C>T	ENST00000543774.2	+	10	1412	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L	KAT8_ENST00000448516.2_Silent_p.L359L|KAT8_ENST00000219797.4_Silent_p.L359L			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	359					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										TGGGCAAGCTCAGCTACCGCA	0.612000													8	15					0	0	0.093190	0	0
FAM214A	56204	broad.mit.edu	37	15	52901214	52901214	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:52901214T>C	ENST00000261844.7	-	6	2049	c.1897A>G	c.(1897-1899)Atg>Gtg	p.M633V	FAM214A_ENST00000546305.2_Missense_Mutation_p.M640V	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	633																	CCATTGCTCATTTCTTGCTCC	0.303000													44	170					0	0	0.048971	0	0
FYCO1	79443	broad.mit.edu	37	3	46006596	46006596	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:46006596T>A	ENST00000296137.2	-	9	3284	c.3079A>T	c.(3079-3081)Agc>Tgc	p.S1027C	FYCO1_ENST00000535325.1_Missense_Mutation_p.S1027C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1027					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCCCTGAGGCTCTTGCACTCT	0.562000													25	67					0	0	0.091800	0	0
ULK4	54986	broad.mit.edu	37	3	41841697	41841697	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:41841697C>T	ENST00000301831.4	-	20	2399	c.1937G>A	c.(1936-1938)gGa>gAa	p.G646E		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	646							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCCTATTTCTCCTGTAATAAA	0.418000													109	176					0	0	0.048971	0	0
SAMD15	161394	broad.mit.edu	37	14	77845304	77845304	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:77845304G>C	ENST00000216471.4	+	1	1829	c.1543G>C	c.(1543-1545)Gat>Cat	p.D515H	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	515										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGAAGTTGTAGATTTGTCCCA	0.413000													37	67					0	0	0.080422	0	0
ZBED4	9889	broad.mit.edu	37	22	50280171	50280171	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr22:50280171T>A	ENST00000216268.5	+	2	3338	c.2861T>A	c.(2860-2862)cTc>cAc	p.L954H		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATGTCCACCCTCAGCCAGGTC	0.602000													9	41					0	0	0.080935	0	0
IPO8	10526	broad.mit.edu	37	12	30829450	30829450	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:30829450G>A	ENST00000256079.4	-	6	1049	c.711C>T	c.(709-711)atC>atT	p.I237I	IPO8_ENST00000544829.1_Silent_p.I32I	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	237					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CGGTCCTGTCGATAATAGTTC	0.428000													20	75					0	0	0.062417	0	0
CXCL6	6372	broad.mit.edu	37	4	74702788	74702788	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:74702788C>G	ENST00000226317.5	+	2	471	c.217C>G	c.(217-219)Ccg>Gcg	p.P73A	CXCL6_ENST00000515050.1_Missense_Mutation_p.P73A	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	73					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCCCGCAGGCCCGCAGTGCTC	0.542000													12	56					0	0	0.080935	0	0
H2AFJ	55766	broad.mit.edu	37	12	14927572	14927572	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:14927572G>A	ENST00000544848.1	+	1	303	c.168G>A	c.(166-168)ttG>ttA	p.L56L		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	56					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						CGGCGGTGTTGGAGTACCTTA	0.667000													14	44					0	0	0.033300	0	0
H6PD	9563	broad.mit.edu	37	1	9324830	9324830	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:9324830C>T	ENST00000377403.2	+	5	2580	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	H6PD_ENST00000602477.1_Missense_Mutation_p.R771W	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	760	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCTGGTGAGCCGGGTGGGCCA	0.637000													12	30					0	0	0.080935	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977145	29977145	+	RNA	SNP	G	G	C	rs115037049	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:29977145G>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							GCTTGTAAAGGTGAGACCCTG	0.512000													5	54					0	0	0.014758	0	0
PITPNM2	57605	broad.mit.edu	37	12	123471235	123471235	+	Silent	SNP	C	C	T	rs147680163	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:123471235C>T	ENST00000280562.5	-	23	3742	c.3537G>A	c.(3535-3537)ccG>ccA	p.P1179P	PITPNM2_ENST00000542749.1_Silent_p.P1185P|PITPNM2_ENST00000320201.4_Silent_p.P1185P|PITPNM2_ENST00000392428.1_Silent_p.P906P			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGTGCCGCAGCGGGTCATGCA	0.687000													3	19					0	0	0.009096	0	0
SMC2	10592	broad.mit.edu	37	9	106894304	106894304	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:106894304G>C	ENST00000286398.7	+	22	3294	c.3006G>C	c.(3004-3006)atG>atC	p.M1002I	SMC2_ENST00000374787.3_Missense_Mutation_p.M1002I|SMC2_ENST00000303219.8_Missense_Mutation_p.M1002I|SMC2_ENST00000374793.3_Missense_Mutation_p.M1002I	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1002					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATGACTTGATGAAGAAGAAGA	0.303000													26	24					0	0	0.091800	0	0
CDYL	9425	broad.mit.edu	37	6	4937844	4937844	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:4937844G>A	ENST00000328908.5	+	6	1287	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	CDYL_ENST00000449732.2_Missense_Mutation_p.D200N|CDYL_ENST00000343762.5_Missense_Mutation_p.D200N|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.D332N			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	386					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CGCTGCCGATGACAGCAAGCT	0.448000													10	26					0	0	0.080935	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136594189	136594189	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:136594189G>T	ENST00000355849.5	+	6	1090	c.680G>T	c.(679-681)gGa>gTa	p.G227V	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	227	Interaction with SIAH1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ACTCCCAGAGGAGTCCTGTCC	0.592000													29	101					4.22769e-11	4.47477e-11	0.030593	1	0
CHN1	1123	broad.mit.edu	37	2	175664879	175664879	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:175664879C>G	ENST00000409900.3	-	13	1658	c.1345G>C	c.(1345-1347)Gag>Cag	p.E449Q	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.E265Q|CHN1_ENST00000295497.7_Missense_Mutation_p.E324Q|CHN1_ENST00000409156.3_Missense_Mutation_p.E423Q	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	449	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			ATAAGCAGCTCCACCACCAGT	0.358000			T	TAF15	extraskeletal myxoid chondrosarcoma								18	25					0	0	0.038395	0	0
KIAA2018	205717	broad.mit.edu	37	3	113380114	113380114	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:113380114G>A	ENST00000316407.4	-	7	825	c.415C>T	c.(415-417)Cct>Tct	p.P139S	KIAA2018_ENST00000478658.1_Missense_Mutation_p.P139S|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	139					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGGTCACTAGGAATAACAACA	0.363000													8	208					0	0	0.038147	0	0
EXT1	2131	broad.mit.edu	37	8	119122781	119122781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:119122781G>A	ENST00000378204.2	-	1	1311	c.505C>T	c.(505-507)Cag>Tag	p.Q169*		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	169					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGCACATACTGAGGTGACAAC	0.483000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				228	202					0	0	0.048971	0	0
BRWD1	54014	broad.mit.edu	37	21	40636565	40636565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636565C>T	ENST00000342449.3	-	17	1784	c.1706G>A	c.(1705-1707)aGa>aAa	p.R569K	BRWD1_ENST00000333229.2_Missense_Mutation_p.R569K|BRWD1_ENST00000380800.3_Missense_Mutation_p.R569K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTAGAATCTCTAATAAGTGG	0.378000													8	83					0	0	0.069234	0	0
KDM1A	23028	broad.mit.edu	37	1	23382467	23382467	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:23382467C>G	ENST00000400181.4	+	7	1030	c.926C>G	c.(925-927)tCa>tGa	p.S309*	KDM1A_ENST00000542151.1_Nonsense_Mutation_p.S309*|KDM1A_ENST00000356634.3_Nonsense_Mutation_p.S289*|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	289	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTGGGGTCTCAGGCTTGGCA	0.358000													44	169					0	0	0.048971	0	0
PCSK2	5126	broad.mit.edu	37	20	17446013	17446013	+	Silent	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:17446013C>G	ENST00000262545.2	+	11	1560	c.1245C>G	c.(1243-1245)ctC>ctG	p.L415L	PCSK2_ENST00000377899.1_Silent_p.L396L|PCSK2_ENST00000536609.1_Silent_p.L380L|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	415	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGACTGTGCTCACCTCCAAAC	0.582000													3	24					0	0	0.014758	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151205059	151205059	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:151205059C>T	ENST00000409426.1	+	6	928	c.483C>T	c.(481-483)ctC>ctT	p.L161L	PIP5K1A_ENST00000441902.2_Silent_p.L161L|PIP5K1A_ENST00000368890.4_Silent_p.L160L|PIP5K1A_ENST00000368888.4_Silent_p.L173L			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	173	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGATTGAACTCTGTAGCTCTG	0.458000													21	65					0	0	0.050027	0	0
RBM47	54502	broad.mit.edu	37	4	40434800	40434800	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:40434800G>C	ENST00000319592.4	-	5	1912	c.1203C>G	c.(1201-1203)atC>atG	p.I401M	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000295971.7_Missense_Mutation_p.I470M|RBM47_ENST00000381795.6_Missense_Mutation_p.I401M|RBM47_ENST00000381793.2_Missense_Mutation_p.I470M|RBM47_ENST00000514014.1_Missense_Mutation_p.I432M			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	416						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCACTGTGTGGATTTTGCCAT	0.592000													11	18					0	0	0.080935	0	0
CACNA1G	8913	broad.mit.edu	37	17	48681582	48681582	+	Silent	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:48681582C>A	ENST00000352832.5	+	21	4539	c.4167C>A	c.(4165-4167)atC>atA	p.I1389I	CACNA1G_ENST00000515411.1_Silent_p.I1412I|CACNA1G_ENST00000514717.1_Silent_p.I1389I|CACNA1G_ENST00000442258.2_Silent_p.I1389I|CACNA1G_ENST00000514181.1_Silent_p.I1412I|CACNA1G_ENST00000512389.1_Silent_p.I1412I|CACNA1G_ENST00000505165.1_Silent_p.I1412I|CACNA1G_ENST00000513964.1_Silent_p.I1412I|CACNA1G_ENST00000503485.1_Silent_p.I1412I|CACNA1G_ENST00000358244.5_Silent_p.I1389I|CACNA1G_ENST00000507510.2_Silent_p.I1412I|CACNA1G_ENST00000354983.4_Silent_p.I1389I|CACNA1G_ENST00000510366.1_Silent_p.I1412I|CACNA1G_ENST00000360761.4_Silent_p.I1389I|CACNA1G_ENST00000507896.1_Silent_p.I1412I|CACNA1G_ENST00000515165.1_Silent_p.I1412I|CACNA1G_ENST00000507609.1_Silent_p.I1412I|CACNA1G_ENST00000513689.2_Silent_p.I1412I|CACNA1G_ENST00000359106.5_Silent_p.I1412I|CACNA1G_ENST00000507336.1_Silent_p.I1412I|CACNA1G_ENST00000502264.1_Silent_p.I1389I|CACNA1G_ENST00000510115.1_Silent_p.I1389I|CACNA1G_ENST00000514079.1_Silent_p.I1412I|CACNA1G_ENST00000515765.1_Silent_p.I1412I|CACNA1G_ENST00000429973.2_Silent_p.I1412I|CACNA1G_ENST00000416767.4_Silent_p.I1412I	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1412					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGAAACCCATCGGCAACATTG	0.597000													31	110					1.16021e-09	1.21617e-09	0.034045	1	0
RGS4	5999	broad.mit.edu	37	1	163044271	163044271	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:163044271C>G	ENST00000421743.2	+	6	990	c.830C>G	c.(829-831)cCg>cGg	p.P277R	RGS4_ENST00000531057.1_Intron|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000527809.1_Missense_Mutation_p.P162R|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000367906.3_Missense_Mutation_p.P162R|RGS4_ENST00000367909.6_Missense_Mutation_p.P180R	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	180					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.P180Q(1)|p.P277Q(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGGTCAACCCGTCCAGCTGT	0.517000													56	436					0	0	0.048971	0	0
QRSL1	55278	broad.mit.edu	37	6	107100544	107100544	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:107100544A>C	ENST00000369044.1	+	7	1004	c.936A>C	c.(934-936)gaA>gaC	p.E312D	QRSL1_ENST00000369046.4_Intron			Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	0					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		gtgggtttgaatctctgctct	0.363000													13	2					0	0	0.093190	0	0
LILRB2	10288	broad.mit.edu	37	19	54782754	54782754	+	Missense_Mutation	SNP	A	A	G	rs143661416	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:54782754A>G	ENST00000391748.1	-	6	995	c.868T>C	c.(868-870)Tac>Cac	p.Y290H	LILRB2_ENST00000314446.5_Missense_Mutation_p.Y290H|LILRB2_ENST00000391746.1_Missense_Mutation_p.Y290H|LILRB2_ENST00000434421.1_Missense_Mutation_p.Y174H|LILRB2_ENST00000391749.4_Missense_Mutation_p.Y290H	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	290	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.Y290H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCCCCGTAGGAGCGGCTC	0.667000													13	52					0	0	0.033300	0	0
SSTR4	6754	broad.mit.edu	37	20	23017255	23017255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:23017255C>T	ENST00000255008.3	+	1	1199	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	379					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGGCCGCAAGCGCATCCCCCT	0.657000													17	60					0	0	0.049695	0	0
BRWD1	54014	broad.mit.edu	37	21	40636481	40636481	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636481C>A	ENST00000342449.3	-	17	1868	c.1790G>T	c.(1789-1791)gGa>gTa	p.G597V	BRWD1_ENST00000333229.2_Missense_Mutation_p.G597V|BRWD1_ENST00000380800.3_Missense_Mutation_p.G597V	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATGAGGATTTCCATCTACATC	0.413000													11	170					7.41877e-09	7.70229e-09	0.062417	1	0
ADAM2	2515	broad.mit.edu	37	8	39607251	39607251	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:39607251G>C	ENST00000265708.4	-	17	1913	c.1810C>G	c.(1810-1812)Caa>Gaa	p.Q604E	ADAM2_ENST00000379853.2_Missense_Mutation_p.Q448E|ADAM2_ENST00000521880.1_Missense_Mutation_p.Q541E|ADAM2_ENST00000347580.4_Missense_Mutation_p.Q585E	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	604	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ACACATCTTTGATTCCTGCAA	0.343000													38	94					0	0	0.098360	0	0
LEPR	3953	broad.mit.edu	37	1	66064359	66064359	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:66064359C>T	ENST00000349533.6	+	8	1051	c.866C>T	c.(865-867)tCa>tTa	p.S289L	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.S289L|LEPR_ENST00000371058.1_Missense_Mutation_p.S289L|LEPR_ENST00000344610.8_Missense_Mutation_p.S289L|LEPR_ENST00000371059.3_Missense_Mutation_p.S289L	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	289	Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAGATTGTCTCAGCTACATCC	0.423000													16	89					0	0	0.055883	0	0
FAM179B	23116	broad.mit.edu	37	14	45432544	45432544	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:45432544A>G	ENST00000361462.2	+	1	1103	c.920A>G	c.(919-921)tAc>tGc	p.Y307C	FAM179B_ENST00000361577.3_Missense_Mutation_p.Y307C|FAM179B_ENST00000382233.2_Missense_Mutation_p.Y307C			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	307							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGGAGACACTACAATCGCCGC	0.502000													33	64					0	0	0.069456	0	0
BRCA2	675	broad.mit.edu	37	13	32929379	32929379	+	Silent	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr13:32929379T>C	ENST00000544455.1	+	14	7616	c.7389T>C	c.(7387-7389)aaT>aaC	p.N2463N	BRCA2_ENST00000380152.3_Silent_p.N2463N	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2463	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACAACTCCAATCAAGCAGTAG	0.323000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			20	37					0	0	0.049695	0	0
TRIM36	55521	broad.mit.edu	37	5	114466549	114466549	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:114466549A>G	ENST00000513154.1	-	9	1862	c.1536T>C	c.(1534-1536)aaT>aaC	p.N512N	TRIM36_ENST00000282369.3_Silent_p.N524N|TRIM36_ENST00000514154.1_Silent_p.N369N			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	524	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GGTGTTCATTATTATAGCCAC	0.368000													31	59					0	0	0.045705	0	0
ATP13A2	23400	broad.mit.edu	37	1	17313397	17313397	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:17313397C>G	ENST00000452699.1	-	27	3312	c.3123G>C	c.(3121-3123)gaG>gaC	p.E1041D	ATP13A2_ENST00000341676.5_Missense_Mutation_p.E1002D|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.E1046D	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	1046					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCACGGTGTTCTCGTAGTTGG	0.627000													7	27					0	0	0.038147	0	0
CPS1	1373	broad.mit.edu	37	2	211525295	211525295	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:211525295G>A	ENST00000233072.5	+	32	4039	c.3843G>A	c.(3841-3843)aaG>aaA	p.K1281K	CPS1_ENST00000430249.2_Silent_p.K1287K|CPS1_ENST00000451903.2_Silent_p.K830K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1281	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGGCCACCAAGGTGATGATTG	0.403000													87	221					0	0	0.048971	0	0
ABR	29	broad.mit.edu	37	17	1003885	1003885	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:1003885G>A	ENST00000544583.2	-	3	798	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	ABR_ENST00000291107.2_Silent_p.L76L|ABR_ENST00000574437.1_Silent_p.L67L|ABR_ENST00000302538.5_Silent_p.L113L	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	113				R -> G (in Ref. 2; AAC37518).	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACCAGCAACAGGGCTTCCAGC	0.572000													29	20					0	0	0.030593	0	0
OR1C1	26188	broad.mit.edu	37	1	247921243	247921243	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:247921243C>A	ENST00000408896.2	-	1	739	c.466G>T	c.(466-468)Gcc>Tcc	p.A156S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGCAGGAGGGCGTGGAGGTAA	0.498000													41	7					1.49673e-21	1.64288e-21	0.086207	1	0
SLC19A1	6573	broad.mit.edu	37	21	46945798	46945798	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:46945798A>G	ENST00000311124.4	-	5	1378	c.1226T>C	c.(1225-1227)aTc>aCc	p.I409T	SLC19A1_ENST00000567670.1_Missense_Mutation_p.I409T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.I369T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.I409T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	409					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GGTCTTGACGATGGTGGCAAA	0.577000													25	82					0	0	0.030593	0	0
MSS51	118490	broad.mit.edu	37	10	75184443	75184443	+	Silent	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:75184443G>C	ENST00000299432.2	-	7	1316	c.1251C>G	c.(1249-1251)ctC>ctG	p.L417L	MSS51_ENST00000372912.1_Silent_p.L417L	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN	MSS51 mitochondrial translational activator	417			L -> P (in dbSNP:rs11591720).				zinc ion binding										GTTCAGGTTTGAGGGACATGA	0.463000													51	72					0	0	0.048971	0	0
IFT74	80173	broad.mit.edu	37	9	26984496	26984496	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:26984496G>A	ENST00000443698.1	+	6	575		c.e6-1		IFT74_ENST00000380062.5_Splice_Site|IFT74_ENST00000433700.1_Splice_Site|IFT74_ENST00000429045.2_Splice_Site	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TATGCTTTCAGGGCTGAGACT	0.269000													70	143					0	0	0.048971	0	0
SBF2	81846	broad.mit.edu	37	11	10022532	10022532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:10022532C>A	ENST00000256190.8	-	8	927	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	264	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTTAGAACTTCCAGTAGCTGA	0.323000													13	29					2.61681e-11	2.77877e-11	0.020292	1	0
CDH23	64072	broad.mit.edu	37	10	73494069	73494069	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:73494069G>A	ENST00000224721.6	+	32	4197	c.4192G>A	c.(4192-4194)Gac>Aac	p.D1398N	C10orf105_ENST00000398786.2_Intron	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1393	Cadherin 13.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGTGGCAGATGACGGCGGCCC	0.622000													3	8					0	0	0.004672	0	0
HSPG2	3339	broad.mit.edu	37	1	22176612	22176612	+	Silent	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:22176612C>G	ENST00000374695.3	-	57	7447	c.7368G>C	c.(7366-7368)ctG>ctC	p.L2456L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2456	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGAGGCAGTTCAGGTCCAGGG	0.662000													38	86					0	0	0.086207	0	0
DCAF6	55827	broad.mit.edu	37	1	168007717	168007717	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:168007717C>T	ENST00000367840.3	+	13	1812	c.1718C>T	c.(1717-1719)aCa>aTa	p.T573I	DCAF6_ENST00000432587.2_Missense_Mutation_p.T542I|DCAF6_ENST00000367843.3_Missense_Mutation_p.T516I|DCAF6_ENST00000312263.6_Missense_Mutation_p.T496I	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	535					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTGAACTTTACAGATGAATGG	0.333000													30	142					0	0	0.045705	0	0
PTPRD	5789	broad.mit.edu	37	9	8518200	8518200	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:8518200A>T	ENST00000381196.4	-	18	1734	c.1191T>A	c.(1189-1191)aaT>aaA	p.N397K	PTPRD_ENST00000355233.5_Missense_Mutation_p.N397K|PTPRD_ENST00000486161.1_Missense_Mutation_p.N397K|PTPRD_ENST00000540109.1_Missense_Mutation_p.N397K|PTPRD_ENST00000356435.5_Missense_Mutation_p.N397K|PTPRD_ENST00000397606.3_Missense_Mutation_p.N387K|PTPRD_ENST00000397611.3_Missense_Mutation_p.N394K|PTPRD_ENST00000537002.1_Missense_Mutation_p.N394K|PTPRD_ENST00000360074.4_Missense_Mutation_p.N384K|PTPRD_ENST00000358503.5_Missense_Mutation_p.N384K|PTPRD_ENST00000397617.3_Missense_Mutation_p.N387K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	397	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCCCAATGTTATTGACAGCAA	0.522000										TSP Lung(15;0.13)			57	186					0	0	0.048971	0	0
KIF14	9928	broad.mit.edu	37	1	200587160	200587160	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:200587160C>G	ENST00000367350.4	-	2	1130	c.692G>C	c.(691-693)aGa>aCa	p.R231T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	231	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTGTCCTGATCTAACAACTTC	0.408000													379	65					0	0	0.048971	0	0
VTCN1	79679	broad.mit.edu	37	1	117699368	117699368	+	Silent	SNP	C	C	A	rs115383914	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:117699368C>A	ENST00000369458.3	-	3	351	c.273G>T	c.(271-273)tcG>tcT	p.S91S	VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000359008.4_Silent_p.S94S|VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	91	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CATCCTGCTCCGACAGCTCAT	0.458000													32	94					3.99451e-17	4.29772e-17	0.041601	1	0
FAP	2191	broad.mit.edu	37	2	163075644	163075644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:163075644G>A	ENST00000188790.4	-	8	743	c.536C>T	c.(535-537)cCa>cTa	p.P179L	FAP_ENST00000443424.1_Missense_Mutation_p.P154L	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	179					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTGAAAAGGTGGATCTCCTGG	0.328000													84	90					0	0	0.048971	0	0
PSG7	5676	broad.mit.edu	37	19	43439844	43439844	+	RNA	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:43439844C>G	ENST00000406070.2	-	0	238				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				ACATCCTTCCCCTCGGAAACT	0.488000													41	294					0	0	0.048971	0	0
ZHX1	11244	broad.mit.edu	37	8	124267128	124267128	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:124267128C>T	ENST00000395571.3	-	3	1676	c.1059G>A	c.(1057-1059)agG>agA	p.R353R	ZHX1_ENST00000297857.2_Silent_p.R353R|ZHX1_ENST00000522655.1_Silent_p.R353R|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	353	Required for dimerization.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAATTGTTTCCTTCTTGCCT	0.398000													284	240					0	0	0.048971	0	0
P2RX6	9127	broad.mit.edu	37	22	21377871	21377871	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr22:21377871A>G	ENST00000413302.2	+	8	1002	c.854A>G	c.(853-855)tAc>tGc	p.Y285C	P2RX6_ENST00000401443.1_Missense_Mutation_p.Y259C|P2RX6_ENST00000443995.3_Missense_Mutation_p.Y232C|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Missense_Mutation_p.Y275C			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	285					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										TGGCCTCACTACTCCTTCCAG	0.607000													8	21					0	0	0.047766	0	0
TAS2R50	259296	broad.mit.edu	37	12	11138589	11138589	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:11138589G>C	ENST00000506868.1	-	1	922	c.871C>G	c.(871-873)Ctt>Gtt	p.L291V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	291					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.L291F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						AAAATCAAAAGAAAGGTGTGT	0.398000													42	126					0	0	0.111260	0	0
ENTPD3	956	broad.mit.edu	37	3	40464569	40464569	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:40464569T>A	ENST00000301825.3	+	8	1178	c.1060T>A	c.(1060-1062)Tct>Act	p.S354T	ENTPD3_ENST00000445129.1_Missense_Mutation_p.S354T|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.S354T	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	354						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AGAAACCTGTTCTTTTGATGG	0.408000													82	105					0	0	0.048971	0	0
CD1C	911	broad.mit.edu	37	1	158263070	158263070	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:158263070G>T	ENST00000368170.3	+	5	1237	c.958G>T	c.(958-960)Gtg>Ttg	p.V320L		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	320					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AATAGTCCTTGTGTTATGGTT	0.393000													81	809					1.69816e-31	1.9024e-31	0.048971	1	0
LRP1B	53353	broad.mit.edu	37	2	141245258	141245258	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:141245258G>C	ENST00000389484.3	-	58	10142	c.9171C>G	c.(9169-9171)atC>atG	p.I3057M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3057					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGATCCAATAGATGAATTCTT	0.308000										TSP Lung(27;0.18)			38	80					0	0	0.074837	0	0
ZNF197	10168	broad.mit.edu	37	3	44674010	44674010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:44674010G>A	ENST00000396058.1	+	4	855	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	ZNF197_ENST00000383744.4_Missense_Mutation_p.E230K|ZNF197_ENST00000344387.4_Missense_Mutation_p.E230K|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Missense_Mutation_p.E230K			O14709	ZN197_HUMAN	zinc finger protein 197	230	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CACTTCAGAGGAATGGGCATG	0.473000													12	368					0	0	0.105934	0	0
INSIG1	3638	broad.mit.edu	37	7	155093959	155093959	+	Splice_Site	SNP	A	A	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:155093959A>C	ENST00000340368.4	+	4	748		c.e4-1		INSIG1_ENST00000344756.4_Splice_Site|INSIG1_ENST00000342407.5_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1						cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTATATCACCAGAAATTGGAT	0.378000													58	87					0	0	0.048971	0	0
GLDC	2731	broad.mit.edu	37	9	6589258	6589258	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:6589258C>G	ENST00000321612.6	-	12	1667	c.1517G>C	c.(1516-1518)aGa>aCa	p.R506T		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	506					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGGAATACCTCTGCACTCCTC	0.517000													40	40					0	0	0.098360	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819136	50819136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:50819136C>T	ENST00000374115.3	+	1	790	c.350C>T	c.(349-351)aCg>aTg	p.T117M	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	117					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.T117M(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CGCTACCCTACGGAGAGCGAA	0.657000													25	47					0	0	0.030593	0	0
TLN1	7094	broad.mit.edu	37	9	35697854	35697854	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:35697854C>T	ENST00000314888.9	-	57	7913	c.7560G>A	c.(7558-7560)aaG>aaA	p.K2520K	TLN1_ENST00000540444.1_Silent_p.K2408K	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2520	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGCCAGTTTCTTCCGCGCCT	0.532000											OREG0019174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	64					0	0	0.105934	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612062	44612062	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:44612062G>C	ENST00000273320.3	+	6	1889	c.1460G>C	c.(1459-1461)aGa>aCa	p.R487T	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R487T|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		GACCACCAGAGAACCCATACT	0.458000													40	164					0	0	0.111260	0	0
PLOD2	5352	broad.mit.edu	37	3	145806415	145806415	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:145806415C>T	ENST00000282903.5	-	9	1140	c.963G>A	c.(961-963)ctG>ctA	p.L321L	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Silent_p.L266L|PLOD2_ENST00000360060.3_Silent_p.L321L	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	321					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTGGGTAATCCAGTGTCAACA	0.323000													27	56					0	0	0.030593	0	0
ADCK5	203054	broad.mit.edu	37	8	145608287	145608287	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:145608287C>G	ENST00000308860.6	+	3	166	c.122C>G	c.(121-123)tCc>tGc	p.S41C	ADCK5_ENST00000532190.1_Missense_Mutation_p.S41C|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	41						integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCAGGTTCTCCAGCCCCACA	0.672000													2	2					0	0	0.009096	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55263182	55263182	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:55263182A>T	ENST00000342376.3	+	6	828	c.797A>T	c.(796-798)cAt>cTt	p.H266L	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		tttctccttcATCGCTGGTGC	0.527000													62	115					0	0	0.048971	0	0
COPZ2	51226	broad.mit.edu	37	17	46111232	46111232	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:46111232C>G	ENST00000006101.4	-	4	258	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	89					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						CACTTACTCTCAGTCCGGCTG	0.483000													6	24					0	0	0.021553	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151205031	151205031	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:151205031C>T	ENST00000409426.1	+	6	900	c.455C>T	c.(454-456)tCc>tTc	p.S152F	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.S152F|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.S151F|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.S164F			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	164	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCCAGTATTCCCTCTGCAGT	0.423000													13	61					0	0	0.076483	0	0
UNC5D	137970	broad.mit.edu	37	8	35584024	35584024	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:35584024G>T	ENST00000287272.2	+	9	1471	c.1451G>T	c.(1450-1452)gGg>gTg	p.G484V	UNC5D_ENST00000453357.2_Missense_Mutation_p.G548V|UNC5D_ENST00000404895.2_Missense_Mutation_p.G553V|UNC5D_ENST00000449677.1_Missense_Mutation_p.G129V|UNC5D_ENST00000420357.1_Missense_Mutation_p.G486V|UNC5D_ENST00000416672.1_Missense_Mutation_p.G558V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	553					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATTTAGGGGGGCGCTTAGTA	0.413000													41	42					6.4771e-29	7.23128e-29	0.039052	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72511899	72511899	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:72511899T>G	ENST00000373208.1	+	18	2654	c.2654T>G	c.(2653-2655)aTg>aGg	p.M885R	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.M882R	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	882	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GACCACCACATGGTGCAGCGA	0.657000													6	15					0	0	0.029380	0	0
PCSK5	5125	broad.mit.edu	37	9	78784732	78784732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:78784732C>T	ENST00000545128.1	+	13	2270	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*	PCSK5_ENST00000376767.3_Nonsense_Mutation_p.Q578*|PCSK5_ENST00000376752.4_Nonsense_Mutation_p.Q578*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	578	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TACTCCCTCTCAGCTAAGGAA	0.428000													51	89					0	0	0.048971	0	0
TRIM27	5987	broad.mit.edu	37	6	28889686	28889686	+	Missense_Mutation	SNP	C	C	T	rs112674133		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:28889686C>T	ENST00000377199.3	-	2	855	c.499G>A	c.(499-501)Gca>Aca	p.A167T	TRIM27_ENST00000377194.3_Missense_Mutation_p.A167T|TRIM27_ENST00000498117.1_5'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	167					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCAGCTCGTGCCTGTTCCCCC	0.468000			T	RET	papillary thyroid								35	166					0	0	0.080422	0	0
CREBBP	1387	broad.mit.edu	37	16	3828045	3828045	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:3828045C>G	ENST00000262367.5	-	10	2889	c.2080G>C	c.(2080-2082)Gtg>Ctg	p.V694L	CREBBP_ENST00000382070.3_Missense_Mutation_p.V656L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	694					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGTGGAATCACAGGGGGCTGA	0.502000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						31	148					0	0	0.050027	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540922	133540922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:133540922C>G	ENST00000409261.1	-	14	3835	c.3462G>C	c.(3460-3462)atG>atC	p.M1154I	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.M1154I|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1154							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGGGAGACTTCATGAGCACTT	0.488000													34	102					0	0	0.054565	0	0
C3orf70	285382	broad.mit.edu	37	3	184870502	184870502	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:184870502G>T	ENST00000335012.2	-	1	300	c.110C>A	c.(109-111)cCg>cAg	p.P37Q		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	37										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CCCGTCGCACGGCTGGAAGTC	0.652000													7	22					0.0381472	0.0383827	0.038147	1	0
ZNF236	7776	broad.mit.edu	37	18	74606980	74606980	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:74606980G>A	ENST00000253159.8	+	10	1621	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E477K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	475					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCCATCCGCGAGGAGAACGG	0.657000													36	68					0	0	0.042209	0	0
HORMAD1	84072	broad.mit.edu	37	1	150675844	150675844	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:150675844G>T	ENST00000368993.2	-	13	1079	c.974C>A	c.(973-975)tCt>tAt	p.S325Y	HORMAD1_ENST00000322343.7_Missense_Mutation_p.S318Y|HORMAD1_ENST00000368995.4_Missense_Mutation_p.S245Y|HORMAD1_ENST00000361824.2_Missense_Mutation_p.S325Y			Q86X24	HORM1_HUMAN	HORMA domain containing 1	325					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATCAAGTTCAGATGTTTTATT	0.274000													7	45					3.09899e-07	3.19705e-07	0.047766	1	0
PPM1B	5495	broad.mit.edu	37	2	44429053	44429053	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:44429053A>G	ENST00000378551.2	+	2	1127	c.715A>G	c.(715-717)Atc>Gtc	p.I239V	PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Missense_Mutation_p.I239V|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.I239V|PPM1B_ENST00000282412.4_Missense_Mutation_p.I239V	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	239					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGAATTTATCATCTTGGCTTG	0.408000													38	61					0	0	0.098360	0	0
MCF2	4168	broad.mit.edu	37	X	138672035	138672035	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:138672035C>G	ENST00000520602.1	-	23	2794	c.2509G>C	c.(2509-2511)Gaa>Caa	p.E837Q	MCF2_ENST00000370576.4_Missense_Mutation_p.E777Q|MCF2_ENST00000414978.1_Missense_Mutation_p.E837Q|MCF2_ENST00000519895.1_Missense_Mutation_p.E853Q|MCF2_ENST00000370573.4_Missense_Mutation_p.E777Q|MCF2_ENST00000370578.4_Missense_Mutation_p.E922Q|MCF2_ENST00000338585.6_Missense_Mutation_p.E793Q|MCF2_ENST00000536274.1_Missense_Mutation_p.E738Q			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	777					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TACCAGATTTCAAACTTGCGG	0.318000													26	50					0	0	0.091800	0	0
LGSN	51557	broad.mit.edu	37	6	63990752	63990752	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:63990752T>C	ENST00000370657.4	-	4	737	c.704A>G	c.(703-705)cAt>cGt	p.H235R	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	235					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GGGCTGATCATGGTTATTTAA	0.388000													62	62					0	0	0.048971	0	0
C7orf43	55262	broad.mit.edu	37	7	99753312	99753312	+	Silent	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:99753312C>G	ENST00000316937.3	-	9	1562	c.1377G>C	c.(1375-1377)ctG>ctC	p.L459L	C7orf43_ENST00000394035.2_Silent_p.L35L|C7orf43_ENST00000419841.1_Silent_p.L227L|C7orf43_ENST00000457641.1_Silent_p.L190L	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	459										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCCGTCCTCAGAGCCTGGA	0.637000													77	116					0	0	0.048971	0	0
INPP5F	22876	broad.mit.edu	37	10	121580377	121580377	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:121580377A>G	ENST00000361976.2	+	16	2072	c.1906A>G	c.(1906-1908)Aga>Gga	p.R636G	INPP5F_ENST00000369080.3_Missense_Mutation_p.R26G|INPP5F_ENST00000490818.1_3'UTR	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	636							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TGCTACTCACAGAGACGTGGA	0.363000													44	87					0	0	0.048971	0	0
ABCC3	8714	broad.mit.edu	37	17	48761367	48761367	+	Missense_Mutation	SNP	C	C	A	rs141762939		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:48761367C>A	ENST00000285238.8	+	28	4092	c.4012C>A	c.(4012-4014)Cgc>Agc	p.R1338S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1338	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTGCCTGTTCCGCATCCTGGA	0.622000													42	18					9.84934e-19	1.07029e-18	0.039052	1	0
EVC	2121	broad.mit.edu	37	4	5733227	5733227	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:5733227G>C	ENST00000382674.2	+	4	644	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	EVC_ENST00000509451.1_Missense_Mutation_p.E154Q|EVC_ENST00000264956.6_Missense_Mutation_p.E154Q			P57679	EVC_HUMAN	Ellis van Creveld syndrome	154					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCAGCCGGTAGAGGCCTCTCC	0.602000													19	27					0	0	0.064281	0	0
BRWD1	54014	broad.mit.edu	37	21	40636822	40636822	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636822C>T	ENST00000342449.3	-	16	1732	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	BRWD1_ENST00000333229.2_Missense_Mutation_p.E552K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E552K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATGACCTTTTCATATGGTTTG	0.358000													10	118					0	0	0.080935	0	0
BMS1	9790	broad.mit.edu	37	10	43292463	43292463	+	Missense_Mutation	SNP	G	G	A	rs145513181		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:43292463G>A	ENST00000374518.5	+	10	1834	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTTGCATCTGAAGATGAATC	0.448000													23	82					0	0	0.091800	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559901	140559901	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:140559901G>A	ENST00000239444.2	+	1	2531	c.2286G>A	c.(2284-2286)acG>acA	p.T762T		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		762					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCAGGGACGAATGAGTTCC	0.517000													30	59					0	0	0.037714	0	0
MYO3A	53904	broad.mit.edu	37	10	26377316	26377316	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:26377316G>T	ENST00000265944.5	+	15	1710	c.1544G>T	c.(1543-1545)cGa>cTa	p.R515L	MYO3A_ENST00000543632.1_Missense_Mutation_p.R515L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	515	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAAAATCCCGAGTTATCCAC	0.358000													73	47					8.83742e-36	9.96885e-36	0.048971	1	0
COL19A1	1310	broad.mit.edu	37	6	70778319	70778319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:70778319C>T	ENST00000322773.4	+	15	1277	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	COL19A1_ENST00000393344.1_Missense_Mutation_p.S14F	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	392	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCATAGGGTTCCCTGGGGATA	0.408000													20	143					0	0	0.069288	0	0
FLG	2312	broad.mit.edu	37	1	152282887	152282887	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:152282887T>C	ENST00000368799.1	-	3	4510	c.4475A>G	c.(4474-4476)cAc>cGc	p.H1492R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1492	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)			TGACCCCGGGTGTCCACGAAT	0.587000									Ichthyosis				127	776					0	0	0.048971	0	0
PVRL1	5818	broad.mit.edu	37	11	119535753	119535753	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:119535753C>A	ENST00000264025.3	-	6	1788	c.1258G>T	c.(1258-1260)Gac>Tac	p.D420Y	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	420					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TCTGAGTCGTCGGGGTACTGC	0.632000													26	50					1.5548e-18	1.68394e-18	0.108266	1	0
CHD7	55636	broad.mit.edu	37	8	61765060	61765060	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:61765060G>C	ENST00000423902.2	+	30	6377	c.5898G>C	c.(5896-5898)tgG>tgC	p.W1966C	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1966					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTAACAGGTGGACAAGAAGAG	0.383000													11	33					0	0	0.069234	0	0
RASL10A	10633	broad.mit.edu	37	22	29709953	29709953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr22:29709953C>G	ENST00000401450.3	-	2	688	c.243G>C	c.(241-243)tgG>tgC	p.W81C	RASL10A_ENST00000608559.1_5'UTR|RASL10A_ENST00000216101.6_Missense_Mutation_p.W81C			Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	81	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)	1						CCTGCAAGCTCCAGTCCTTAG	0.637000													22	41					0	0	0.030593	0	0
TRPC6	7225	broad.mit.edu	37	11	101374954	101374954	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:101374954T>C	ENST00000344327.3	-	2	1170	c.746A>G	c.(745-747)cAt>cGt	p.H249R	TRPC6_ENST00000348423.4_Missense_Mutation_p.H249R|TRPC6_ENST00000532133.1_Missense_Mutation_p.H249R|TRPC6_ENST00000360497.4_Missense_Mutation_p.H249R	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	249					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAAATAATCATGAGGCCGTTC	0.473000													16	120					0	0	0.024245	0	0
ADCY2	108	broad.mit.edu	37	5	7521004	7521004	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:7521004G>T	ENST00000338316.4	+	3	651	c.562G>T	c.(562-564)Gtc>Ttc	p.V188F		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	188				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGAGCACCTGGTCTGGCAGGT	0.607000													49	75					2.74695e-27	3.05634e-27	0.048971	1	0
OR4C11	219429	broad.mit.edu	37	11	55371622	55371622	+	Silent	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:55371622G>T	ENST00000302231.4	-	1	252	c.228C>A	c.(226-228)gcC>gcA	p.A76A		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTAATCTAGGGGCTGTGGAAG	0.398000													68	67					1.05635e-38	1.19573e-38	0.048971	1	0
ABR	29	broad.mit.edu	37	17	1003907	1003907	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:1003907G>A	ENST00000544583.2	-	3	776	c.177C>T	c.(175-177)atC>atT	p.I59I	ABR_ENST00000291107.2_Silent_p.I68I|ABR_ENST00000574437.1_Silent_p.I59I|ABR_ENST00000302538.5_Silent_p.I105I	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	105					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGTTAATGTAGATCTCTTCGC	0.582000													45	22					0	0	0.039052	0	0
NKTR	4820	broad.mit.edu	37	3	42678913	42678913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:42678913C>T	ENST00000232978.8	+	13	1905	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	573	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AACAGCTTCTCAGTTAAGTGA	0.378000													53	184					0	0	0.048971	0	0
RAD21	5885	broad.mit.edu	37	8	117859890	117859890	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:117859890A>G	ENST00000297338.2	-	14	2032	c.1745T>C	c.(1744-1746)cTt>cCt	p.L582P	RAD21_ENST00000518055.1_Missense_Mutation_p.L127P|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron|RAD21_ENST00000523986.1_Missense_Mutation_p.L86P|RAD21_ENST00000517749.1_Missense_Mutation_p.L20P	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	582					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ACATAACTCAAGCAAACTGAT	0.378000													23	101					0	0	0.069288	0	0
UTRN	7402	broad.mit.edu	37	6	144820449	144820449	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:144820449G>A	ENST00000367545.3	+	33	4650	c.4650G>A	c.(4648-4650)aaG>aaA	p.K1550K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1550	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAAAATGAAGAAAGAGGCTG	0.478000													14	60					0	0	0.020292	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601779	13601779	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:13601779C>G	ENST00000040738.5	-	10	6880	c.6745G>C	c.(6745-6747)Gaa>Caa	p.E2249Q		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2249							DNA binding										CCGTCTTTTTCTTCCATGACT	0.517000													22	6					0	0	0.069288	0	0
RGS18	64407	broad.mit.edu	37	1	192127775	192127775	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:192127775C>T	ENST00000367460.3	+	1	189	c.8C>T	c.(7-9)aCa>aTa	p.T3I	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	3					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGATGGAAACAACATTGCTT	0.264000													16	45					0	0	0.024245	0	0
PVRL2	5819	broad.mit.edu	37	19	45375390	45375390	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:45375390G>A	ENST00000252483.5	+	3	759	c.759G>A	c.(757-759)gtG>gtA	p.V253V	PVRL2_ENST00000252485.4_Silent_p.V253V	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	253	Ig-like C2-type 1.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGATACCTGTGACCCTCTCTG	0.567000													17	93					0	0	0.033300	0	0
CLOCK	9575	broad.mit.edu	37	4	56336930	56336930	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:56336930A>G	ENST00000309964.4	-	7	642	c.392T>C	c.(391-393)aTa>aCa	p.I131T	CLOCK_ENST00000381322.1_Missense_Mutation_p.I131T|CLOCK_ENST00000513440.1_Missense_Mutation_p.I131T	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	131	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CACATATATTATGCTTCCATC	0.284000													52	151					0	0	0.048971	0	0
NCSTN	23385	broad.mit.edu	37	1	160326942	160326942	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:160326942G>C	ENST00000368063.1	+	17	2126	c.1846G>C	c.(1846-1848)Gaa>Caa	p.E616Q	NCSTN_ENST00000294785.5_Missense_Mutation_p.E636Q|NCSTN_ENST00000392212.4_Missense_Mutation_p.E616Q|NCSTN_ENST00000368065.4_Missense_Mutation_p.E378Q|NCSTN_ENST00000535857.1_Missense_Mutation_p.E498Q			Q92542	NICA_HUMAN	nicastrin	636					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCTGCCTTTGAACTGAGTCA	0.537000													32	375					0	0	0.059317	0	0
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A	rs137852790		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:7578475G>A	ENST00000420246.2	-	5	587	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000413465.2_Missense_Mutation_p.P152L|TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000269305.4_Missense_Mutation_p.P152L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(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)		GGTGCCGGGCGGGGGTGTGGA	0.612000		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)			35	5					0	0	0.086207	0	0
SCAPER	49855	broad.mit.edu	37	15	76726455	76726455	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:76726455C>T	ENST00000538941.2	-	26	3476	c.2537G>A	c.(2536-2538)gGt>gAt	p.G846D	SCAPER_ENST00000324767.7_Missense_Mutation_p.G1092D|SCAPER_ENST00000563290.1_Missense_Mutation_p.G1092D	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1091						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AAAAGGATCACCTTGTGAGGG	0.373000													18	39					0	0	0.033300	0	0
CCDC50	152137	broad.mit.edu	37	3	191047481	191047481	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:191047481C>G	ENST00000392455.3	+	1	616	c.18C>G	c.(16-18)atC>atG	p.I6M	CCDC50_ENST00000392456.3_Missense_Mutation_p.I6M|UTS2B_ENST00000340524.5_Intron	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	6						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AAGTCAGCATCGACCAGTCCA	0.701000													4	4					0	0	0.021553	0	0
BRWD1	54014	broad.mit.edu	37	21	40636873	40636873	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636873C>G	ENST00000342449.3	-	16	1681	c.1603G>C	c.(1603-1605)Gat>Cat	p.D535H	BRWD1_ENST00000333229.2_Missense_Mutation_p.D535H|BRWD1_ENST00000380800.3_Missense_Mutation_p.D535H	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCATGAGAATCTGTACAGGCA	0.373000											OREG0003860	type=REGULATORY REGION|Gene=AK125906|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	144					0	0	0.105934	0	0
RACGAP1	29127	broad.mit.edu	37	12	50384549	50384549	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:50384549G>A	ENST00000434422.1	-	17	2042	c.1741C>T	c.(1741-1743)Cct>Tct	p.P581S	RACGAP1_ENST00000547905.1_Missense_Mutation_p.P581S|RACGAP1_ENST00000454520.2_Missense_Mutation_p.P581S|RACGAP1_ENST00000312377.5_Missense_Mutation_p.P581S|RACGAP1_ENST00000427314.2_Missense_Mutation_p.P581S|RACGAP1_ENST00000551016.1_Missense_Mutation_p.P581S|RACGAP1_ENST00000548961.1_Intron			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	581					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGATGTTCAGGAGTGGTCACA	0.438000													28	87					0	0	0.037714	0	0
TTN	7273	broad.mit.edu	37	2	179462655	179462655	+	Missense_Mutation	SNP	A	A	G	rs78509062		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:179462655A>G	ENST00000589042.1	-	293	57466	c.57242T>C	c.(57241-57243)aTt>aCt	p.I19081T	TTN_ENST00000359218.5_Missense_Mutation_p.I10141T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I16513T|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I10016T|TTN_ENST00000342175.6_Missense_Mutation_p.I10208T|TTN_ENST00000591111.1_Missense_Mutation_p.I17440T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17440	Fibronectin type-III 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCATTTCAATGACATCTGT	0.368000													50	92					0	0	0.048971	0	0
TDRD3	81550	broad.mit.edu	37	13	61057916	61057916	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr13:61057916C>G	ENST00000196169.3	+	6	1012	c.224C>G	c.(223-225)tCa>tGa	p.S75*	TDRD3_ENST00000535286.1_Nonsense_Mutation_p.S168*|TDRD3_ENST00000377881.2_Nonsense_Mutation_p.S75*|TDRD3_ENST00000377894.2_Nonsense_Mutation_p.S75*	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	75					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CAGAGCTTATCAAAACACAAT	0.348000													46	128					0	0	0.048971	0	0
LRIT3	345193	broad.mit.edu	37	4	110788968	110788968	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:110788968C>T	ENST00000327908.3	+	3	976	c.212C>T	c.(211-213)cCa>cTa	p.P71L	LRIT3_ENST00000379920.3_Missense_Mutation_p.P209L|LRIT3_ENST00000594814.1_Missense_Mutation_p.P254L|LRIT3_ENST00000409621.2_Missense_Mutation_p.P71L			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	209						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGTCTGAAACCATCAGTGATG	0.512000													37	43					0	0	0.064281	0	0
CIITA	4261	broad.mit.edu	37	16	10971204	10971204	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:10971204C>T	ENST00000324288.8	+	1	150	c.17C>T	c.(16-18)cCa>cTa	p.P6L	RP11-876N24.2_ENST00000573071.1_RNA|CIITA_ENST00000381835.5_Missense_Mutation_p.P6L|RP11-876N24.2_ENST00000572017.1_RNA|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	6					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGCCTGGCTCCACGCCCTGCT	0.597000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								7	6					0	0	0.029380	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372097	34372097	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:34372097C>T	ENST00000297625.7	-	2	968	c.743G>A	c.(742-744)cGa>cAa	p.R248Q		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	282					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CACGCACACTCGGTAGCTCAG	0.662000													7	35					0	0	0.038147	0	0
ARID1A	8289	broad.mit.edu	37	1	27058057	27058057	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:27058057C>T	ENST00000324856.7	+	3	2136	c.1765C>T	c.(1765-1767)Caa>Taa	p.Q589*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q206*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q589*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	589					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGTCCCAGCAAACTGCCTA	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								81	91					0	0	0.048971	0	0
GNA13	10672	broad.mit.edu	37	17	63052540	63052540	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:63052540C>T	ENST00000439174.2	-	1	417	c.172G>A	c.(172-174)Gag>Aag	p.E58K		NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	58					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TTGCCGCTCTCGCCCGCGCCC	0.617000													34	124					0	0	0.054565	0	0
CPED1	79974	broad.mit.edu	37	7	120770316	120770316	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:120770316G>A	ENST00000310396.5	+	12	2012	c.1545G>A	c.(1543-1545)atG>atA	p.M515I	CPED1_ENST00000423795.1_Missense_Mutation_p.M295I|CPED1_ENST00000450913.2_Missense_Mutation_p.M515I	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TTCAGTTCATGAATAAAAAGA	0.358000													48	74					0	0	0.048971	0	0
ATAD2	29028	broad.mit.edu	37	8	124371525	124371525	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:124371525C>G	ENST00000287394.5	-	11	1425	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q	ATAD2_ENST00000534257.1_5'UTR|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCACCATCTCTTTTAGAGCT	0.328000													81	333					0	0	0.048971	0	0
FAM47A	158724	broad.mit.edu	37	X	34150089	34150089	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:34150089G>A	ENST00000346193.3	-	1	358	c.307C>T	c.(307-309)Cta>Tta	p.L103L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	103										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAAATAGGGCCGCTTTC	0.542000													94	14					0	0	0.048971	0	0
TJP2	9414	broad.mit.edu	37	9	71844146	71844146	+	Silent	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:71844146T>G	ENST00000377245.4	+	10	1708	c.1500T>G	c.(1498-1500)ccT>ccG	p.P500P	TJP2_ENST00000535702.1_Silent_p.P504P|TJP2_ENST00000453658.2_Silent_p.P477P|TJP2_ENST00000539225.1_Silent_p.P531P|TJP2_ENST00000348208.4_Silent_p.P500P|TJP2_ENST00000265384.7_Silent_p.P500P	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	500					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GTCCTAGTCCTGAAGATGAAG	0.423000													66	55					0	0	0.048971	0	0
ATG2B	55102	broad.mit.edu	37	14	96757944	96757944	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:96757944G>A	ENST00000359933.4	-	38	6465	c.5572C>T	c.(5572-5574)Cga>Tga	p.R1858*	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1858										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TACCCATGTCGATAGGAAAGC	0.348000													41	180					0	0	0.042209	0	0
ANXA5	308	broad.mit.edu	37	4	122590871	122590871	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:122590871C>T	ENST00000296511.5	-	12	1074	c.789G>A	c.(787-789)ggG>ggA	p.G263G	ANXA5_ENST00000515017.1_Silent_p.G163G|ANXA5_ENST00000501272.2_Silent_p.G203G	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	263					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						GATCATCTGTCCCAGCTCCCT	0.393000													26	53					0	0	0.091800	0	0
MAP4K4	9448	broad.mit.edu	37	2	102460640	102460640	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:102460640C>T	ENST00000413150.2	+	12	1155	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	MAP4K4_ENST00000456652.1_Missense_Mutation_p.S220F|MAP4K4_ENST00000425019.1_Missense_Mutation_p.S367F|MAP4K4_ENST00000347699.4_Missense_Mutation_p.S367F|MAP4K4_ENST00000324219.4_Missense_Mutation_p.S367F|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S347F|MAP4K4_ENST00000302217.5_Missense_Mutation_p.S220F|MAP4K4_ENST00000350198.4_Missense_Mutation_p.S367F	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	367					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGGAACGTTCCGAGGCTCTT	0.512000													5	28					0	0	0.014758	0	0
AMPD3	272	broad.mit.edu	37	11	10483070	10483070	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:10483070C>T	ENST00000396554.3	+	2	372	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	2					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGCTGAGATGCCGCGGCAGTT	0.552000													83	120					0	0	0.048971	0	0
PALLD	23022	broad.mit.edu	37	4	169602510	169602510	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:169602510A>C	ENST00000261509.6	+	4	1326	c.1115A>C	c.(1114-1116)gAa>gCa	p.E372A	PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.E249A|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.E372A	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	372					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCTGACAGTGAAAGTTTAGCT	0.358000									Pancreatic Cancer, Familial Clustering of				5	69					0	0	0.014758	0	0
BRWD1	54014	broad.mit.edu	37	21	40636563	40636563	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:40636563C>T	ENST00000342449.3	-	17	1786	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	BRWD1_ENST00000333229.2_Missense_Mutation_p.D570N|BRWD1_ENST00000380800.3_Missense_Mutation_p.D570N	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTATTAGAATCTCTAATAAGT	0.373000													8	83					0	0	0.080935	0	0
TRPM6	140803	broad.mit.edu	37	9	77377272	77377272	+	Missense_Mutation	SNP	G	G	A	rs144291419		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:77377272G>A	ENST00000451710.3	-	26	4552	c.4315C>T	c.(4315-4317)Cct>Tct	p.P1439S	TRPM6_ENST00000361255.3_Missense_Mutation_p.P1434S|TRPM6_ENST00000449912.2_Missense_Mutation_p.P1434S|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.P1439S|TRPM6_ENST00000360774.1_Missense_Mutation_p.P1439S|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1439					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGGGAAAGAGGGGAGCTCATT	0.463000													25	69					0	0	0.099896	0	0
MEGF8	1954	broad.mit.edu	37	19	42830399	42830399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:42830399G>A	ENST00000334370.4	+	1	639	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	MEGF8_ENST00000251268.6_Missense_Mutation_p.A2T	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCGGCGATGGCCCTGGGCAA	0.672000											OREG0025502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	12					0	0	0.093190	0	0
IFIH1	64135	broad.mit.edu	37	2	163144789	163144789	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:163144789C>G	ENST00000263642.2	-	5	1346	c.951G>C	c.(949-951)caG>caC	p.Q317H		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	317	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	p.Q317H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCAAGGCTGGCTGGGCAACTT	0.478000													33	86					0	0	0.050027	0	0
RBM39	9584	broad.mit.edu	37	20	34295071	34295071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:34295071G>C	ENST00000361162.6	-	14	1644	c.1260C>G	c.(1258-1260)ttC>ttG	p.F420L	RBM39_ENST00000253363.6_Missense_Mutation_p.F426L|RBM39_ENST00000407261.4_Missense_Mutation_p.F269L|RBM39_ENST00000528062.3_Missense_Mutation_p.F404L	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	426	Interaction with NCOA6 (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TAGAGAGTTGGAAACATTGTG	0.343000													14	67					0	0	0.033300	0	0
MYH13	8735	broad.mit.edu	37	17	10206521	10206521	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:10206521C>T	ENST00000418404.3	-	38	5822	c.5659G>A	c.(5659-5661)Gag>Aag	p.E1887K	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.E1887K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1887					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACCGCCTCCTCAGCCTGCCTC	0.592000													38	42					0	0	0.074837	0	0
ANKRD20A1	84210	broad.mit.edu	37	9	67968407	67968407	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:67968407G>A	ENST00000377477.2	+	15	2078	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AGTAAAAGCTGAGAATGAGTT	0.328000													81	132					0	0	0.048971	0	0
SLC45A2	51151	broad.mit.edu	37	5	33964006	33964006	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:33964006G>A	ENST00000382102.3	-	3	735	c.678C>T	c.(676-678)ctC>ctT	p.L226L	SLC45A2_ENST00000342059.3_Silent_p.L167L|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000296589.4_Silent_p.L226L	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	226					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.L226L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AACACAAAGTGAGCACCAATG	0.502000													21	107					0	0	0.049695	0	0
KIAA0196	9897	broad.mit.edu	37	8	126061284	126061284	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:126061284G>A	ENST00000318410.7	-	19	2692	c.2343C>T	c.(2341-2343)aaC>aaT	p.N781N	KIAA0196_ENST00000517845.1_Silent_p.N633N	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	781					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTTGCTCCACGTTGTAATTTA	0.323000													19	94					0	0	0.043863	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945482	16945482	+	RNA	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:16945482G>T	ENST00000412962.1	-	0	2037																											GCTCCTGCCGGCTCTGGGCAT	0.632000													15	130					0.000219431	0.000224247	0.020292	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766782	171766782	+	Missense_Mutation	SNP	C	C	T	rs138949033		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:171766782C>T	ENST00000311601.5	-	13	1497	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	443					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGTCACCTCGTGGGGCAGG	0.647000													16	18					0	0	0.033300	0	0
TTN	7273	broad.mit.edu	37	2	179412163	179412163	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:179412163G>A	ENST00000589042.1	-	339	94414	c.94190C>T	c.(94189-94191)tCa>tTa	p.S31397L	TTN_ENST00000359218.5_Missense_Mutation_p.S22457L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28829L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22332L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22524L|TTN_ENST00000591111.1_Missense_Mutation_p.S29756L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29756	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTGGTGCTGATTCTAGAGG	0.323000													6	23					0	0	0.021553	0	0
HOMER1	9456	broad.mit.edu	37	5	78671855	78671855	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:78671855C>T	ENST00000334082.6	-	9	2484	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	HOMER1_ENST00000282260.6_Missense_Mutation_p.A218T|HOMER1_ENST00000508576.1_3'UTR|HOMER1_ENST00000535690.1_Missense_Mutation_p.A174T	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	348					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		AGTAGCTTGGCCAAGTTATCT	0.363000													13	49					0	0	0.093190	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136594225	136594225	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:136594225G>T	ENST00000355849.5	+	6	1126	c.716G>T	c.(715-717)aGa>aTa	p.R239I	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	239	Interaction with SIAH1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AGTCGGGGAAGAGGACTTCTC	0.587000													27	97					4.7796e-09	4.97812e-09	0.099896	1	0
RPLP1	6176	broad.mit.edu	37	15	69746006	69746006	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:69746006C>T	ENST00000260379.6	+	2	258	c.93C>T	c.(91-93)ctC>ctT	p.L31L	RPLP1_ENST00000357790.5_Intron|RPLP1_ENST00000560274.1_Intron	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN	ribosomal protein, large, P1	31					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1						TCAATGCCCTCATTAAAGCAG	0.418000													68	69					0	0	0.048971	0	0
DYM	54808	broad.mit.edu	37	18	46904947	46904947	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:46904947A>G	ENST00000269445.6	-	5	868	c.411T>C	c.(409-411)ccT>ccC	p.P137P	DYM_ENST00000578396.1_5'UTR|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	137						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TGTAATTGCCAGGAGATTTTT	0.289000													24	41					0	0	0.069288	0	0
MCM8	84515	broad.mit.edu	37	20	5935320	5935320	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:5935320T>G	ENST00000378896.3	+	4	697	c.320T>G	c.(319-321)aTt>aGt	p.I107S	MCM8_ENST00000378886.2_Missense_Mutation_p.I107S|MCM8_ENST00000265187.4_Missense_Mutation_p.I107S|MCM8_ENST00000378883.1_Missense_Mutation_p.I107S	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	107					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ACAAGGCATATTGATTTGTAT	0.363000													16	58					0	0	0.033300	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73414511	73414511	+	Missense_Mutation	SNP	G	G	A	rs145300703		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:73414511G>A	ENST00000286657.4	-	3	224	c.188C>T	c.(187-189)gCg>gTg	p.A63V	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	63					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTGTGACTCGCAGAAAGAGT	0.448000													23	67					0	0	0.069288	0	0
CCDC114	93233	broad.mit.edu	37	19	48800570	48800570	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:48800570T>C	ENST00000315396.7	-	14	2358	c.1676A>G	c.(1675-1677)cAc>cGc	p.H559R		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	559										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AAAAGTGACGTGGCCAAGAGA	0.637000													18	21					0	0	0.049695	0	0
ATP6V0B	533	broad.mit.edu	37	1	44441505	44441505	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:44441505G>T	ENST00000532642.1	+	2	198	c.101G>T	c.(100-102)cGc>cTc	p.R34L	ATP6V0B_ENST00000472174.2_Missense_Mutation_p.R34L|ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000471859.2_Intron			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	34					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TTGGGCTTCCGCTTTGATGTG	0.537000													77	203					1.68136e-41	1.90984e-41	0.048971	1	0
HDGFRP2	84717	broad.mit.edu	37	19	4475339	4475339	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:4475339C>T	ENST00000301284.4	+	2	204	c.140C>T	c.(139-141)aCa>aTa	p.T47I	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.T47I	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		47	PWWP.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										TTCTTTGGCACACACGAAACG	0.602000													18	29					0	0	0.038395	0	0
CXorf22	170063	broad.mit.edu	37	X	35959432	35959432	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:35959432C>G	ENST00000297866.5	+	3	500	c.434C>G	c.(433-435)tCa>tGa	p.S145*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	145										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAAATTGAATCAGTAGTTAAT	0.358000													29	52					0	0	0.041601	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799250	57799250	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:57799250A>C	ENST00000302622.3	+	1	849	c.826A>C	c.(826-828)Aag>Cag	p.K276Q	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CAACTTCAACAAGGTGGTATC	0.488000													25	161					0	0	0.099896	0	0
LECT2	3950	broad.mit.edu	37	5	135283149	135283149	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:135283149C>G	ENST00000274507.1	-	4	527	c.327G>C	c.(325-327)aaG>aaC	p.K109N	LECT2_ENST00000512872.1_Missense_Mutation_p.K37N|LECT2_ENST00000522943.1_Intron|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000471827.1_Intron	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	109					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACCTTTATACTTAATTGGCT	0.318000													34	45					0	0	0.050027	0	0
MACF1	23499	broad.mit.edu	37	1	39889764	39889764	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:39889764G>C	ENST00000564288.1	+	61	16991	c.16214G>C	c.(16213-16215)aGa>aCa	p.R5405T	MACF1_ENST00000539005.1_Missense_Mutation_p.R3322T|MACF1_ENST00000317713.7_Missense_Mutation_p.R3343T|MACF1_ENST00000567887.1_Missense_Mutation_p.R5442T|MACF1_ENST00000372915.3_Missense_Mutation_p.R5410T|MACF1_ENST00000361689.2_Missense_Mutation_p.R3343T|MACF1_ENST00000289893.4_Missense_Mutation_p.R3845T|MACF1_ENST00000545844.1_Missense_Mutation_p.R3343T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5410					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGGAGGCAGAATAGCCCAG	0.473000													15	63					0	0	0.028581	0	0
LCA10	100996465	broad.mit.edu	37	X	153154021	153154021	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:153154021G>A	ENST00000357566.1	+	7	968	c.462G>A	c.(460-462)acG>acA	p.T154T																								TGCAGAAGACGCAGAAGCCAC	0.577000													14	2					0	0	0.038395	0	0
CREBBP	1387	broad.mit.edu	37	16	3786148	3786148	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:3786148A>C	ENST00000262367.5	-	28	5426	c.4617T>G	c.(4615-4617)taT>taG	p.Y1539*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Y1501*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1539	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CACCTTCAAAATAGGGCAGTT	0.478000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						80	63					0	0	0.048971	0	0
DSC1	1823	broad.mit.edu	37	18	28736055	28736055	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:28736055G>T	ENST00000257197.3	-	4	683	c.422C>A	c.(421-423)gCt>gAt	p.A141D	DSC1_ENST00000257198.5_Missense_Mutation_p.A141D|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	141	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CATCAATGAAGCTGGAATAGG	0.403000													23	71					3.5997e-14	3.83497e-14	0.069288	1	0
CRAT	1384	broad.mit.edu	37	9	131864786	131864786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:131864786G>C	ENST00000318080.2	-	5	817	c.523C>G	c.(523-525)Cag>Gag	p.Q175E	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	175					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GACAAGATCTGATAGTACTGG	0.597000													89	170					0	0	0.048971	0	0
B4GALT6	9331	broad.mit.edu	37	18	29206280	29206280	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:29206280G>C	ENST00000306851.5	-	8	1263	c.967C>G	c.(967-969)Cat>Gat	p.H323D	B4GALT6_ENST00000237019.7_Missense_Mutation_p.H284D|B4GALT6_ENST00000383131.3_Missense_Mutation_p.H284D	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	323					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CTATGGTGATGAGGAATTGAC	0.358000													45	15					0	0	0.042209	0	0
TRHR	7201	broad.mit.edu	37	8	110100398	110100398	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:110100398C>T	ENST00000518632.1	+	2	1008	c.657C>T	c.(655-657)ttC>ttT	p.F219F	TRHR_ENST00000311762.2_Silent_p.F219F			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	219						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GAATCCTTTTCTTAAATCCCA	0.358000													34	119					0	0	0.069456	0	0
MRPL35	51318	broad.mit.edu	37	2	86434368	86434368	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:86434368C>T	ENST00000337109.4	+	3	330	c.296C>T	c.(295-297)gCa>gTa	p.A99V	MRPL35_ENST00000254644.8_Missense_Mutation_p.A99V|MRPL35_ENST00000605125.1_Intron|MRPL35_ENST00000409180.1_Missense_Mutation_p.A99V	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	99					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						TACTTCAGTGCAAGAAAAGGC	0.418000													9	60					0	0	0.069234	0	0
FBN1	2200	broad.mit.edu	37	15	48776085	48776085	+	Missense_Mutation	SNP	A	A	T	rs140596		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:48776085A>T	ENST00000316623.5	-	31	4223	c.3768T>A	c.(3766-3768)aaT>aaA	p.N1256K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1256	EGF-like 20; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTCCAGGGATATTTGTGCACT	0.398000													57	66					0	0	0.048971	0	0
LRRC8D	55144	broad.mit.edu	37	1	90400469	90400469	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:90400469A>G	ENST00000337338.5	+	3	2249	c.1842A>G	c.(1840-1842)acA>acG	p.T614T	LRRC8D_ENST00000394593.3_Silent_p.T614T	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	614						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CACATCTTACAAAGTTAGTCA	0.438000													44	99					0	0	0.048971	0	0
OVCH1	341350	broad.mit.edu	37	12	29630357	29630357	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:29630357G>T	ENST00000318184.5	-	11	1162	c.1163C>A	c.(1162-1164)gCc>gAc	p.A388D	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	388	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGAACCATGGCCTCACTGGT	0.423000													66	51					3.07184e-27	3.40619e-27	0.048971	1	0
LOC101927755	101927755	broad.mit.edu	37	17	58066651	58066651	+	RNA	SNP	C	C	T	rs144367363	by1000genomes	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333000													3	31					0	0	0.004672	0	0
TP53AIP1	63970	broad.mit.edu	37	11	128807621	128807621	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:128807621G>A	ENST00000602346.1	-	2	302	c.93C>T	c.(91-93)ctC>ctT	p.L31L	TP53AIP1_ENST00000530777.1_Silent_p.L31L|TP53AIP1_ENST00000531399.1_Silent_p.L31L|TP53AIP1_ENST00000458238.2_Silent_p.L31L	NM_001251964.1	NP_001238893.1	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1	31					apoptosis	mitochondrion				large_intestine(1)|lung(1)|skin(1)	3						GCATCACCGAGAGGTTCTGGT	0.622000													17	44					0	0	0.049695	0	0
CACNA1G	8913	broad.mit.edu	37	17	48681612	48681612	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:48681612C>T	ENST00000352832.5	+	21	4569	c.4197C>T	c.(4195-4197)ttC>ttT	p.F1399F	CACNA1G_ENST00000515411.1_Silent_p.F1422F|CACNA1G_ENST00000514717.1_Silent_p.F1399F|CACNA1G_ENST00000442258.2_Silent_p.F1399F|CACNA1G_ENST00000514181.1_Silent_p.F1422F|CACNA1G_ENST00000512389.1_Silent_p.F1422F|CACNA1G_ENST00000505165.1_Silent_p.F1422F|CACNA1G_ENST00000513964.1_Silent_p.F1422F|CACNA1G_ENST00000503485.1_Silent_p.F1422F|CACNA1G_ENST00000358244.5_Silent_p.F1399F|CACNA1G_ENST00000507510.2_Silent_p.F1422F|CACNA1G_ENST00000354983.4_Silent_p.F1399F|CACNA1G_ENST00000510366.1_Silent_p.F1422F|CACNA1G_ENST00000360761.4_Silent_p.F1399F|CACNA1G_ENST00000507896.1_Silent_p.F1422F|CACNA1G_ENST00000515165.1_Silent_p.F1422F|CACNA1G_ENST00000507609.1_Silent_p.F1422F|CACNA1G_ENST00000513689.2_Silent_p.F1422F|CACNA1G_ENST00000359106.5_Silent_p.F1422F|CACNA1G_ENST00000507336.1_Silent_p.F1422F|CACNA1G_ENST00000502264.1_Silent_p.F1399F|CACNA1G_ENST00000510115.1_Silent_p.F1399F|CACNA1G_ENST00000514079.1_Silent_p.F1422F|CACNA1G_ENST00000515765.1_Silent_p.F1422F|CACNA1G_ENST00000429973.2_Silent_p.F1422F|CACNA1G_ENST00000416767.4_Silent_p.F1422F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1422					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTGTGCCTTCTTCATCATTT	0.607000													32	129					0	0	0.069456	0	0
CCNB3	85417	broad.mit.edu	37	X	50031856	50031856	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:50031856A>G	ENST00000376042.1	+	4	471	c.173A>G	c.(172-174)aAa>aGa	p.K58R	CCNB3_ENST00000276014.7_Missense_Mutation_p.K58R|CCNB3_ENST00000348603.2_Missense_Mutation_p.K58R|CCNB3_ENST00000376038.1_Missense_Mutation_p.K58R			Q8WWL7	CCNB3_HUMAN	cyclin B3	58					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GGAGCACTCAAAAAGAGATCA	0.413000													19	3					0	0	0.038395	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84534435	84534435	+	RNA	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:84534435C>T	ENST00000527857.1	+	0	4457					NR_026851.1																						GGGCTATCCCCGCAACTACAC	0.502000													6	13					0	0	0.029380	0	0
SEMA3D	223117	broad.mit.edu	37	7	84671572	84671572	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:84671572T>C	ENST00000284136.6	-	8	934	c.891A>G	c.(889-891)atA>atG	p.I297M		NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	297	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCCACTTGTTTATCAGGCTGC	0.378000													193	306					0	0	0.048971	0	0
HEATR1	55127	broad.mit.edu	37	1	236729993	236729993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:236729993C>T	ENST00000366582.3	-	30	4375	c.4261G>A	c.(4261-4263)Gaa>Aaa	p.E1421K	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1340K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1421					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACATACTGTTCAAAAAGCAAG	0.488000													28	36					0	0	0.041601	0	0
DMD	1756	broad.mit.edu	37	X	32662325	32662325	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:32662325C>T	ENST00000357033.4	-	11	1461	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	DMD_ENST00000288447.4_Missense_Mutation_p.E411K|DMD_ENST00000378677.2_Missense_Mutation_p.E415K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	419					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTGTACTTCAGTTTCTTCA	0.388000													134	24					0	0	0.048971	0	0
HERC2	8924	broad.mit.edu	37	15	28501377	28501377	+	Silent	SNP	C	C	A	rs139718674	by1000genomes	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:28501377C>A	ENST00000261609.7	-	18	2712	c.2604G>T	c.(2602-2604)acG>acT	p.T868T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	868					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T868T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGTCACCACCGTCTGCTTCA	0.627000													5	15					0.0215528	0.0217529	0.021553	1	0
DIP2B	57609	broad.mit.edu	37	12	51090911	51090911	+	Silent	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:51090911C>A	ENST00000301180.5	+	17	2035	c.2001C>A	c.(1999-2001)atC>atA	p.I667I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	667						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTGAGGCCATCTGTCCGTGCG	0.498000													7	29					2.0095e-06	2.06005e-06	0.029380	1	0
ZNF700	90592	broad.mit.edu	37	19	12059541	12059541	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:12059541C>T	ENST00000482090.1	+	3	1066	c.648C>T	c.(646-648)ttC>ttT	p.F216F	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Silent_p.F234F|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCCATTCTTTCAGTTTATATC	0.348000													22	81					0	0	0.062417	0	0
DIS3L2	129563	broad.mit.edu	37	2	232995343	232995343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:232995343G>A	ENST00000325385.7	+	7	892	c.616G>A	c.(616-618)Gat>Aat	p.D206N	DIS3L2_ENST00000409401.3_Missense_Mutation_p.D206N|DIS3L2_ENST00000273009.6_Missense_Mutation_p.D206N|DIS3L2_ENST00000409307.1_Missense_Mutation_p.D206N|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000360410.4_Silent_p.V225V	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	206							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGAGGATGGTGATGCACCGGT	0.393000													20	32					0	0	0.055883	0	0
UNC13C	440279	broad.mit.edu	37	15	54306851	54306851	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:54306851G>T	ENST00000545554.1	+	1	1751	c.1751G>T	c.(1750-1752)cGg>cTg	p.R584L	UNC13C_ENST00000260323.11_Missense_Mutation_p.R584L|UNC13C_ENST00000537900.1_Missense_Mutation_p.R584L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	584					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTTCGGACCGGGAGCTATGG	0.453000													21	48					1.87028e-06	1.92338e-06	0.062417	1	0
FAT4	79633	broad.mit.edu	37	4	126369781	126369781	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:126369781C>T	ENST00000394329.3	+	9	7623	c.7610C>T	c.(7609-7611)tCt>tTt	p.S2537F	FAT4_ENST00000335110.5_Missense_Mutation_p.S835F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2537	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGACATTTTCTGTGCATGTA	0.438000													18	45					0	0	0.033300	0	0
IRGQ	126298	broad.mit.edu	37	19	44099434	44099434	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:44099434C>T	ENST00000422989.1	-	2	212	c.57G>A	c.(55-57)ggG>ggA	p.G19G	IRGQ_ENST00000602269.1_Silent_p.G19G	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	19							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCGCGGACTTCCCCAAGCCCG	0.682000													14	48					0	0	0.020292	0	0
STC2	8614	broad.mit.edu	37	5	172750298	172750298	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:172750298C>T	ENST00000265087.4	-	3	1739	c.430G>A	c.(430-432)Gac>Aac	p.D144N	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	144					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCGCACAGGTCGTGCTTGAGG	0.622000													17	24					0	0	0.038395	0	0
MDC1	9656	broad.mit.edu	37	6	30672275	30672275	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:30672275C>T	ENST00000376406.3	-	10	5332	c.4685G>A	c.(4684-4686)aGg>aAg	p.R1562K	MDC1_ENST00000376405.2_Missense_Mutation_p.R1298K|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1562	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GACAGAGGACCTATTTGTCCT	0.592000								Other conserved DNA damage response genes					138	102					0	0	0.048971	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151205113	151205113	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:151205113C>G	ENST00000409426.1	+	6	982	c.537C>G	c.(535-537)ttC>ttG	p.F179L	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.F179L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.F178L|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.F191L			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	191	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACGATGAGTTCATTATTAAGA	0.488000													37	70					0	0	0.086207	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13936478	13936478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:13936478C>T	ENST00000254323.2	+	11	2168	c.1979C>T	c.(1978-1980)gCc>gTc	p.A660V	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A494V	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	660							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCGGTCAGCGCCCCACCAGAC	0.677000													30	24					0	0	0.054565	0	0
OR5R1	219479	broad.mit.edu	37	11	56185264	56185264	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:56185264A>G	ENST00000312253.1	-	1	444	c.445T>C	c.(445-447)Tat>Cat	p.Y149H		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CTGTATATATATGGAACTGCC	0.453000													39	81					0	0	0.074837	0	0
TEX15	56154	broad.mit.edu	37	8	30702296	30702296	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:30702296G>T	ENST00000256246.2	-	1	4312	c.4238C>A	c.(4237-4239)gCa>gAa	p.A1413E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1413										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGTTCCTGATGCTACATCCAA	0.363000													42	43					1.06522e-23	1.17716e-23	0.045515	1	0
MACF1	23499	broad.mit.edu	37	1	39888185	39888185	+	Missense_Mutation	SNP	G	G	A	rs148666575	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:39888185G>A	ENST00000564288.1	+	59	16733	c.15956G>A	c.(15955-15957)cGa>cAa	p.R5319Q	MACF1_ENST00000539005.1_Missense_Mutation_p.R3236Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R3257Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R5356Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R5324Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R3257Q|MACF1_ENST00000289893.4_Missense_Mutation_p.R3759Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R3257Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5324					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCAATGCTCGATGGAATACA	0.428000													21	50					0	0	0.069288	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967486	41967486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:41967486G>A	ENST00000298919.7	+	10	2513	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	PDZRN4_ENST00000402685.2_Missense_Mutation_p.E969K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E711K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	969							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGCAGGTTAGAGTGTCTCAA	0.498000													14	25					0	0	0.020292	0	0
U2SURP	23350	broad.mit.edu	37	3	142747454	142747454	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:142747454G>C	ENST00000397933.2	+	15	1631	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	U2SURP_ENST00000473835.2_Missense_Mutation_p.E526Q|U2SURP_ENST00000493598.2_Missense_Mutation_p.E525Q			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	526					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AGCTTTTGTAGAGGAACCTAG	0.343000													29	80					0	0	0.045705	0	0
KLHL9	55958	broad.mit.edu	37	9	21334596	21334596	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:21334596T>C	ENST00000359039.4	-	1	783	c.263A>G	c.(262-264)cAa>cGa	p.Q88R	KLHL9_ENST00000537938.1_Missense_Mutation_p.Q20R			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	88	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CATCAAATCTTGTTCTTTCAT	0.378000													72	266					0	0	0.048971	0	0
FAM20B	9917	broad.mit.edu	37	1	179019501	179019501	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:179019501G>A	ENST00000263733.4	+	3	800		c.e3+1			NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B							Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						ACTTGGACAGGTGCGTATGAT	0.443000													62	123					0	0	0.048971	0	0
CA7	766	broad.mit.edu	37	16	66881069	66881069	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:66881069C>T	ENST00000394069.3	+	2	440	c.9C>T	c.(7-9)ctC>ctT	p.L3L	CA7_ENST00000338437.2_Silent_p.L59L|RP11-61A14.1_ENST00000551187.1_RNA	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	59					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GCATGTCCCTCAGCATCACCA	0.572000													17	20					0	0	0.033300	0	0
ANAPC1	64682	broad.mit.edu	37	2	112621282	112621282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:112621282G>A	ENST00000341068.3	-	9	1794	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	341					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AATAGAAGGTGAGCGAGAATG	0.428000													17	107					0	0	0.043863	0	0
CPD	1362	broad.mit.edu	37	17	28712233	28712233	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:28712233G>A	ENST00000225719.4	+	2	1049	c.973G>A	c.(973-975)Gca>Aca	p.A325T	CPD_ENST00000543464.2_Missense_Mutation_p.A78T	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	325	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CACAAACGGCGCACATTGGTA	0.413000													149	279					0	0	0.048971	0	0
PDGFRB	5159	broad.mit.edu	37	5	149505034	149505034	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:149505034T>C	ENST00000261799.4	-	12	2250	c.1781A>G	c.(1780-1782)gAg>gGg	p.E594G		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	594					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGCGGCAGCTCCCACGTGGA	0.592000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								12	11					0	0	0.024245	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686323	125686323	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:125686323C>T	ENST00000371126.1	-	1	511	c.269G>A	c.(268-270)cGc>cAc	p.R90H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	90										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTCCAGTTGGCGCTCCGTCAG	0.662000													16	24					0	0	0.033300	0	0
GPR68	8111	broad.mit.edu	37	14	91700947	91700947	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:91700947G>T	ENST00000531499.2	-	2	787	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	GPR68_ENST00000535815.1_Missense_Mutation_p.L150M|GPR68_ENST00000238699.3_Missense_Mutation_p.L160M			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	150					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CTGGTCAGCAGCTCCTTGGCC	0.637000													11	15					4.68919e-08	4.85294e-08	0.069234	1	0
ENDOD1	23052	broad.mit.edu	37	11	94861970	94861970	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:94861970G>A	ENST00000278505.4	+	2	848	c.730G>A	c.(730-732)Gac>Aac	p.D244N		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	244						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				CCGGGACAGTGACATCATAGA	0.498000													23	30					0	0	0.091800	0	0
P2RY1	5028	broad.mit.edu	37	3	152554107	152554107	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:152554107T>C	ENST00000305097.3	+	1	1372	c.536T>C	c.(535-537)gTg>gCg	p.V179A		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	179					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGGCTCATTGTGGTGGTGGCG	0.567000													36	52					0	0	0.080422	0	0
PLP2	5355	broad.mit.edu	37	X	49029745	49029745	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:49029745G>A	ENST00000376327.5	+	3	335	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	PLP2_ENST00000376322.3_Missense_Mutation_p.R87Q	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	87	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GATTTCTTCCGAACCCTCATA	0.532000													31	47					0	0	0.059317	0	0
ARMC9	80210	broad.mit.edu	37	2	232156134	232156134	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:232156134C>T	ENST00000349938.4	+	18	1889	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	565							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGATAGAATTCATCATCAAGC	0.378000													46	88					0	0	0.048971	0	0
KCNU1	157855	broad.mit.edu	37	8	36662755	36662755	+	Silent	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:36662755T>C	ENST00000399881.3	+	4	457	c.420T>C	c.(418-420)ccT>ccC	p.P140P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	140						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAACCATTCCTATTGATTTGG	0.363000													7	5					0	0	0.038147	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361657	105361657	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:105361657A>G	ENST00000369774.4	-	15	3594	c.3318T>C	c.(3316-3318)aaT>aaC	p.N1106N	SH3PXD2A_ENST00000540321.1_Silent_p.N973N|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Silent_p.N1078N|SH3PXD2A_ENST00000538130.1_Silent_p.N941N			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1106	SH3 5.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	p.P1077fs*9(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACCACCAGCCATTAGGGTTCC	0.552000													22	50					0	0	0.034045	0	0
KANSL3	55683	broad.mit.edu	37	2	97268530	97268530	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:97268530G>A	ENST00000599854.1	-	18	2425	c.1958C>T	c.(1957-1959)tCt>tTt	p.S653F	KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.S560F|KANSL3_ENST00000431828.1_Missense_Mutation_p.S740F|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	766																	TGGAAGGCCAGAGGTCTTGCT	0.592000													24	104					0	0	0.030593	0	0
FAT4	79633	broad.mit.edu	37	4	126411829	126411829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:126411829G>T	ENST00000394329.3	+	17	13865	c.13852G>T	c.(13852-13854)Gag>Tag	p.E4618*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E2859*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4618					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAGGAGATAGAGCACTATGA	0.478000													18	37					1.37522e-17	1.48451e-17	0.043863	1	0
KIF21A	55605	broad.mit.edu	37	12	39730987	39730987	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:39730987T>C	ENST00000395670.3	-	17	2748	c.2329A>G	c.(2329-2331)Atg>Gtg	p.M777V	KIF21A_ENST00000361961.3_Missense_Mutation_p.M764V|KIF21A_ENST00000544797.2_Missense_Mutation_p.M764V|KIF21A_ENST00000361418.5_Missense_Mutation_p.M777V|KIF21A_ENST00000541463.2_Missense_Mutation_p.M764V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	777					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTTCTTTCATTTGTTTCATT	0.348000													44	93					0	0	0.039052	0	0
BRPF1	7862	broad.mit.edu	37	3	9786008	9786008	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:9786008G>T	ENST00000383829.2	+	9	3140	c.2736G>T	c.(2734-2736)aaG>aaT	p.K912N	BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000302054.3_Missense_Mutation_p.K906N|BRPF1_ENST00000424362.1_Missense_Mutation_p.K905N|BRPF1_ENST00000457855.1_Missense_Mutation_p.K906N	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	906	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GACCGCCCAAGAGGCCGGGCC	0.647000													39	72					3.09479e-21	3.38557e-21	0.092188	1	0
PTGER2	5732	broad.mit.edu	37	14	52781858	52781858	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:52781858C>G	ENST00000245457.5	+	1	746	c.592C>G	c.(592-594)Cag>Gag	p.Q198E	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	198						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)	CGCTTACCTGCAGCTGTACGC	0.627000													3	31					0	0	0.014758	0	0
KATNAL1	84056	broad.mit.edu	37	13	30829724	30829724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr13:30829724G>A	ENST00000380615.3	-	4	519	c.352C>T	c.(352-354)Cga>Tga	p.R118*	KATNAL1_ENST00000380617.3_Nonsense_Mutation_p.R118*	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	118						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CTTACTTCTCGATTGGGACGC	0.388000													176	78					0	0	0.048971	0	0
ERBB4	2066	broad.mit.edu	37	2	212522499	212522499	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:212522499G>A	ENST00000342788.4	-	16	2236	c.1926C>T	c.(1924-1926)tcC>tcT	p.S642S	ERBB4_ENST00000436443.1_Silent_p.S642S|ERBB4_ENST00000402597.1_Intron	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	642					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTGGTAAAGTGGAATGGCCCG	0.428000										TSP Lung(8;0.080)			45	57					0	0	0.048971	0	0
PTCH1	5727	broad.mit.edu	37	9	98221997	98221997	+	Silent	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:98221997C>A	ENST00000430669.2	-	17	3159	c.2574G>T	c.(2572-2574)acG>acT	p.T858T	PTCH1_ENST00000437951.1_Silent_p.T858T|PTCH1_ENST00000375274.2_Silent_p.T923T|PTCH1_ENST00000418258.1_Silent_p.T773T|PTCH1_ENST00000429896.2_Silent_p.T773T|PTCH1_ENST00000331920.6_Silent_p.T924T|PTCH1_ENST00000421141.1_Silent_p.T773T			Q13635	PTC1_HUMAN	patched 1	924					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGACCCAAGCCGTCAGGTAGA	0.552000													24	29					3.5997e-14	3.83497e-14	0.069288	1	0
TPH2	121278	broad.mit.edu	37	12	72388270	72388270	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:72388270G>A	ENST00000333850.3	+	8	1134	c.993G>A	c.(991-993)aaG>aaA	p.K331K		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	331					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CGGATCCTAAGTTTGCTCAGT	0.403000													31	132					0	0	0.059317	0	0
APLP1	333	broad.mit.edu	37	19	36369852	36369852	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:36369852C>T	ENST00000221891.4	+	15	1903	c.1711C>T	c.(1711-1713)Ctg>Ttg	p.L571L	APLP1_ENST00000537454.2_Silent_p.L531L|APLP1_ENST00000586861.1_Silent_p.L564L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	570					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGGGATGAGCTGGTAAGAGG	0.582000													51	23					0	0	0.048971	0	0
SLC4A5	57835	broad.mit.edu	37	2	74474321	74474321	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:74474321C>T	ENST00000394019.2	-	19	2298	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	SLC4A5_ENST00000346834.4_Missense_Mutation_p.R634H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R634H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R570H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R634H|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R634H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R570H|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R634H	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	634						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTCGGTGAAGCGGGTGATATA	0.488000													22	190					0	0	0.069288	0	0
LRRC4	64101	broad.mit.edu	37	7	127670603	127670603	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:127670603G>A	ENST00000249363.3	-	2	348	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	31						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GCTGCACACAGAATCCACACT	0.622000													59	79					0	0	0.048971	0	0
DEFB125	245938	broad.mit.edu	37	20	76884	76884	+	Silent	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:76884G>C	ENST00000382410.2	+	2	297	c.297G>C	c.(295-297)ctG>ctC	p.L99L	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	99					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TGAATGATCTGATAACATTTG	0.423000													173	127					0	0	0.048971	0	0
SCRIB	23513	broad.mit.edu	37	8	144895029	144895029	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:144895029G>A	ENST00000356994.2	-	8	751	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	SCRIB_ENST00000320476.3_Silent_p.L249L|SCRIB_ENST00000377533.3_Silent_p.L168L	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	249	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGGGACAGCAGCAGGTCAGTG	0.701000													3	18					0	0	0.009096	0	0
TACC3	10460	broad.mit.edu	37	4	1725159	1725159	+	Missense_Mutation	SNP	A	A	G	rs145470576	byFrequency	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:1725159A>G	ENST00000313288.4	+	2	117	c.11A>G	c.(10-12)cAg>cGg	p.Q4R		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	4						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ATGAGTCTGCAGGTCTTAAAC	0.458000													3	35					0	0	0.004672	0	0
SLC47A1	55244	broad.mit.edu	37	17	19480737	19480737	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:19480737G>A	ENST00000270570.4	+	17	1670	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000571335.1_Silent_p.P274P|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000575023.1_Silent_p.P226P|SLC47A1_ENST00000457293.1_Silent_p.P528P|SLC47A1_ENST00000395585.1_Silent_p.P528P	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	528						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AACCTTTGCCGGAACATCCAC	0.532000													38	157					0	0	0.092188	0	0
HNRNPDL	9987	broad.mit.edu	37	4	83349206	83349206	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:83349206C>T	ENST00000295470.5	-	3	914	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	HNRNPDL_ENST00000514511.1_Intron|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.E247K|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.E128K|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.E128K	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like																		TTAATTTGTTCTTCAGAAGTA	0.383000													27	88					0	0	0.030593	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655856	46655856	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr22:46655856C>T	ENST00000253255.5	-	1	3363	c.3364G>A	c.(3364-3366)Ggt>Agt	p.G1122S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1122					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTCTTCTCACCAAGAATGCAA	0.498000													39	183					0	0	0.092188	0	0
MGA	23269	broad.mit.edu	37	15	41961492	41961492	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:41961492C>T	ENST00000219905.7	+	2	581	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	MGA_ENST00000570161.1_Missense_Mutation_p.R134C|MGA_ENST00000545763.1_Missense_Mutation_p.R134C|MGA_ENST00000389936.4_Missense_Mutation_p.R134C|MGA_ENST00000566586.1_Missense_Mutation_p.R134C|MGA_ENST00000568630.1_Intron	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	134						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGATAACCATCGTTATAAGTG	0.418000													130	245					0	0	0.048971	0	0
IZUMO2	126123	broad.mit.edu	37	19	50666011	50666011	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:50666011C>A	ENST00000293405.3	-	2	292	c.292G>T	c.(292-294)Ggt>Tgt	p.G98C		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	98						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						AGAGAGTTACCCATTAAGTGC	0.537000													31	67					1.06647e-15	1.14365e-15	0.064281	1	0
FZD4	8322	broad.mit.edu	37	11	86663440	86663440	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:86663440T>G	ENST00000531380.1	-	2	663	c.358A>C	c.(358-360)Atg>Ctg	p.M120L	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	120	FZ.				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAAAGACACATGCCGCCGCAT	0.478000													59	101					0	0	0.048971	0	0
TYW5	129450	broad.mit.edu	37	2	200800710	200800710	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:200800710G>C	ENST00000354611.4	-	7	900	c.635C>G	c.(634-636)tCc>tGc	p.S212C	TYW5_ENST00000452512.2_5'UTR|C2orf69_ENST00000491721.1_Intron	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	212	JmjC.				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						TCTAGCCTTGGAAAAAAGTGG	0.333000													43	163					0	0	0.098360	0	0
NYAP1	222950	broad.mit.edu	37	7	100087130	100087130	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:100087130G>T	ENST00000423930.1	+	4	1945	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	NYAP1_ENST00000300179.2_Missense_Mutation_p.D596Y|NYAP1_ENST00000454988.1_Missense_Mutation_p.D539Y			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	596																	GCAAGGGACCGATGGGGGTGC	0.637000													34	71					9.8876e-21	1.07805e-20	0.074837	1	0
PNOC	5368	broad.mit.edu	37	8	28196662	28196662	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:28196662G>C	ENST00000301908.3	+	3	440	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	PNOC_ENST00000522209.1_Missense_Mutation_p.E14Q|RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	78					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		TGCCGCCCCAGAGCATGTGGC	0.632000													11	5					0	0	0.105934	0	0
TTC18	118491	broad.mit.edu	37	10	75051461	75051461	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:75051461C>G	ENST00000310715.3	-	19	2287	c.2167G>C	c.(2167-2169)Gaa>Caa	p.E723Q	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.E723Q|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.E723Q|TTC18_ENST00000355577.3_Missense_Mutation_p.E192Q	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	723							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AAGAAAATTTCTGCTTGCTCA	0.418000													15	25					0	0	0.020292	0	0
CLDN19	149461	broad.mit.edu	37	1	43205572	43205572	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:43205572C>T	ENST00000539749.1	-	1	353	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	CLDN19_ENST00000372539.3_Missense_Mutation_p.A55T|CLDN19_ENST00000296387.1_Missense_Mutation_p.A55T	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN	claudin 19	55					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTGGGAGGCGCAGGACATC	0.647000													4	16					0	0	0.009096	0	0
NCAM2	4685	broad.mit.edu	37	21	22656638	22656638	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:22656638A>G	ENST00000400546.1	+	3	504	c.255A>G	c.(253-255)atA>atG	p.I85M	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.I110M	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	85	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATGCAAATATAGAAGATGCAG	0.368000													49	87					0	0	0.048971	0	0
USH1C	10083	broad.mit.edu	37	11	17538984	17538984	+	Silent	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:17538984A>G	ENST00000527720.1	-	14	1399	c.1155T>C	c.(1153-1155)gaT>gaC	p.D385D	USH1C_ENST00000527020.1_Silent_p.D397D|USH1C_ENST00000318024.4_Silent_p.D416D|USH1C_ENST00000005226.7_Intron			Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	416					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CATCCAGGTCATCTGCGGGCT	0.627000													3	3					0	0	0.004672	0	0
ZNF236	7776	broad.mit.edu	37	18	74617282	74617282	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr18:74617282C>G	ENST00000253159.8	+	13	2400	c.2202C>G	c.(2200-2202)atC>atG	p.I734M	ZNF236_ENST00000320610.9_Missense_Mutation_p.I736M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	734					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ACATGGGTATCCACAACGACC	0.433000													19	22					0	0	0.038395	0	0
FAM71F1	84691	broad.mit.edu	37	7	128355645	128355645	+	Silent	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:128355645G>T	ENST00000315184.5	+	1	203	c.150G>T	c.(148-150)gcG>gcT	p.A50A	FAM71F1_ENST00000485070.1_Intron|FAM71F1_ENST00000469348.1_Intron	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	50										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACCCTGGAGCGGGCCTAGGTG	0.537000													59	85					2.44813e-32	2.75204e-32	0.048971	1	0
SYNPO2	171024	broad.mit.edu	37	4	119952786	119952786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:119952786G>C	ENST00000307142.4	+	4	3052	c.2856G>C	c.(2854-2856)aaG>aaC	p.K952N	SYNPO2_ENST00000429713.2_Missense_Mutation_p.K952N|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.K952N	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	952						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAATGGGCAAGAAAAAGGGAA	0.498000													8	40					0	0	0.047766	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90581033	90581033	+	RNA	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:90581033G>C	ENST00000551025.1	+	0	7255							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AATTTTATTGGAGTGTCAGAA	0.338000													38	39					0	0	0.039052	0	0
RP4-583P15.15	0	broad.mit.edu	37	20	62340259	62340259	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr20:62340259G>A	ENST00000490623.2	+	1	44	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	ZGPAT_ENST00000355969.6_Silent_p.A109A|ZGPAT_ENST00000369967.3_Silent_p.A109A|ZGPAT_ENST00000448100.2_Silent_p.A109A|ZGPAT_ENST00000357119.4_Silent_p.A109A|ZGPAT_ENST00000328969.5_Silent_p.A109A																							AAGCAGAGGCGGGGCCAGAAT	0.642000													19	37					0	0	0.069288	0	0
PKDCC	91461	broad.mit.edu	37	2	42284440	42284440	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:42284440C>T	ENST00000294964.5	+	6	1482	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L	PKDCC_ENST00000480099.1_3'UTR	NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	434	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						GGAGCTGCCTCCTTTCAGTGT	0.592000													39	119					0	0	0.098360	0	0
CACNA1G	8913	broad.mit.edu	37	17	48683487	48683487	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:48683487G>A	ENST00000416767.4	+	23	4553	c.4525G>A	c.(4525-4527)Gaa>Aaa	p.E1509K	CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000359106.5_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000429973.2_Intron			O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	998					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGCTCCACGAAGAGATCAG	0.617000													13	62					0	0	0.093190	0	0
KLHL38	340359	broad.mit.edu	37	8	124664012	124664012	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:124664012G>C	ENST00000325995.7	-	1	1178	c.1155C>G	c.(1153-1155)atC>atG	p.I385M	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	385										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGATGGAGAAGATGAAGTTCT	0.557000													30	130					0	0	0.041601	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													6	23					0	0	0.021553	0	0
VSTM4	196740	broad.mit.edu	37	10	50311870	50311870	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:50311870G>T	ENST00000298454.3	-	3	516	c.493C>A	c.(493-495)Ctt>Att	p.L165I	VSTM4_ENST00000332853.4_Intron	NM_144984.2	NP_659421.1	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	0						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GAAATCCCAAGAAAAGCTCCC	0.522000													15	32					6.72482e-11	7.0948e-11	0.024245	1	0
PKD1L2	114780	broad.mit.edu	37	16	81161440	81161440	+	RNA	SNP	G	G	A	rs117399993	by1000genomes	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:81161440G>A	ENST00000525539.1	-	0	6274				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTTTGCCCCAGATGGGATACC	0.547000													11	38					0	0	0.080935	0	0
GPR148	344561	broad.mit.edu	37	2	131487541	131487541	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:131487541T>C	ENST00000309926.4	+	1	899	c.817T>C	c.(817-819)Tac>Cac	p.Y273H		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	273						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GATCACATTGTACGTGAGCAC	0.582000													76	75					0	0	0.048971	0	0
STX11	8676	broad.mit.edu	37	6	144508325	144508325	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:144508325C>T	ENST00000367568.4	+	2	744	c.561C>T	c.(559-561)gaC>gaT	p.D187D		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	187					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GTAAGTGGGACGTGTTTTCCG	0.637000									Familial Hemophagocytic Lymphohistiocytosis				16	49					0	0	0.028581	0	0
ZNF716	441234	broad.mit.edu	37	7	57528875	57528875	+	Silent	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:57528875T>C	ENST00000420713.1	+	4	820	c.708T>C	c.(706-708)acT>acC	p.T236T		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GAATTCATACTGGAGAGAAAC	0.378000													5	28					0	0	0.014758	0	0
GRAMD2	196996	broad.mit.edu	37	15	72459414	72459414	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:72459414G>A	ENST00000309731.7	-	6	405	c.392C>T	c.(391-393)tCt>tTt	p.S131F		NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	131	GRAM.					integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CATTTGCACAGACACCACAGG	0.567000													9	45					0	0	0.047766	0	0
FOXP4	116113	broad.mit.edu	37	6	41533702	41533702	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:41533702G>C	ENST00000373060.1	+	2	662	c.204G>C	c.(202-204)caG>caC	p.Q68H	FOXP4_ENST00000409208.1_Splice_Site_p.Q68H|FOXP4_ENST00000373057.3_Splice_Site_p.Q68H|FOXP4_ENST00000373063.3_Splice_Site_p.Q68H|FOXP4_ENST00000307972.4_Splice_Site_p.Q68H	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	68	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGCAGCAACAGGTAGGAACTG	0.617000													10	31					0	0	0.093190	0	0
CEP112	201134	broad.mit.edu	37	17	64171210	64171210	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr17:64171210G>C	ENST00000392769.2	-	4	640	c.422C>G	c.(421-423)tCt>tGt	p.S141C	CEP112_ENST00000537949.1_Missense_Mutation_p.S141C|CEP112_ENST00000535342.2_Missense_Mutation_p.S141C	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	141						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTCTCCAGAAGAGAGTTTCCA	0.423000													33	187					0	0	0.050027	0	0
PDHA2	5161	broad.mit.edu	37	4	96761377	96761377	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:96761377C>A	ENST00000295266.4	+	1	139	c.76C>A	c.(76-78)Cgt>Agt	p.R26S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	26					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R26S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGTGGCATCCCGTAACTCCTC	0.522000													10	23					0.000442599	0.000450898	0.058154	1	0
CPNE8	144402	broad.mit.edu	37	12	39079368	39079368	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:39079368C>T	ENST00000331366.5	-	16	1291	c.1195G>A	c.(1195-1197)Gct>Act	p.A399T	CPNE8_ENST00000360449.3_Missense_Mutation_p.A387T|CPNE8_ENST00000538596.2_Missense_Mutation_p.A68T	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	399	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTGTAATAAGCCTCCATGACC	0.398000													18	228					0	0	0.038395	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151205035	151205035	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:151205035C>T	ENST00000409426.1	+	6	904	c.459C>T	c.(457-459)ctC>ctT	p.L153L	PIP5K1A_ENST00000441902.2_Silent_p.L153L|PIP5K1A_ENST00000368890.4_Silent_p.L152L|PIP5K1A_ENST00000368888.4_Silent_p.L165L			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	165	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTATTCCCTCTGCAGTGAGC	0.428000													12	57					0	0	0.076483	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94343392	94343392	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:94343392C>T	ENST00000436063.2	-	2	156	c.99G>A	c.(97-99)gcG>gcA	p.A33A	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTCTGGATGCGCTTGAATCC	0.443000													35	27					0	0	0.064281	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320834	128320834	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:128320834G>C	ENST00000262462.4	+	2	1500	c.490G>C	c.(490-492)Gga>Cga	p.G164R	SLC27A6_ENST00000506176.1_Missense_Mutation_p.G164R|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G164R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	164					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGATTTGCTTGGAACGGTAGA	0.373000													10	21					0	0	0.069234	0	0
MYL1	4632	broad.mit.edu	37	2	211158490	211158490	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:211158490C>T	ENST00000352451.3	-	5	660	c.513G>A	c.(511-513)ctG>ctA	p.L171L	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Silent_p.L127L	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	171	EF-hand 3.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GACCTGCCATCAGGGCTTCCA	0.423000													56	243					0	0	0.048971	0	0
SEC62	7095	broad.mit.edu	37	3	169706098	169706098	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:169706098C>T	ENST00000337002.4	+	7	739	c.681C>T	c.(679-681)ctC>ctT	p.L227L	SEC62_ENST00000480708.1_Silent_p.L227L|SEC62_ENST00000470355.1_3'UTR	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	227					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TTTATTACCTCAGTGTGGGTG	0.413000													60	216					0	0	0.048971	0	0
SNX18	112574	broad.mit.edu	37	5	53839070	53839070	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:53839070G>A	ENST00000381410.4	+	2	1873	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	0	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TGGAGGTGCAGAAGGCTGACG	0.408000													29	64					0	0	0.037714	0	0
RIMKLB	57494	broad.mit.edu	37	12	8926198	8926198	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:8926198G>A	ENST00000357529.3	+	7	2241	c.979G>A	c.(979-981)Gag>Aag	p.E327K	RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000535829.1_Missense_Mutation_p.E327K|RIMKLB_ENST00000538135.1_Missense_Mutation_p.E327K	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	327					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CACTGCCAGTGAGACTAGTGA	0.597000													45	35					0	0	0.048971	0	0
KDM1B	221656	broad.mit.edu	37	6	18212790	18212790	+	Silent	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:18212790G>A	ENST00000388870.2	+	18	2182	c.1941G>A	c.(1939-1941)aaG>aaA	p.K647K	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Silent_p.K414K|KDM1B_ENST00000397244.1_Silent_p.K415K			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	646					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TGTCAGAGAAGAAGATGAAGG	0.398000													114	706					0	0	0.048971	0	0
STAT1	6772	broad.mit.edu	37	2	191847160	191847160	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:191847160T>C	ENST00000361099.3	-	18	1918	c.1531A>G	c.(1531-1533)Aaa>Gaa	p.K511E	STAT1_ENST00000392322.3_Missense_Mutation_p.K511E|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.K511E|STAT1_ENST00000392323.2_Missense_Mutation_p.K513E	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	511					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AGACCTCTTTTGGTGACAGAA	0.403000													96	115					0	0	0.048971	0	0
C11orf16	56673	broad.mit.edu	37	11	8947287	8947287	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:8947287C>T	ENST00000326053.5	-	5	1033	c.927G>A	c.(925-927)ttG>ttA	p.L309L	C11orf16_ENST00000525780.1_Silent_p.L309L	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	309										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTGTGGGCTCCAACTCTGGAA	0.577000													25	53					0	0	0.083992	0	0
BICD2	23299	broad.mit.edu	37	9	95477535	95477535	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:95477535G>A	ENST00000375512.3	-	7	2536	c.2469C>T	c.(2467-2469)agC>agT	p.S823S	BICD2_ENST00000356884.6_Silent_p.S823S	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	823					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGACTTACGCTCGGTGTGG	0.652000													5	4					0	0	0.038147	0	0
ACADSB	36	broad.mit.edu	37	10	124800022	124800022	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr10:124800022G>C	ENST00000358776.4	+	4	358	c.344G>C	c.(343-345)gGa>gCa	p.G115A	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Missense_Mutation_p.G13A	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	115					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GGAGGCACAGGAGCTTCATTT	0.368000													41	59					0	0	0.104719	0	0
SCAF4	57466	broad.mit.edu	37	21	33076179	33076179	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr21:33076179G>A	ENST00000286835.7	-	4	602	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	SCAF4_ENST00000434667.3_Missense_Mutation_p.R59C|SCAF4_ENST00000399804.1_Missense_Mutation_p.R74C	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	74	CID.					nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AACTGATGACGAGACTGTCGC	0.353000													63	144					0	0	0.048971	0	0
H2AFY	9555	broad.mit.edu	37	5	134679035	134679035	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:134679035G>C	ENST00000511689.1	-	8	1461	c.868C>G	c.(868-870)Ctg>Gtg	p.L290V	H2AFY_ENST00000312469.4_Missense_Mutation_p.L287V|H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000423969.2_Missense_Mutation_p.L118V|H2AFY_ENST00000510038.1_Missense_Mutation_p.L290V|CTC-349C3.1_ENST00000432382.3_Missense_Mutation_p.R106T|H2AFY_ENST00000304332.4_Missense_Mutation_p.L289V	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	290	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCTTTTCCAGAAGTTCTTCA	0.522000													44	122					0	0	0.104719	0	0
S1PR4	8698	broad.mit.edu	37	19	3179545	3179545	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:3179545C>T	ENST00000246115.3	+	1	810	c.755C>T	c.(754-756)aCg>aTg	p.T252M		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	252					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CTGCTGAAGACGGTGCTGATG	0.687000													15	34					0	0	0.049695	0	0
FBN3	84467	broad.mit.edu	37	19	8193911	8193911	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:8193911C>T	ENST00000600128.1	-	18	2711		c.e18+1		FBN3_ENST00000270509.2_Splice_Site|FBN3_ENST00000601739.1_Splice_Site			Q75N90	FBN3_HUMAN	fibrillin 3							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGACCCAGTACCTTTGCAGAT	0.592000													17	39					0	0	0.049695	0	0
STAG2	10735	broad.mit.edu	37	X	123190029	123190029	+	Silent	SNP	G	G	T	rs142571900		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:123190029G>T	ENST00000371160.1	+	14	1538	c.1248G>T	c.(1246-1248)ctG>ctT	p.L416L	STAG2_ENST00000371145.3_Silent_p.L416L|STAG2_ENST00000354548.5_Silent_p.L347L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.L416L|STAG2_ENST00000371157.3_Silent_p.L416L|STAG2_ENST00000371144.3_Silent_p.L416L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	416					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TCTATCATCTGGTTTATTCAG	0.368000													37	53					3.43241e-23	3.78029e-23	0.111260	1	0
OR9Q1	219956	broad.mit.edu	37	11	57947275	57947275	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:57947275A>G	ENST00000335397.3	+	3	675	c.359A>G	c.(358-360)tAt>tGt	p.Y120C		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CTCATGGCCTATGACCGCTAC	0.552000													20	55					0	0	0.076483	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90572752	90572752	+	RNA	SNP	A	A	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:90572752A>G	ENST00000551025.1	+	0	2761							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AAACAGTAGAACTCACAAAAA	0.368000													95	77					0	0	0.048971	0	0
SYT5	6861	broad.mit.edu	37	19	55689707	55689707	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr19:55689707G>T	ENST00000354308.3	-	3	478	c.109C>A	c.(109-111)Ctg>Atg	p.L37M	SYT5_ENST00000537500.1_Missense_Mutation_p.L37M|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	37					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCTGAGACCAGCACGATGGTG	0.617000													9	5					2.74318e-10	2.88476e-10	0.058154	1	0
OTUD4	54726	broad.mit.edu	37	4	146067508	146067508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:146067508C>T	ENST00000454497.2	-	14	1275	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	OTUD4_ENST00000447906.2_Missense_Mutation_p.E445K|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	444							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGCGCTCTTCTGGGGAAAGG	0.413000													7	123					0	0	0.038147	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918839	144918839	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:144918839C>T	ENST00000529945.1	-	6	2275	c.1836G>A	c.(1834-1836)ttG>ttA	p.L612L	PDE4DIP_ENST00000369359.4_Silent_p.L586L|PDE4DIP_ENST00000313382.9_Silent_p.L515L|PDE4DIP_ENST00000530740.1_Silent_p.L586L|PDE4DIP_ENST00000313431.9_Silent_p.L612L|PDE4DIP_ENST00000369354.3_Silent_p.L449L|PDE4DIP_ENST00000369356.4_Silent_p.L449L|PDE4DIP_ENST00000369349.3_Silent_p.L449L|PDE4DIP_ENST00000479408.2_Silent_p.L236L|PDE4DIP_ENST00000369351.3_Silent_p.L449L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	449					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCACCTGAAGCAACTGCTCCT	0.403000			T	PDGFRB	MPD								343	1497					0	0	0.048971	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962682	73962682	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chrX:73962682C>G	ENST00000055682.6	-	3	2321	c.1710G>C	c.(1708-1710)ttG>ttC	p.L570F		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GATTCTCACTCAAATTCACTG	0.418000													39	56					0	0	0.098360	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227204728	227204728	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:227204728C>G	ENST00000366769.3	-	32	5825	c.4534G>C	c.(4534-4536)Gaa>Caa	p.E1512Q	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.E1525Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.E1492Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.E1431Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.E1547Q|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.E1484Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.E1512Q	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1525					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGATGTTTCAGGTACTACC	0.363000													60	103					0	0	0.048971	0	0
TGM4	7047	broad.mit.edu	37	3	44945406	44945406	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr3:44945406G>A	ENST00000296125.4	+	9	1070	c.1002G>A	c.(1000-1002)atG>atA	p.M334I		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	334					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATGCCTGGATGAAGCGACCGG	0.617000													30	70					0	0	0.059317	0	0
ACTB	60	broad.mit.edu	37	7	5567464	5567464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:5567464G>A	ENST00000331789.5	-	6	1234	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	348					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGTGGACAGCGAGGCCAGGAT	0.587000													17	104					0	0	0.049695	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834978	27834978	+	Silent	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr6:27834978G>C	ENST00000331442.3	-	1	381	c.330C>G	c.(328-330)ctC>ctG	p.L110L		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	110	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCTTCTTGTTGAGTTTAAAGG	0.587000													49	187					0	0	0.048971	0	0
TMEM171	134285	broad.mit.edu	37	5	72419557	72419557	+	Silent	SNP	C	C	T			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:72419557C>T	ENST00000454765.2	+	2	830	c.357C>T	c.(355-357)ttC>ttT	p.F119F	TMEM171_ENST00000287773.5_Silent_p.F119F			Q8WVE6	TM171_HUMAN	transmembrane protein 171	119						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GGTTTCTGTTCTTGACAAGCG	0.587000													28	71					0	0	0.037714	0	0
C9orf131	138724	broad.mit.edu	37	9	35044993	35044993	+	Silent	SNP	C	C	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr9:35044993C>G	ENST00000312292.5	+	2	2414	c.2367C>G	c.(2365-2367)ctC>ctG	p.L789L	C9orf131_ENST00000354479.5_Silent_p.L716L|C9orf131_ENST00000421362.2_Silent_p.L741L	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	789										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCTGAAACTCAGGCTGAAGA	0.567000													103	173					0	0	0.048971	0	0
RAD21	5885	broad.mit.edu	37	8	117870623	117870623	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:117870623C>A	ENST00000297338.2	-	5	736	c.449G>T	c.(448-450)gGg>gTg	p.G150V	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	150					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ACTGATGTTCCCAACTTCTTC	0.318000													24	162					3.01185e-09	3.147e-09	0.091800	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144871840	144871840	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:144871840G>C	ENST00000369359.4	-	35	5568	c.5530C>G	c.(5530-5532)Cag>Gag	p.Q1844E	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q1793E|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q1708E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1708E|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1708					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AATGGTGCCTGAGGAAGGCTA	0.507000			T	PDGFRB	MPD								7	168					0	0	0.029380	0	0
FAM168B	130074	broad.mit.edu	37	2	131812980	131812980	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:131812980G>A	ENST00000409185.1	-	5	447	c.340C>T	c.(340-342)Cac>Tac	p.H114Y	FAM168B_ENST00000389915.3_Missense_Mutation_p.H114Y	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	114										endometrium(3)|lung(2)	5						TGGATGACGTGAGGAGGTGCT	0.617000													64	69					0	0	0.048971	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059043	152059044	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:152059043_152059044insG	ENST00000368806.1	-	3	1178_1179	c.1114_1115insC	c.(1114-1116)ctgfs	p.L372fs		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	372							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTGGACTGGCAGGTCCTTTGTT	0.465													7	949	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				9	176	---	---	---	---					
RPLP0P6	220717	broad.mit.edu	37	2	38710012	38710013	+	RNA	INS	-	-	A	rs71402229		TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr2:38710012_38710013insA	ENST00000417039.1	-	0	696																											CTTACTTCTTtaaaaaataaat	0.252													3	4	---	---	---	---					
UFSP2	55325	broad.mit.edu	37	4	186329155	186329156	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr4:186329155_186329156insTG	ENST00000264689.6	-	9	1171_1172	c.1055_1056insCA	c.(1054-1056)ggafs	p.G352fs		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	352						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CCTCAATAGATCCAATCCATTG	0.391													23	44	---	---	---	---					
UBLCP1	134510	broad.mit.edu	37	5	158702181	158702183	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr5:158702181_158702183delATT	ENST00000296786.6	+	8	937_939	c.611_613delATT	c.(610-615)aattat>aat	p.Y205del		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	205	FCP1 homology.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAAATGCAAATTATAAGATTAC	0.325													24	61	---	---	---	---					
POM121	9883	broad.mit.edu	37	7	72410394	72410395	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr7:72410394_72410395delAC	ENST00000395270.1	+	11	1696_1697	c.655_656delAC	c.(655-657)acafs	p.T220fs	POM121_ENST00000257622.4_Frame_Shift_Del_p.T220fs|POM121_ENST00000446813.1_Frame_Shift_Del_p.T220fs|POM121_ENST00000358357.3_Frame_Shift_Del_p.T220fs|POM121_ENST00000434423.2_Frame_Shift_Del_p.T485fs	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	485	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGCTGCAGATACAACCCCAAGG	0.480													115	181	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													10	434	---	---	---	---					
AGO2	27161	broad.mit.edu	37	8	141549532	141549532	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr8:141549532delC	ENST00000220592.5	-	16	2168	c.2056delG	c.(2056-2058)gccfs	p.A686fs	AGO2_ENST00000519980.1_Frame_Shift_Del_p.A686fs	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		TCACGGATGGCCAGCAACTCG	0.572													25	112	---	---	---	---					
NXF1	10482	broad.mit.edu	37	11	62560155	62560157	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:62560155_62560157delGTT	ENST00000532297.1	-	21	2406_2408	c.1777_1779delAAC	c.(1777-1779)aacdel	p.N593del	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_In_Frame_Del_p.N593del|NXF1_ENST00000533048.1_5'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	593	TAP-C.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTAGTCCCAGTTGTTGTCCTGA	0.502													22	67	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113102975	113102975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr11:113102975delC	ENST00000316851.7	+	10	1294	c.1294delC	c.(1294-1296)cccfs	p.P432fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Del_p.P441fs|NCAM1_ENST00000533760.1_Frame_Shift_Del_p.P314fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	442	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATTTGCCTATCCCAGTGCCAC	0.517													17	36	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49427929	49427933	+	Frame_Shift_Del	DEL	CGGCC	CGGCC	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr12:49427929_49427933delCGGCC	ENST00000301067.7	-	38	10656_10660	c.10657_10661delGGCCG	c.(10657-10662)ggccgtfs	p.GR3553fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G3283D(1)|p.G3553D(1)									TGGGAACTCACGGCCAGCTTTTTTG	0.541													38	60	---	---	---	---					
FANCM	57697	broad.mit.edu	37	14	45623913	45623913	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr14:45623913delA	ENST00000267430.5	+	7	1282	c.1197delA	c.(1195-1197)tcafs	p.S399fs	FANCM_ENST00000556036.1_Frame_Shift_Del_p.S399fs|FANCM_ENST00000542564.2_Frame_Shift_Del_p.S373fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	399					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGACACGGTCAAAAAATGAAC	0.289								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				34	39	---	---	---	---					
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													10	15	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81253526	81253527	+	RNA	INS	-	-	TTATT	rs140827348	by1000genomes	TCGA-DK-A1AD-01A-11D-A13W-08	TCGA-DK-A1AD-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32398d56-8668-41b1-9c0b-c6aea6e3e787	c0ce73ec-2494-4119-afc7-94e51b4a3a29	g.chr16:81253526_81253527insTTATT	ENST00000337114.4	-	0	301				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ttagacatgaattatttaatcc	0.391													4	8	---	---	---	---