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
C16orf62	57020	broad.mit.edu	37	16	19627503	19627503	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr16:19627503C>T	ENST00000438132.3	+	13	1406	c.1358C>T	c.(1357-1359)aCg>aTg	p.T453M	C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000251143.5_Missense_Mutation_p.T364M|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000448695.1_Missense_Mutation_p.T214M|C16orf62_ENST00000543152.1_Missense_Mutation_p.T113M	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	364						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCCTCCTTACGTTCAAACAG	0.403000													20	27					0	0	1	0	0
SNTB2	6645	broad.mit.edu	37	16	69334794	69334794	+	Silent	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr16:69334794G>A	ENST00000336278.4	+	7	1628	c.1590G>A	c.(1588-1590)tcG>tcA	p.S530S	RP11-343C2.11_ENST00000570054.2_Intron	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	530	Calmodulin-binding (By similarity).|SU.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CGTTTTTATCGGCCAAAGTCA	0.423000													11	17					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41554000	41554000	+	Silent	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr8:41554000G>A	ENST00000396942.1	-	26	2924	c.2841C>T	c.(2839-2841)acC>acT	p.T947T	ANK1_ENST00000396945.1_Silent_p.T947T|ANK1_ENST00000379758.2_Silent_p.T947T|ANK1_ENST00000265709.8_Silent_p.T988T|ANK1_ENST00000352337.4_Silent_p.T947T|ANK1_ENST00000289734.7_Silent_p.T947T|ANK1_ENST00000347528.4_Silent_p.T947T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	947	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGTGATGCGGGTGGGCGCTG	0.682000													8	20					0	0	1	0	0
IGLV11-55	28770	broad.mit.edu	37	22	22556334	22556334	+	RNA	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr22:22556334G>A	ENST00000390286.2	+	0	160																											CCTCAGTGTTGGTGGTAAAAA	0.587000											OREG0026354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	24					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107299072	107299072	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr9:107299072G>A	ENST00000374781.2	-	1	65	c.23C>T	c.(22-24)aCt>aTt	p.T8I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GAAACAAACAGTACAAATTAA	0.353000													19	14					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2181068	2181068	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr4:2181068G>T	ENST00000511885.2	-	8	1499	c.1146C>A	c.(1144-1146)aaC>aaA	p.N382K	POLN_ENST00000382865.1_Missense_Mutation_p.N382K|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	382					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CATATGTGCTGTTCACTTTAA	0.328000								DNA polymerases (catalytic subunits)					23	36					2.44723e-14	2.66432e-14	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196737065	196737065	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr2:196737065C>T	ENST00000312428.6	-	40	6642	c.6542G>A	c.(6541-6543)cGt>cAt	p.R2181H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2181	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAGAAATCACGGAGGTTGAA	0.393000													39	47					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317908	31317908	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr5:31317908C>T	ENST00000265071.2	+	11	2024	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	CDH6_ENST00000514738.1_Missense_Mutation_p.R532W	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	587	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTGACTGTCCGGGTCTGTGC	0.557000													21	22					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120182732	120182732	+	Silent	SNP	C	C	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chrX:120182732C>G	ENST00000328078.1	+	1	1271	c.1194C>G	c.(1192-1194)gcC>gcG	p.A398A		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	398					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GAGTCAAAGCCAAGATCATTG	0.473000													114	13					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059349	79059349	+	Silent	SNP	G	G	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr15:79059349G>T	ENST00000388820.4	-	19	3114	c.2904C>A	c.(2902-2904)ctC>ctA	p.L968L	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	968	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CATTGGTGCAGAGGACATTTC	0.662000													10	17					3.07112e-06	3.09404e-06	1	1	0
PDS5A	23244	broad.mit.edu	37	4	39839541	39839541	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr4:39839541T>A	ENST00000303538.8	-	32	4484	c.3945A>T	c.(3943-3945)aaA>aaT	p.K1315N		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1315					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GTTTGGGTGCTTTGGCATTAC	0.438000													6	51					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403349	69403349	+	Silent	SNP	C	C	T	rs146629248	byFrequency	TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr4:69403349C>T	ENST00000317746.2	-	6	1629	c.1587G>A	c.(1585-1587)agG>agA	p.R529R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	529					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R529R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ATAACTAATCCCTTTTCTTCT	0.408000													3	46					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42180741	42180741	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr22:42180741C>T	ENST00000401548.3	+	26	3339	c.3299C>T	c.(3298-3300)tCg>tTg	p.S1100L	MEI1_ENST00000400107.1_Missense_Mutation_p.S433L|MEI1_ENST00000300398.4_Missense_Mutation_p.S108L|MEI1_ENST00000476893.1_3'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1100							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGCGAATGTCGCAAGTCCGG	0.622000													13	1					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964416	94964416	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr14:94964416T>A	ENST00000341228.2	-	3	1114	c.319A>T	c.(319-321)Atg>Ttg	p.M107L	SERPINA12_ENST00000556881.1_Missense_Mutation_p.M107L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	107					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTTTCTGGCATCTTTCTGAAG	0.522000													28	38					0	0	1	0	0
ATP5F1	515	broad.mit.edu	37	1	111998782	111998782	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr1:111998782T>C	ENST00000369722.3	+	4	904	c.298T>C	c.(298-300)Ttc>Ctc	p.F100L	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.F39L	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	100					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGCAGAGACCTTCACTGCCCT	0.378000													4	93					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180057240	180057240	+	Silent	SNP	A	A	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr5:180057240A>G	ENST00000261937.6	-	4	576	c.498T>C	c.(496-498)aaT>aaC	p.N166N	FLT4_ENST00000393347.3_Silent_p.N166N|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.N166N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	166	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGCGTGACATTGAGGCCGG	0.637000													7	16					0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153295962	153295962	+	Silent	SNP	C	C	A	rs61752383		TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chrX:153295962C>A	ENST00000303391.6	-	4	1566	c.1317G>T	c.(1315-1317)gcG>gcT	p.A439A	MECP2_ENST00000453960.2_Silent_p.A451A	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	439			A -> T.		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGTGGCAACCGCGGGCTGAG	0.602000													105	9					6.21867e-57	7.42939e-57	1	1	0
FREM2	341640	broad.mit.edu	37	13	39432153	39432153	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr13:39432153C>A	ENST00000280481.7	+	13	7414	c.7198C>A	c.(7198-7200)Cct>Act	p.P2400T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2400					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTCTGGCTATCCTGTCATCTG	0.373000													36	38					4.65686e-17	5.19567e-17	1	1	0
GRIN2D	2906	broad.mit.edu	37	19	48919274	48919274	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr19:48919274G>T	ENST00000263269.3	+	7	1685	c.1597G>T	c.(1597-1599)Gca>Tca	p.A533S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	533						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTACCAGCGCGCAGACATGGC	0.672000													22	17					5.35356e-11	5.69079e-11	1	1	0
AK9	221264	broad.mit.edu	37	6	109965892	109965892	+	Splice_Site	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr6:109965892C>T	ENST00000424296.2	-	9	836		c.e9-1		AK9_ENST00000368948.2_Splice_Site|AK9_ENST00000341338.6_Splice_Site|AK9_ENST00000285397.5_Splice_Site	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		CCATTACTTCCTGCAGATAAT	0.338000													39	36					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100282220	100282220	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr7:100282220C>A	ENST00000275732.5	-	13	2691	c.1482G>T	c.(1480-1482)gaG>gaT	p.E494D		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	494	GYF.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					ACTCTGCCATCTCCTGTGTCG	0.617000													19	38					2.37509e-13	2.5651e-13	1	1	0
PYGB	5834	broad.mit.edu	37	20	25277132	25277132	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr20:25277132C>T	ENST00000216962.4	+	20	2616	c.2506C>T	c.(2506-2508)Ccg>Tcg	p.P836S	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	836				IPPPNIPRD -> LQHLPHPEWESGGATCWAPPELCTHLAM Y (in Ref. 1; AAA59597).	glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CCTGCAGATCCCGCCCCCCAA	0.602000													15	20					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	30143332	30143332	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr2:30143332C>T	ENST00000389048.3	-	1	1100	c.194G>A	c.(193-195)cGt>cAt	p.R65H	ALK_ENST00000431873.1_Missense_Mutation_p.R65H	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	65					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGCGTAGACACGGAAGAGCGA	0.701000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	6					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55912316	55912316	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr7:55912316G>A	ENST00000388975.3	-	4	387	c.271C>T	c.(271-273)Ctt>Ttt	p.L91F	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	91					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAATTTGAAGTCCAACATTT	0.363000													41	38					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24522981	24522981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr2:24522981G>A	ENST00000355123.4	-	12	1584	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.R381*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.R381*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	381					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTGGCGTCGCTTTTCCAGC	0.463000													15	118					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216498898	216498898	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr1:216498898C>T	ENST00000366943.2	-	6	1278	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	USH2A_ENST00000366942.3_Missense_Mutation_p.A298T|USH2A_ENST00000307340.3_Missense_Mutation_p.A298T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	298	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTGATTGGGCATGCAATCTG	0.502000										HNSCC(13;0.011)			13	16					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44171937	44171937	+	Translation_Start_Site	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr17:44171937G>A	ENST00000393476.3	-	0	1890				KANSL1_ENST00000575318.1_Missense_Mutation_p.R474C|KANSL1_ENST00000572904.1_Missense_Mutation_p.R474C|KANSL1_ENST00000432791.1_Missense_Mutation_p.R474C|KANSL1_ENST00000574590.1_Missense_Mutation_p.R474C|KANSL1_ENST00000262419.6_Missense_Mutation_p.R474C			Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1							MLL1 complex	protein binding										TTATTAGCACGTATCTGTTTG	0.443000													30	78					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	860412	860412	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr20:860412C>T	ENST00000381922.3	-	6	1133	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R344Q	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	344	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.R344L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTTCCAGTTCCGCTGAAAATT	0.607000													10	26					0	0	1	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852497	31852497	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr21:31852497C>A	ENST00000390689.2	-	1	166	c.140G>T	c.(139-141)gGc>gTc	p.G47V		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	47	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AAAGCCAGAGCCATATCCGTA	0.582000													85	112					3.89792e-41	4.61596e-41	1	1	0
FOXG1	2290	broad.mit.edu	37	14	29237849	29237849	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr14:29237849C>T	ENST00000382535.3	+	2	1733	c.1364C>T	c.(1363-1365)tCt>tTt	p.S455F	FOXG1_ENST00000313071.4_Missense_Mutation_p.S455F			P55316	FOXG1_HUMAN	forkhead box G1	455					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCCTGTGAGTCTTTAAGACCC	0.567000													29	28					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10106108	10106108	+	Silent	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr3:10106108G>A	ENST00000287647.3	+	22	2109	c.2016G>A	c.(2014-2016)ccG>ccA	p.P672P	FANCD2_ENST00000419585.1_Silent_p.P672P|FANCD2_ENST00000383806.1_Silent_p.P672P|FANCD2_ENST00000383807.1_Silent_p.P672P	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	672					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTGTTGTTCCGGAAGGGTAGG	0.458000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	30					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922629	24922629	+	Missense_Mutation	SNP	G	G	T	rs72691546	byFrequency	TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr15:24922629G>T	ENST00000329468.2	+	1	2089	c.1615G>T	c.(1615-1617)Ggg>Tgg	p.G539W		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCCTTCCACCGGGACCTCAGT	0.522000													56	62					2.53126e-37	2.94586e-37	1	1	0
EPO	2056	broad.mit.edu	37	7	100320428	100320428	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr7:100320428C>T	ENST00000252723.2	+	4	569	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	130					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CAGTGGCCTTCGCAGCCTCAC	0.612000													18	10					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137080374	137080374	+	Silent	SNP	T	T	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr7:137080374T>A	ENST00000453654.2	-	32	2597	c.2058A>T	c.(2056-2058)gcA>gcT	p.A686A	DGKI_ENST00000288490.5_Silent_p.A1017A|DGKI_ENST00000446122.1_Silent_p.A999A|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Silent_p.A1030A			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GAGATGCTCCTGCATCCACCA	0.562000													13	19					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73159898	73159898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr14:73159898G>A	ENST00000541685.1	-	7	640	c.628C>T	c.(628-630)Cga>Tga	p.R210*	DPF3_ENST00000546183.1_Nonsense_Mutation_p.R220*|DPF3_ENST00000556509.1_Nonsense_Mutation_p.R210*|DPF3_ENST00000557704.1_5'UTR	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	210					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGCCCCGGTCGGTTCTTGTAG	0.537000													24	21					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62758578	62758578	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr4:62758578T>A	ENST00000512091.2	+	9	2228	c.1481T>A	c.(1480-1482)cTc>cAc	p.L494H	LPHN3_ENST00000504896.1_Missense_Mutation_p.L494H|LPHN3_ENST00000508946.1_Missense_Mutation_p.L494H|LPHN3_ENST00000507625.1_Missense_Mutation_p.L562H|LPHN3_ENST00000511324.1_Missense_Mutation_p.L562H|LPHN3_ENST00000514591.1_Missense_Mutation_p.L494H|LPHN3_ENST00000509896.1_Missense_Mutation_p.L562H|LPHN3_ENST00000514996.1_Missense_Mutation_p.L494H|LPHN3_ENST00000508693.1_Missense_Mutation_p.L562H|LPHN3_ENST00000506720.1_Missense_Mutation_p.L562H|LPHN3_ENST00000514157.1_Missense_Mutation_p.L494H|LPHN3_ENST00000506746.1_Missense_Mutation_p.L562H|LPHN3_ENST00000507164.1_Missense_Mutation_p.L562H|LPHN3_ENST00000545650.1_Missense_Mutation_p.L494H|LPHN3_ENST00000506700.1_Missense_Mutation_p.L494H			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATCCCAGCTCTCGAAGAGAGC	0.512000													13	11					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48616696	48616696	+	Silent	SNP	G	G	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr3:48616696G>T	ENST00000328333.8	-	61	5429	c.5322C>A	c.(5320-5322)ccC>ccA	p.P1774P	COL7A1_ENST00000454817.1_Silent_p.P1774P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1774	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGCCCAGGGGGACCCCGGT	0.612000													12	19					2.80697e-09	2.91493e-09	1	1	0
WDR53	348793	broad.mit.edu	37	3	196281409	196281409	+	Silent	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr3:196281409G>A	ENST00000332629.5	-	4	1317	c.750C>T	c.(748-750)ctC>ctT	p.L250L	WDR53_ENST00000429115.1_Silent_p.L89L|WDR53_ENST00000433160.1_Silent_p.L91L	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	250										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		AGGATTCTGGGAGAAAGCAGA	0.463000													17	71					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131719	82131719	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr16:82131719A>G	ENST00000199936.4	+	5	1035	c.842A>G	c.(841-843)aAg>aGg	p.K281R	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	281					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	AAGCTGGAGAAGGACATTCTG	0.537000													19	14					0	0	1	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852498	31852498	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr21:31852498C>A	ENST00000390689.2	-	1	165	c.139G>T	c.(139-141)Ggc>Tgc	p.G47C		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	47	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AAGCCAGAGCCATATCCGTAG	0.582000													87	112					7.49063e-41	8.79335e-41	1	1	0
FGFR3	2261	broad.mit.edu	37	4	1806099	1806099	+	Missense_Mutation	SNP	A	A	G	rs121913485		TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr4:1806099A>G	ENST00000340107.4	+	9	1380	c.1124A>G	c.(1123-1125)tAt>tGt	p.Y375C	FGFR3_ENST00000481110.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000260795.2_Missense_Mutation_p.Y373C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	373			G -> C (in ACH).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.Y373C(395)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCAGTGTGTATGCAGGCATC	0.682000	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				50	60					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128490	56128490	+	Silent	SNP	A	A	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr11:56128490A>G	ENST00000303039.3	+	1	800	c.768A>G	c.(766-768)ctA>ctG	p.L256L		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GGACATTGCTATTCATGTATG	0.378000													56	46					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193879	139193879	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr5:139193879C>T	ENST00000274710.3	+	4	1151	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	316	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCTCATCGGCTGGCACG	0.647000													12	19					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788428	42788428	+	Silent	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr20:42788428G>A	ENST00000372980.3	-	2	1871	c.999C>T	c.(997-999)gaC>gaT	p.D333D		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	333					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGCGGTGGCCGTCGGGCAGCG	0.667000													8	11					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179547542	179547542	+	Silent	SNP	A	A	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr2:179547542A>G	ENST00000589042.1	-	135	33200	c.32976T>C	c.(32974-32976)taT>taC	p.Y10992Y	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Y9748Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.Y10675Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10675	Glu-rich.|Pro-rich.						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)			CATATTCTTCATATTCCTCAT	0.353000													17	29					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69959314	69959314	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr10:69959314C>G	ENST00000358913.5	+	17	3963	c.3475C>G	c.(3475-3477)Ctg>Gtg	p.L1159V	MYPN_ENST00000540630.1_Missense_Mutation_p.L1159V|MYPN_ENST00000354393.2_Missense_Mutation_p.L884V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1159	Ig-like 4.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCTTTTAGTCTGGAGCTCTC	0.517000													17	19					0	0	1	0	0
SEC11C	90701	broad.mit.edu	37	18	56824859	56824859	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr18:56824859A>G	ENST00000587834.1	+	5	959	c.487A>G	c.(487-489)Atg>Gtg	p.M163V	SEC11C_ENST00000588875.1_Intron	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	163					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				ATATGTTGGTATGGTCACCAT	0.308000													47	61					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188265	152188265	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr1:152188265G>A	ENST00000368801.2	-	3	5915	c.5840C>T	c.(5839-5841)cCt>cTt	p.P1947L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1947					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAGGGCTAGGAGACTGGCC	0.602000													25	504					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	RNA	SNP	T	T	A	rs13566		TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr1:16945409T>A	ENST00000412962.1	-	0	2110																											GCGGGATAGCTCGGTGGAGAG	0.612000													5	57					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	20005553	20005553	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr1:20005553C>T	ENST00000289753.1	+	3	1482	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	339					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GCCATGTCCACGCTGTCCCCG	0.657000													14	15					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49441764	49441764	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr12:49441764T>C	ENST00000301067.7	-	14	4219	c.4220A>G	c.(4219-4221)tAc>tGc	p.Y1407C		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTTGACACAGTAAGGGTGATA	0.557000													22	10					0	0	1	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106793667	106793667	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr7:106793667T>C	ENST00000265717.4	+	8	1148	c.889T>C	c.(889-891)Tac>Cac	p.Y297H		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	297					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CACCAAAGTATACAACGATGG	0.323000													44	51					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103400064	103400064	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr1:103400064G>T	ENST00000358392.2	-	46	3894	c.3577C>A	c.(3577-3579)Caa>Aaa	p.Q1193K	COL11A1_ENST00000370096.3_Missense_Mutation_p.Q1181K|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q1065K|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q1142K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1181	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACCTTTTTGCCCAAACATC	0.453000													9	20					1.08611e-07	1.11079e-07	1	1	0
NPR1	4881	broad.mit.edu	37	1	153652175	153652175	+	Silent	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr1:153652175C>T	ENST00000368680.3	+	1	1063	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	197					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	p.F197F(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGCACTGCTTCTTCCTCGTGG	0.662000													3	11					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109617746	109617746	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr12:109617746G>A	ENST00000338432.7	+	11	1791	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	ACACB_ENST00000377848.3_Missense_Mutation_p.V558M|ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.V558M			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	558	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGCCAAGACCGTGGGCTATGT	0.527000													19	39					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043132	20043132	+	Silent	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr16:20043132C>T	ENST00000570682.1	-	2	1287	c.987G>A	c.(985-987)ccG>ccA	p.P329P		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	329						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGAGTTTGCCGGCGAGATCC	0.473000													42	57					0	0	1	0	0
GPBP1	65056	broad.mit.edu	37	5	56546824	56546824	+	Missense_Mutation	SNP	A	A	C			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr5:56546824A>C	ENST00000424459.3	+	11	2350	c.1076A>C	c.(1075-1077)cAa>cCa	p.Q359P	GPBP1_ENST00000506184.2_Missense_Mutation_p.Q339P|GPBP1_ENST00000514387.2_Missense_Mutation_p.Q168P|GPBP1_ENST00000511209.1_Missense_Mutation_p.Q331P|GPBP1_ENST00000264779.6_Missense_Mutation_p.Q346P|GPBP1_ENST00000454432.2_Missense_Mutation_p.Q359P|GPBP1_ENST00000538707.1_Missense_Mutation_p.Q346P	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AGTACTCACCAAGAAAGGGAT	0.343000													24	35					0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198498633	198498633	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr2:198498633T>C	ENST00000295049.4	-	4	1063	c.527A>G	c.(526-528)cAt>cGt	p.H176R		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ATCTCCATCATGGTTGGTTCC	0.378000													31	47					0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	141006257	141006257	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr3:141006257A>G	ENST00000508812.1	+	4	2347	c.440A>G	c.(439-441)aAt>aGt	p.N147S	ACPL2_ENST00000393010.2_Missense_Mutation_p.N156S|ACPL2_ENST00000286353.4_Missense_Mutation_p.N156S|ACPL2_ENST00000393007.1_Missense_Mutation_p.N140S|ACPL2_ENST00000504264.1_Missense_Mutation_p.N139S|ACPL2_ENST00000502783.1_Missense_Mutation_p.N118S|RP11-438D8.2_ENST00000507698.1_RNA			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	156						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CTTTACCCAAATCACCCATTG	0.517000													4	65					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	421070	421070	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr9:421070G>A	ENST00000432829.2	+	32	4257	c.3941G>A	c.(3940-3942)cGg>cAg	p.R1314Q	DOCK8_ENST00000453981.1_Missense_Mutation_p.R1382Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.R1282Q|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.R849Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1382	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGCGCCGCCGGGCTCCAGGT	0.572000													3	57					0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71396948	71396948	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr4:71396948G>A	ENST00000339336.4	+	8	680	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	AMTN_ENST00000504451.1_Missense_Mutation_p.V183M	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	184					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CGACTTTGCAGTGACCACCCC	0.557000													9	16					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874816	80874816	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr2:80874816A>G	ENST00000466387.1	+	22	3261	c.2537A>G	c.(2536-2538)tAt>tGt	p.Y846C	CTNNA2_ENST00000402739.4_Missense_Mutation_p.Y894C|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Y801C|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Y525C|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Y846C|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Y846C|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Y880C			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	894					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAGAAGGTCTATGGGACAGCA	0.483000													52	61					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53957875	53957875	+	Missense_Mutation	SNP	A	A	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr15:53957875A>T	ENST00000396328.1	-	14	2095	c.1856T>A	c.(1855-1857)aTt>aAt	p.I619N	WDR72_ENST00000559418.1_Missense_Mutation_p.I629N|WDR72_ENST00000557913.1_Missense_Mutation_p.I616N|WDR72_ENST00000360509.5_Missense_Mutation_p.I619N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	619										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTCTGAGGCAATGGGAAGTAC	0.458000													28	30					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103577779	103577779	+	Translation_Start_Site	SNP	T	T	C			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr10:103577779T>C	ENST00000361464.3	-	1	396	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	MGEA5_ENST00000370094.3_Start_Codon_SNP_p.M1V|MGEA5_ENST00000419011.2_Start_Codon_SNP_p.M1V|MGEA5_ENST00000357797.5_Start_Codon_SNP_p.M1V|MGEA5_ENST00000439817.1_Start_Codon_SNP_p.M1V	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	1					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTCTGCACCATCCTCCTGCCC	0.701000													11	7					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56572879	56572879	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr17:56572879A>T	ENST00000323456.5	-	16	2748	c.2624T>A	c.(2623-2625)tTg>tAg	p.L875*	MTMR4_ENST00000579925.1_Nonsense_Mutation_p.L818*	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	875						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGATTTTCCAATAACTGCCC	0.473000													21	26					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121457713	121457713	+	Translation_Start_Site	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr8:121457713G>A	ENST00000305949.1	+	1	48	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	1					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGAGGAGATGGATCGGTACC	0.587000													18	33					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11132430	11132430	+	Missense_Mutation	SNP	A	A	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr19:11132430A>T	ENST00000358026.2	+	19	2930	c.2646A>T	c.(2644-2646)gaA>gaT	p.E882D	SMARCA4_ENST00000589677.1_Missense_Mutation_p.E882D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E882D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E882D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E882D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E882D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E882D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E882D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E882D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	882	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTGTGGACGAAGGTCACCGCA	0.632000			"""F, N, Mis"""		NSCLC								4	15					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047526	11047526	+	RNA	SNP	A	A	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr21:11047526A>T	ENST00000470054.1	-	0	728									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAATTCGTTGAAGACAAAAAG	0.348000													21	258					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186007165	186007165	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr1:186007165C>T	ENST00000271588.4	+	37	6078	c.5849C>T	c.(5848-5850)cCt>cTt	p.P1950L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1950L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1950	Ig-like C2-type 17.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATCCTGTGCCTGGTACATTT	0.383000													13	28					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8647486	8647486	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr17:8647486C>T	ENST00000293845.3	-	2	326	c.100G>A	c.(100-102)Gag>Aag	p.E34K	CCDC42_ENST00000539522.2_Missense_Mutation_p.E34K	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	34										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GACGCCCCCTCAACATTGGGG	0.537000													23	20					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85416068	85416068	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr11:85416068T>C	ENST00000359152.5	-	8	4644	c.4645A>G	c.(4645-4647)Aaa>Gaa	p.K1549E	SYTL2_ENST00000389960.4_Missense_Mutation_p.K679E|SYTL2_ENST00000533892.1_Missense_Mutation_p.K105E|SYTL2_ENST00000527523.1_Missense_Mutation_p.K671E|SYTL2_ENST00000524452.1_Missense_Mutation_p.K679E|SYTL2_ENST00000354566.3_Missense_Mutation_p.K1041E|SYTL2_ENST00000528231.1_Missense_Mutation_p.K703E|SYTL2_ENST00000316356.4_Missense_Mutation_p.K704E|SYTL2_ENST00000389958.3_Missense_Mutation_p.K134E|SYTL2_ENST00000529581.1_Missense_Mutation_p.K145E|SYTL2_ENST00000525423.1_Missense_Mutation_p.K1025E|SYTL2_ENST00000525702.1_Missense_Mutation_p.K145E	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	703					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTTCAATTTTATACTGAAGT	0.323000													15	15					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158736124	158736124	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr1:158736124C>G	ENST00000335094.2	-	1	368	c.349G>C	c.(349-351)Gct>Cct	p.A117P		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TAGGCCATAGCTGTCAGGAGA	0.493000													15	18					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41572350	41572350	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr22:41572350C>G	ENST00000263253.7	+	30	6098	c.4879C>G	c.(4879-4881)Cgg>Ggg	p.R1627G	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1627	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.R1627W(3)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GATGGATGGTCGGGATGCGTT	0.577000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				30	37					0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52468317	52468317	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr19:52468317T>A	ENST00000243644.4	-	5	1616	c.1389A>T	c.(1387-1389)caA>caT	p.Q463H	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	463					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CAGAAGGCACTTGTGTAGTCG	0.537000													28	27					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11501771	11501771	+	Splice_Site	SNP	C	C	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr7:11501771C>A	ENST00000423059.4	-	10	2620		c.e10-1		AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGGAGTCCCCTGCAATGAAG	0.478000										HNSCC(18;0.044)			27	28					2.79863e-10	2.95168e-10	1	1	0
MYBPC2	4606	broad.mit.edu	37	19	50962451	50962451	+	Silent	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr19:50962451C>T	ENST00000357701.5	+	23	2730	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	893	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCAGCGACTTCGACACCGTGT	0.701000													10	7					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076887	49076887	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr13:49076887C>T	ENST00000344532.3	-	11	1513	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	RCBTB2_ENST00000544492.1_Missense_Mutation_p.A90T|RCBTB2_ENST00000544904.1_3'UTR|RCBTB2_ENST00000430805.2_Missense_Mutation_p.A369T	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	364							Ran guanyl-nucleotide exchange factor activity	p.A364S(2)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACGTGACGGCGGGCGTGGCA	0.592000													13	27					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10442539	10442539	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr17:10442539C>T	ENST00000245503.5	-	14	1783	c.1399G>A	c.(1399-1401)Ggt>Agt	p.G467S	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.G467S|MYH2_ENST00000397183.2_Missense_Mutation_p.G467S	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	467	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCTCAAAACCAGCAATGTCC	0.453000													38	58					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009425	120009425	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chrX:120009425C>T	ENST00000371311.3	-	1	354	c.100G>A	c.(100-102)Gag>Aag	p.E34K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	34								p.E34K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCGCCGCCCTCCTGGTTACCA	0.721000													27	2					0	0	1	0	0
GPATCH4	54865	broad.mit.edu	37	1	156565261	156565261	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr1:156565261G>A	ENST00000368232.4	-	8	989	c.857C>T	c.(856-858)tCc>tTc	p.S286F	GPATCH4_ENST00000438976.2_Missense_Mutation_p.S291F	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	286						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCCTGAGGGACTGATTGGT	0.507000													4	145					0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23556028	23556028	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr7:23556028C>G	ENST00000297071.4	-	3	506	c.290G>C	c.(289-291)cGa>cCa	p.R97P	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	97	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						AGAATGGCTTCGGCTCCTTCG	0.438000													24	21					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455459	187455459	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr4:187455459C>T	ENST00000307161.5	-	2	638	c.437G>A	c.(436-438)tGc>tAc	p.C146Y	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	146					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GAGCACGTAGCAGAGGGAGTT	0.572000													14	18					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5434031	5434031	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr18:5434031G>A	ENST00000341928.2	-	7	1035	c.695C>T	c.(694-696)aCt>aTt	p.T232I	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T232I|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T232I|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T232I|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T232I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	232	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGACTGGACAGTGTAGGAGCC	0.527000													44	37					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155311744	155311744	+	Silent	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr3:155311744C>T	ENST00000460012.1	-	4	723	c.366G>A	c.(364-366)caG>caA	p.Q122Q	PLCH1_ENST00000340059.7_Silent_p.Q140Q|PLCH1_ENST00000414191.1_Silent_p.Q122Q|PLCH1_ENST00000447496.2_Silent_p.Q140Q|PLCH1_ENST00000334686.6_Silent_p.Q122Q|PLCH1_ENST00000494598.1_Silent_p.Q140Q			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	140	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATGGGTCCTCTGCCTTTTGG	0.493000													11	8					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102511020	102511020	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr14:102511020C>T	ENST00000360184.4	+	72	13155	c.12991C>T	c.(12991-12993)Ctc>Ttc	p.L4331F	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4331					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGAGAGAGTCCTCCTTACCAC	0.657000													22	35					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118016970	118016970	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr12:118016970C>T	ENST00000425217.1	-	7	1246	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I	KSR2_ENST00000339824.5_Missense_Mutation_p.V427I|KSR2_ENST00000302438.5_Missense_Mutation_p.V124I|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	427					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCCACAGACTGTGCACGTC	0.473000													6	4					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43724489	43724489	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr15:43724489T>C	ENST00000263801.3	-	17	3815	c.3563A>G	c.(3562-3564)aAc>aGc	p.N1188S	TP53BP1_ENST00000382044.4_Missense_Mutation_p.N1193S|TP53BP1_ENST00000450115.2_Missense_Mutation_p.N1193S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.N1193S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1188					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTTCCAAAGTTCTGGTCCAC	0.517000								Other conserved DNA damage response genes					28	23					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88036057	88036057	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr4:88036057C>G	ENST00000307808.6	+	11	2471	c.2051C>G	c.(2050-2052)tCa>tGa	p.S684*	AFF1_ENST00000395146.4_Nonsense_Mutation_p.S691*|AFF1_ENST00000544085.1_Nonsense_Mutation_p.S322*	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	684						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGGCTCTCTCAGGCCCAGAA	0.637000													14	23					0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931260	150931260	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr3:150931260A>G	ENST00000309170.3	-	3	1157	c.845T>C	c.(844-846)cTa>cCa	p.L282P	P2RY14_ENST00000424796.2_Missense_Mutation_p.L282P|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	282						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAGATAGTAGCAGAGTGAA	0.383000													43	44					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233216	28233216	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr10:28233216C>A	ENST00000305242.5	-	12	1770	c.1678G>T	c.(1678-1680)Gcg>Tcg	p.A560S	ARMC4_ENST00000537576.1_Missense_Mutation_p.A252S|ARMC4_ENST00000545014.1_Missense_Mutation_p.A85S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	560							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCAACATTCGCGATAGTCTCG	0.468000													21	21					3.51602e-12	3.76716e-12	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52391974	52391974	+	Silent	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr3:52391974G>A	ENST00000420323.2	+	24	4302	c.4041G>A	c.(4039-4041)acG>acA	p.T1347T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1347	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGACCCCACGGCCGTGCAGC	0.622000													9	8					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			55	59					9.59835e-30	1.1075e-29	1	1	0
EOMES	8320	broad.mit.edu	37	3	27761814	27761814	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr3:27761814C>A	ENST00000295743.4	-	2	1087	c.884G>T	c.(883-885)cGc>cTc	p.R295L	EOMES_ENST00000449599.1_Missense_Mutation_p.R295L|EOMES_ENST00000537516.1_5'UTR|EOMES_ENST00000461503.1_5'UTR			O95936	EOMES_HUMAN	eomesodermin	295					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGGAAACATGCGCCTGTGCAA	0.532000													24	34					1.55469e-16	1.70637e-16	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79438642	79438642	+	Splice_Site	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr9:79438642C>T	ENST00000376718.3	-	6	785	c.662G>A	c.(661-663)gGt>gAt	p.G221D	PRUNE2_ENST00000376713.3_Splice_Site_p.G221D|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	221					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AATACTTAAACCTGTGGATGA	0.328000													24	28					0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16338361	16338361	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr19:16338361G>A	ENST00000291439.3	+	7	1125	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	AP1M1_ENST00000541844.1_Missense_Mutation_p.G154S|AP1M1_ENST00000590756.1_Missense_Mutation_p.G154S|AP1M1_ENST00000429941.2_Missense_Mutation_p.G226S|AP1M1_ENST00000444449.2_Missense_Mutation_p.G238S	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	226	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GACCCCAGGCGGCAAAAGCAA	0.607000													28	34					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48173143	48173143	+	Silent	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr16:48173143G>A	ENST00000311303.3	-	5	1107	c.762C>T	c.(760-762)taC>taT	p.Y254Y	ABCC12_ENST00000416054.1_Silent_p.Y254Y|ABCC12_ENST00000448542.1_Silent_p.Y254Y	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	254	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGAAAAAGGCGTACGCCGCAC	0.473000													3	58					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76715204	76715204	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr6:76715204C>T	ENST00000369950.3	-	10	1124	c.935G>A	c.(934-936)aGt>aAt	p.S312N	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	312	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGCTTCTGCACTGTGTCTCTT	0.463000													32	33					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169814	113169814	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr9:113169814T>C	ENST00000401783.2	-	38	8402	c.8066A>G	c.(8065-8067)tAt>tGt	p.Y2689C	SVEP1_ENST00000297826.5_Missense_Mutation_p.Y615C|SVEP1_ENST00000374469.1_Missense_Mutation_p.Y2666C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2689	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGAAGTTCATATCCTGGATT	0.453000													51	56					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537635	24537635	+	Missense_Mutation	SNP	A	A	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr5:24537635A>T	ENST00000264463.4	-	3	887	c.380T>A	c.(379-381)cTa>cAa	p.L127Q		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	127	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTGTGCGCGTAGAGTATAAAA	0.408000										HNSCC(23;0.051)			37	44					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548085	52548085	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr13:52548085G>A	ENST00000242839.4	-	2	1427	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	ATP7B_ENST00000344297.5_Missense_Mutation_p.A424V|ATP7B_ENST00000542656.1_Missense_Mutation_p.A392V|ATP7B_ENST00000448424.2_Missense_Mutation_p.A424V|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.A424V|ATP7B_ENST00000400370.3_Missense_Mutation_p.A424V|ATP7B_ENST00000400366.3_Missense_Mutation_p.A313V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	424	HMA 4.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AACGACTGAAGCCTCAAATCC	0.468000									Wilson disease				25	30					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81746400	81746400	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr7:81746400C>A	ENST00000356860.3	-	6	824	c.486G>T	c.(484-486)caG>caT	p.Q162H	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Q162H|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.Q162H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	162						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTGCTGCGTGCTGATAAGATA	0.403000													28	34					1.2476e-16	1.38054e-16	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2044115	2044115	+	Silent	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr8:2044115G>A	ENST00000262113.4	+	18	2295	c.2154G>A	c.(2152-2154)acG>acA	p.T718T	MYOM2_ENST00000523438.1_Silent_p.T143T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	718	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATGGGATTACGCTCCTCAACT	0.617000													33	64					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31022288	31022288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr20:31022288C>A	ENST00000375687.4	+	13	2197	c.1773C>A	c.(1771-1773)taC>taA	p.Y591*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.Y586*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	591					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.Y591fs*1(7)|p.Y591*(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGCCCACTTACCAGATATGCC	0.522000			"""F, N, Mis"""		"""MDS, CMML"""								34	43					8.16277e-20	9.26029e-20	1	1	0
AXDND1	126859	broad.mit.edu	37	1	179462008	179462008	+	Silent	SNP	A	A	G			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr1:179462008A>G	ENST00000367618.3	+	20	2697	c.2310A>G	c.(2308-2310)gtA>gtG	p.V770V		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	770										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AAGGGATGGTAACAGCAATGG	0.378000													19	35					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34100801	34100801	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr6:34100801C>T	ENST00000538487.2	-	2	916	c.473G>A	c.(472-474)gGg>gAg	p.G158E	GRM4_ENST00000374181.4_Missense_Mutation_p.G158E|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GACCGAGCTCCCTGAAGCACC	0.617000													6	6					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710644	140710644	+	Silent	SNP	C	C	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr5:140710644C>A	ENST00000517417.1	+	1	393	c.393C>A	c.(391-393)ccC>ccA	p.P131P	PCDHGA1_ENST00000378105.3_Silent_p.P131P	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACACTCCCCAATTCCAGT	0.388000													63	91					3.84483e-29	4.39875e-29	1	1	0
EIF2A	83939	broad.mit.edu	37	3	150290078	150290078	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr3:150290078G>A	ENST00000460851.1	+	10	1254	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q	EIF2A_ENST00000383043.3_Missense_Mutation_p.R168Q|EIF2A_ENST00000406576.3_Missense_Mutation_p.R321Q|EIF2A_ENST00000487799.1_Missense_Mutation_p.R357Q|SERP1_ENST00000479209.1_Intron|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000273435.5_Missense_Mutation_p.R377Q			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	382					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCCAGGTTACGGGTTAATAAT	0.408000													7	14					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100175288	100175288	+	Splice_Site	SNP	T	T	C			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr7:100175288T>C	ENST00000310300.6	-	9	1167	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	372					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCTCTCACCTCCACAGTGCC	0.642000													13	22					0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72192385	72192385	+	Splice_Site	SNP	T	T	C			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr5:72192385T>C	ENST00000337273.5	+	19	2668		c.e19+2		TNPO1_ENST00000454282.1_Splice_Site|TNPO1_ENST00000523768.1_Splice_Site|TNPO1_ENST00000506351.2_Splice_Site	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1						interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TTCAAATGGGTAAGATGTTTT	0.478000													9	14					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86522363	86522363	+	Silent	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr7:86522363C>T	ENST00000450689.2	-	20	2924	c.2739G>A	c.(2737-2739)ttG>ttA	p.L913L	KIAA1324L_ENST00000416314.1_Silent_p.L746L|KIAA1324L_ENST00000444627.1_Silent_p.L842L|KIAA1324L_ENST00000297222.6_Silent_p.L673L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	913						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTTTCTCAGGCAAAGAAATTC	0.408000													48	69					0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109260913	109260913	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr8:109260913T>C	ENST00000220849.5	-	1	81	c.19A>G	c.(19-21)Act>Gct	p.T7A	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	7	Sufficient for interaction with EPAS1.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			ATGCGAGTAGTCAAGTCGTAC	0.502000													20	20					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957933	35957933	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr9:35957933G>A	ENST00000341959.2	-	1	218	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GTGTGCAGGCGGGAGTCAAGG	0.552000													12	18					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8619448	8619448	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr19:8619448T>C	ENST00000338257.8	-	4	506	c.239A>G	c.(238-240)tAt>tGt	p.Y80C		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	80	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGATTCTCATACTGGGCCTG	0.612000													15	34					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46967063	46967063	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr4:46967063C>T	ENST00000264318.3	-	8	2040	c.1058G>A	c.(1057-1059)aGg>aAg	p.R353K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	353					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGATGTCTTCCTTTTGGCTTT	0.463000													14	35					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28157484	28157484	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr16:28157484G>A	ENST00000304658.5	-	9	1765	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	XPO6_ENST00000565698.1_Missense_Mutation_p.T408M	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	422					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CAAAAACAGCGTCCAGATATC	0.348000													27	33					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421955	153421955	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chrX:153421955G>A	ENST00000369951.4	+	5	991	c.931G>A	c.(931-933)Gcc>Acc	p.A311T		NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	311					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCTACTTTGCCAAAAGTGC	0.537000													88	11					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3795301	3795301	+	Silent	SNP	G	G	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr16:3795301G>A	ENST00000262367.5	-	22	4700	c.3891C>T	c.(3889-3891)caC>caT	p.H1297H	CREBBP_ENST00000382070.3_Silent_p.H1259H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1297	Cys/His-rich.				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)		TGATGTCATAGTGCAGAACGC	0.537000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						9	19					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259095	89259095	+	Missense_Mutation	SNP	A	A	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr3:89259095A>T	ENST00000336596.2	+	3	464	c.239A>T	c.(238-240)aAt>aTt	p.N80I	EPHA3_ENST00000494014.1_Missense_Mutation_p.N80I|EPHA3_ENST00000452448.2_Missense_Mutation_p.N80I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	80						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGTCAAAACAATTGGCTGAGA	0.448000										TSP Lung(6;0.00050)			19	31					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11995991	11995991	+	Silent	SNP	A	A	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr8:11995991A>T	ENST00000333796.3	-	1	595	c.279T>A	c.(277-279)gcT>gcA	p.A93A	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	93					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ACTGCAGGGAAGCGTTCTCGT	0.572000													35	36					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205210954	205210954	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr1:205210954delG	ENST00000358024.3	+	2	918	c.529delG	c.(529-531)gggfs	p.G177fs	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Frame_Shift_Del_p.G99fs	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	177						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			cggcagcagcgggagcagcag	0.731													2	4	---	---	---	---					
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													3	5	---	---	---	---					
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del|MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	646	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586													7	46	---	---	---	---					
BTN2A3P	54718	broad.mit.edu	37	6	26428451	26428451	+	RNA	DEL	A	A	-	rs139821417		TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr6:26428451delA	ENST00000466808.2	+	0	1304																											gtgtctaattaaaaaaaaaaa	0.448													4	4	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146755519	146755519	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr6:146755519delC	ENST00000361719.2	+	9	3642	c.3172delC	c.(3172-3174)cccfs	p.P1058fs	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Frame_Shift_Del_p.P1058fs|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1058					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCCGGTGGTCCCGGGAACGG	0.662													27	27	---	---	---	---					
PEX2	5828	broad.mit.edu	37	8	77895784	77895784	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr8:77895784delT	ENST00000419564.2	-	4	1095	c.631delA	c.(631-633)atcfs	p.I211fs	PEX2_ENST00000522527.1_Frame_Shift_Del_p.I211fs|PEX2_ENST00000357039.4_Frame_Shift_Del_p.I211fs|PEX2_ENST00000520103.1_Frame_Shift_Del_p.I211fs	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	211					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TGGACATTGATAAGTGGTAAG	0.398													44	58	---	---	---	---					
BRINP1	1620	broad.mit.edu	37	9	121929992	121930005	+	Frame_Shift_Del	DEL	GCGCATCTGGCAGA	GCGCATCTGGCAGA	-			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr9:121929992_121930005delGCGCATCTGGCAGA	ENST00000265922.3	-	8	2104_2117	c.1643_1656delTCTGCCAGATGCGC	c.(1642-1656)atctgccagatgcgcfs	p.ICQMR548fs	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	548																	GGCTGCTGTTGCGCATCTGGCAGATGCGCATGGA	0.561													13	29	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49444513	49444525	+	Frame_Shift_Del	DEL	GGAGACAGGGCCG	GGAGACAGGGCCG	-			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr12:49444513_49444525delGGAGACAGGGCCG	ENST00000301067.7	-	11	2845_2857	c.2846_2858delCGGCCCTGTCTCC	c.(2845-2859)ccggccctgtctcctfs	p.PALSP949fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTCCCCCAAAGGAGACAGGGCCGGTGGGGCCGC	0.568													7	8	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs144931984	by1000genomes	TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607																											TAAATGaaaataaaaaaataaa	0.302													3	6	---	---	---	---					
SMPD3	55512	broad.mit.edu	37	16	68397394	68397397	+	Splice_Site	DEL	CTTA	CTTA	-			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr16:68397394_68397397delCTTA	ENST00000219334.5	-	7	2313		c.e7+1		SMPD3_ENST00000568373.1_Splice_Site|SMPD3_ENST00000563226.1_Splice_Site	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)						cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GAGCGCAGTGCTTACTTCTGCAGG	0.637													13	25	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9071452	9071452	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr19:9071452delT	ENST00000397910.4	-	3	16197	c.15994delA	c.(15994-15996)accfs	p.T5332fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5334	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGAGCTGGTTTCTTCCACA	0.532													29	29	---	---	---	---					
MED26	9441	broad.mit.edu	37	19	16687848	16687849	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr19:16687848_16687849insA	ENST00000263390.3	-	3	1054_1055	c.792_793insT	c.(790-795)catcccfs	p.P265fs	CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Ins_p.P273fs	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	265	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GGTCCCTTGGGATGGGGAGGCC	0.673													13	11	---	---	---	---					
DYRK1A	1859	broad.mit.edu	37	21	38884699	38884700	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr21:38884699_38884700insT	ENST00000339659.4	+	11	3600_3601	c.2130_2131insT	c.(2131-2133)tacfs	p.Y711fs	DYRK1A_ENST00000398960.2_Frame_Shift_Ins_p.Y720fs|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000455387.2_Frame_Shift_Ins_p.Y492fs	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A						nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GACATCCAACATACCAATTTTC	0.475													19	23	---	---	---	---					
DENND6B	414918	broad.mit.edu	37	22	50754182	50754182	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chr22:50754182delG	ENST00000413817.3	-	9	790	c.719delC	c.(718-720)ccafs	p.P240fs	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		AAGAACCACTGGGGCTGGCAG	0.627													2	4	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44913154	44913154	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZF-A9R5-01A-12D-A42E-08	TCGA-ZF-A9R5-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10436bc0-d873-4389-b9fd-008442daf7f4	3ab0d2dc-e214-44c6-9aae-955dd055a930	g.chrX:44913154delT	ENST00000377967.4	+	10	870	c.829delT	c.(829-831)ttgfs	p.L277fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.L277fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.L277fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.L277fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	277					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCAAAAGTCCTTGGAAGCAGA	0.403			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								39	6	---	---	---	---