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
TBC1D1	23216	broad.mit.edu	37	4	38016200	38016200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:38016200C>T	ENST00000261439.4	+	3	843	c.488C>T	c.(487-489)tCc>tTc	p.S163F	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S163F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	163						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CACTGCCCGTCCGAGTTCGAC	0.622000													41	68					0	0	0.00222228	0	0
PPRC1	23082	broad.mit.edu	37	10	103907120	103907120	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:103907120C>T	ENST00000278070.2	+	9	4410	c.4371C>T	c.(4369-4371)tcC>tcT	p.S1457S	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Silent_p.S424S|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1457	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGTCCAGGTCCCTCTCCCCCC	0.547000													20	28					0	0	0.00229938	0	0
OR2A5	393046	broad.mit.edu	37	7	143747527	143747527	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:143747527C>T	ENST00000408906.2	+	1	67	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCACAGAATTCATTCTCCTGG	0.502000													28	68					0	0	0.00209593	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899636	156899636	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:156899636T>A	ENST00000311946.7	+	6	1185	c.1069T>A	c.(1069-1071)Ttc>Atc	p.F357I	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.F338I	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	357						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TTCCCTGGTGTTCCCCATCTA	0.542000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	72					0	0	0.00178596	0	0
LRIG3	121227	broad.mit.edu	37	12	59272618	59272618	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:59272618G>A	ENST00000320743.3	-	14	2357	c.2071C>T	c.(2071-2073)Ctg>Ttg	p.L691L	LRIG3_ENST00000379141.4_Silent_p.L631L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	691	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGGACAGTCAGAGTTGCATTT	0.423000			T	ROS1	NSCLC								23	53					0	0	0.00332997	0	0
CACNA1C	775	broad.mit.edu	37	12	2742834	2742834	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:2742834A>C	ENST00000406454.3	+	30	3868	c.3868A>C	c.(3868-3870)Atc>Ctc	p.I1290L	CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000402845.3_Missense_Mutation_p.I1290L|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399638.1_Missense_Mutation_p.I1290L|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399644.1_Missense_Mutation_p.I1290L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.I1290L|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.I1290L|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000347598.4_Missense_Mutation_p.I1310L|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399629.1_Missense_Mutation_p.I1290L|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.I1290L			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1310					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGACTTCCTCATCGTAATTGG	0.458000													28	75					0	0	0.00283554	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16872745	16872745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:16872745G>A	ENST00000355661.3	-	8	699	c.689C>T	c.(688-690)tCc>tTc	p.S230F	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S230F|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S230F			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	230	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TACCTTAAAGGAATATTTGCG	0.507000													20	36					0	0	0.00332997	0	0
OR1A1	8383	broad.mit.edu	37	17	3119772	3119772	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:3119772C>T	ENST00000304094.1	+	1	858	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TAAATCCTTTCATCTACAGTC	0.473000													28	69					0	0	0.00127121	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21448671	21448671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:21448671C>T	ENST00000307378.6	-	11	1851	c.1131G>A	c.(1129-1131)atG>atA	p.M377I	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.M377I|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.M375I|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.M245I|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.M245I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	377					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TGAACTTCTTCATAATTAAAC	0.289000													8	21					0	0	0.000673444	0	0
CSMD2	114784	broad.mit.edu	37	1	34285384	34285384	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:34285384G>A	ENST00000373381.4	-	9	1430	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	378	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGATCCGCTTGGACCCTTGCA	0.607000													14	24					0	0	0.00316338	0	0
RHBG	57127	broad.mit.edu	37	1	156348077	156348077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:156348077C>T	ENST00000400992.2	+	4	832	c.464C>T	c.(463-465)aCc>aTc	p.T155I	RHBG_ENST00000368249.1_Missense_Mutation_p.T187I|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368246.2_Missense_Mutation_p.T187I|RHBG_ENST00000451864.2_Missense_Mutation_p.T155I|RHBG_ENST00000255013.3_Missense_Mutation_p.T118I			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	187					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ACTATCCACACCTTTGGTGCC	0.647000													32	65					0	0	0.00428921	0	0
PITPNM1	9600	broad.mit.edu	37	11	67265106	67265106	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:67265106G>A	ENST00000356404.3	-	13	2052	c.1827C>T	c.(1825-1827)ccC>ccT	p.P609P	PITPNM1_ENST00000436757.2_Silent_p.P609P|PITPNM1_ENST00000534749.1_Silent_p.P609P	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	609					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CATCTGCCAGGGGGTCCCGCA	0.622000													22	47					0	0	0.00332997	0	0
TTN	7273	broad.mit.edu	37	2	179577529	179577529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179577529C>T	ENST00000589042.1	-	94	27447	c.27223G>A	c.(27223-27225)Gaa>Aaa	p.E9075K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7831K|TTN_ENST00000591111.1_Missense_Mutation_p.E8758K|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8758							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)			AACTCCAGTTCAGCAACTGAA	0.428000													15	26					0	0	0.00316338	0	0
TRIM36	55521	broad.mit.edu	37	5	114499263	114499263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:114499263G>A	ENST00000513154.1	-	2	540	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.R84W|TRIM36_ENST00000514154.1_Intron			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	84						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.R84W(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAGGGGAGCCGAAGTCGAGGA	0.443000													23	53					0	0	0.000878237	0	0
CUL9	23113	broad.mit.edu	37	6	43153772	43153772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:43153772C>T	ENST00000252050.4	+	4	914	c.830C>T	c.(829-831)cCa>cTa	p.P277L	CUL9_ENST00000372647.2_Missense_Mutation_p.P277L|CUL9_ENST00000354495.3_Missense_Mutation_p.P277L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	277					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AATAGCAGTCCAGAGCTGGGA	0.552000													15	35					0	0	0.00316338	0	0
MME	4311	broad.mit.edu	37	3	154878182	154878182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:154878182G>A	ENST00000460393.1	+	17	1725	c.1605G>A	c.(1603-1605)tgG>tgA	p.W535*	MME_ENST00000492661.1_Nonsense_Mutation_p.W535*|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Nonsense_Mutation_p.W535*|MME_ENST00000493237.1_Nonsense_Mutation_p.W535*|MME_ENST00000462745.1_Nonsense_Mutation_p.W535*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	535					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TCTACAGGTGGATAAGTGGAG	0.323000													73	207					0	0	0.00361006	0	0
PHACTR4	65979	broad.mit.edu	37	1	28800500	28800500	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:28800500C>T	ENST00000373839.3	+	7	1519	c.1258C>T	c.(1258-1260)Cga>Tga	p.R420*	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Nonsense_Mutation_p.R430*	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	420	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCATATTCGAATCCAGCA	0.512000													28	51					0	0	0.00106085	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318902	79318902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:79318902G>A	ENST00000428286.1	-	9	7750	c.6550C>T	c.(6550-6552)Cgt>Tgt	p.R2184C	PRUNE2_ENST00000376718.3_Missense_Mutation_p.R2543C			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2543					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGTGCATGACGATCTTCATTC	0.363000													73	67					0	0	0.00361006	0	0
ANK3	288	broad.mit.edu	37	10	61835570	61835570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:61835570G>A	ENST00000280772.1	-	37	5260	c.5069C>T	c.(5068-5070)tCa>tTa	p.S1690L	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1690	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTGGCTGATGAAATGACATC	0.408000													20	39					0	0	0.00152264	0	0
CLEC3A	10143	broad.mit.edu	37	16	78062059	78062059	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:78062059C>T	ENST00000299642.4	+	2	283	c.198C>T	c.(196-198)gcC>gcT	p.A66A	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Silent_p.A57A	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	57					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AAGTCAATGCCTTGAAGGAAA	0.478000													19	43					0	0	0.000958276	0	0
FRG1	2483	broad.mit.edu	37	4	190876288	190876288	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:190876288G>A	ENST00000226798.4	+	5	636	c.414G>A	c.(412-414)tgG>tgA	p.W138*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	138					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GAGAACAATGGGAACCAGTCT	0.348000													6	104					0	0	0.00307968	0	0
BRWD3	254065	broad.mit.edu	37	X	79985494	79985494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:79985494C>T	ENST00000373275.4	-	13	1369	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	385										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCCGTTCCATCTCGACTTCCA	0.303000													11	8					0	0	0.000978159	0	0
KPRP	448834	broad.mit.edu	37	1	152733215	152733215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:152733215C>T	ENST00000368773.1	+	2	1209	c.1151C>T	c.(1150-1152)cCa>cTa	p.P384L	KPRP_ENST00000606109.1_Missense_Mutation_p.P384L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	384	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTTCTGTCCACCACGGCGT	0.637000													9	31					0	0	0.000442599	0	0
ZMYND12	84217	broad.mit.edu	37	1	42898933	42898933	+	Missense_Mutation	SNP	G	G	A	rs143355029	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:42898933G>A	ENST00000372565.3	-	7	1125	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	ZMYND12_ENST00000433602.2_Missense_Mutation_p.R176C|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	286						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTCAGGATGCGAATGGCTTCT	0.448000													64	104					0	0	0.00361006	0	0
VNN2	8875	broad.mit.edu	37	6	133072331	133072331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:133072331C>T	ENST00000326499.6	-	5	1277	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Missense_Mutation_p.G332R	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	385					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTAAAAGCTCCTAGAACGTAT	0.378000													32	60					0	0	0.00209593	0	0
ACTR1B	10120	broad.mit.edu	37	2	98275872	98275872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:98275872C>T	ENST00000289228.5	-	4	474	c.258G>A	c.(256-258)atG>atA	p.M86I		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	86						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						AGATGCGTTCCATGTCGTTCC	0.647000													59	108					0	0	0.00361006	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963740	148963740	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:148963740G>A	ENST00000434415.1	+	2	502	c.339G>A	c.(337-339)ctG>ctA	p.L113L		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	113					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			AGAGGCGGCTGGAGAATGTGG	0.647000													21	65					0	0	0.00332997	0	0
CBLN2	147381	broad.mit.edu	37	18	70205589	70205589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:70205589C>T	ENST00000269503.4	-	5	1270	c.497G>A	c.(496-498)gGc>gAc	p.G166D	CBLN2_ENST00000584764.1_Missense_Mutation_p.G50D|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000585159.1_Missense_Mutation_p.G166D|CBLN2_ENST00000581073.1_Missense_Mutation_p.G52D	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	166	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CACTGGGTAGCCATTCTGCAT	0.502000													23	53					0	0	0.000720815	0	0
NBEA	26960	broad.mit.edu	37	13	35731359	35731359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:35731359G>A	ENST00000400445.3	+	21	3330	c.2796G>A	c.(2794-2796)tgG>tgA	p.W932*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.W932*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.W932*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.W932*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	932						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AATATGAATGGGGAGGCTGGA	0.383000													27	33					0	0	0.00395357	0	0
ERLIN1	10613	broad.mit.edu	37	10	101937916	101937916	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:101937916A>C	ENST00000421367.2	-	4	2985	c.278T>G	c.(277-279)gTg>gGg	p.V93G	ERLIN1_ENST00000407654.3_Missense_Mutation_p.V93G	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	91					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		CATATTAACCACTTCTATTCG	0.358000													3	8					0	0	6.4e-05	0	0
BAI1	575	broad.mit.edu	37	8	143570778	143570778	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:143570778C>G	ENST00000517894.1	+	16	3504	c.2610C>G	c.(2608-2610)atC>atG	p.I870M	BAI1_ENST00000323289.5_Missense_Mutation_p.I870M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	870					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.I870I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTTGGAGATCGAGTTTGCCC	0.567000													16	40					0	0	0.00316338	0	0
MIR329-2	574409	broad.mit.edu	37	14	101493453	101493453	+	RNA	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:101493453G>A	ENST00000385029.1	+	0	17					NR_029968.1																						CCTGAAGAGAGGTTTTCTGGG	0.453000													19	50					0	0	0.00188189	0	0
GPR113	165082	broad.mit.edu	37	2	26534617	26534617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:26534617C>T	ENST00000333478.6	-	8	1964	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.R591Q|GPR113_ENST00000541401.1_Missense_Mutation_p.R263Q|GPR113_ENST00000311519.1_Missense_Mutation_p.R660Q	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	660					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGTTTTCGCAGCACCAG	0.547000													5	9					0	0	0.00116845	0	0
DMRTC2	63946	broad.mit.edu	37	19	42353257	42353257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:42353257G>A	ENST00000269945.3	+	6	739	c.688G>A	c.(688-690)Gga>Aga	p.G230R	DMRTC2_ENST00000596827.1_Missense_Mutation_p.G230R	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	230	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CACCTGCCCAGGATCTCACCC	0.567000													51	69					0	0	0.00361006	0	0
NLRP14	338323	broad.mit.edu	37	11	7063624	7063624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:7063624G>A	ENST00000299481.4	+	4	713	c.367G>A	c.(367-369)Gga>Aga	p.G123R		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	123					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTTAGGTGATGGAACAGAATA	0.343000													26	44					0	0	0.00127121	0	0
CD226	10666	broad.mit.edu	37	18	67531653	67531653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:67531653G>A	ENST00000280200.4	-	7	1176	c.908C>T	c.(907-909)cCc>cTc	p.P303L	CD226_ENST00000581982.1_Missense_Mutation_p.P148L|CD226_ENST00000582621.1_Missense_Mutation_p.P303L|CD226_ENST00000577287.1_Missense_Mutation_p.P148L	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	303					cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GGTAGAGATGGGACTTCTATA	0.388000													14	37					0	0	0.00244969	0	0
ASXL3	80816	broad.mit.edu	37	18	31311945	31311945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:31311945G>A	ENST00000269197.5	+	9	893	c.893G>A	c.(892-894)gGa>gAa	p.G298E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGAAGTGATGGAATTTTACGC	0.388000													21	51					0	0	0.00278032	0	0
RAB40B	10966	broad.mit.edu	37	17	80616413	80616413	+	Missense_Mutation	SNP	G	G	A	rs142445256	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:80616413G>A	ENST00000538809.2	-	5	433	c.368C>T	c.(367-369)tCg>tTg	p.S123L	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000571995.1_Silent_p.I173I			Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCAGCAGCACGATCCTGGCCA	0.657000													45	29					0	0	0.00361006	0	0
FAM115C	285966	broad.mit.edu	37	7	143417118	143417118	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:143417118C>T	ENST00000441159.2	+	3	1032	c.966C>T	c.(964-966)agC>agT	p.S322S	FAM115C_ENST00000425618.2_Silent_p.S41S|FAM115C_ENST00000411935.1_Silent_p.S158S|FAM115C_ENST00000411497.2_Silent_p.S41S|FAM115C_ENST00000357344.4_Silent_p.S322S|FAM115C_ENST00000444908.2_Silent_p.S322S|FAM115C_ENST00000409703.3_Silent_p.S158S			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	322										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						TGCAATGCAGCCTGGAGCCCC	0.572000													11	52					0	0	0.00400662	0	0
DHX37	57647	broad.mit.edu	37	12	125465048	125465048	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:125465048G>A	ENST00000308736.2	-	4	824	c.726C>T	c.(724-726)tcC>tcT	p.S242S	DHX37_ENST00000544745.1_Silent_p.S29S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	242							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCATTTCCGGGGAGCGGTTCA	0.642000													18	23					0	0	0.000958276	0	0
FOXI1	2299	broad.mit.edu	37	5	169533456	169533456	+	Silent	SNP	C	C	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:169533456C>G	ENST00000449804.2	+	1	540	c.495C>G	c.(493-495)gcC>gcG	p.A165A	FOXI1_ENST00000306268.6_Silent_p.A165A	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	165					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGCAAGGCCGGCTGGCAGA	0.612000									Pendred syndrome				5	11					0	0	0.00116845	0	0
LIPI	149998	broad.mit.edu	37	21	15524928	15524928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:15524928G>A	ENST00000344577.2	-	8	1172	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	LIPI_ENST00000536861.1_Nonsense_Mutation_p.Q362*	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	362					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATTCCAAGCTGATTTAATAAT	0.284000													8	23					0	0	0.000442599	0	0
MYLK3	91807	broad.mit.edu	37	16	46766545	46766545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:46766545C>T	ENST00000394809.4	-	4	1152	c.1037G>A	c.(1036-1038)gGg>gAg	p.G346E	MYLK3_ENST00000536476.1_Missense_Mutation_p.G5E	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	346					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGCATCTCCCCAGGAGTATC	0.607000													11	17					0	0	0.00136819	0	0
SLC6A12	6539	broad.mit.edu	37	12	306045	306045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:306045G>A	ENST00000428720.1	-	11	1822	c.1079C>T	c.(1078-1080)cCt>cTt	p.P360L	SLC6A12_ENST00000424061.2_Missense_Mutation_p.P360L|SLC6A12_ENST00000536824.1_Missense_Mutation_p.P360L|SLC6A12_ENST00000397296.2_Missense_Mutation_p.P360L|SLC6A12_ENST00000359674.4_Missense_Mutation_p.P360L	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	360					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGCCAGCCCAGGACCTGCCAG	0.577000													15	25					0	0	0.00316338	0	0
DCDC1	341019	broad.mit.edu	37	11	30928159	30928159	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:30928159G>A	ENST00000597505.1	-	28	4031	c.4032C>T	c.(4030-4032)ttC>ttT	p.F1344F	DCDC1_ENST00000339794.5_Silent_p.F423F|DCDC1_ENST00000406071.2_Silent_p.F79F			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AAATACAGAGGAATGGAACCC	0.463000													5	15					0	0	0.00116845	0	0
SCN11A	11280	broad.mit.edu	37	3	38888327	38888327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:38888327C>T	ENST00000450244.1	-	26	5432	c.5234G>A	c.(5233-5235)cGa>cAa	p.R1745Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.R1707Q|SCN11A_ENST00000302328.3_Missense_Mutation_p.R1745Q			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1745					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CATGTACTTTCGAAAGGCCTT	0.458000													32	73					0	0	0.00327116	0	0
ACTN4	81	broad.mit.edu	37	19	39214875	39214875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:39214875C>T	ENST00000252699.2	+	15	1847	c.1771C>T	c.(1771-1773)Cac>Tac	p.H591Y	ACTN4_ENST00000424234.2_Missense_Mutation_p.H201Y|ACTN4_ENST00000390009.3_Missense_Mutation_p.H372Y	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	591					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTGGCCATCCACAAGGAGGC	0.617000													10	31					0	0	0.000442599	0	0
HPS1	3257	broad.mit.edu	37	10	100185627	100185627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:100185627G>A	ENST00000325103.6	-	12	1336	c.1103C>T	c.(1102-1104)aCc>aTc	p.T368I	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.T368I	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	368					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	p.T368I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GCAGTACATGGTGTGGGGCAC	0.612000									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	67					0	0	0.000720815	0	0
OR4N4	283694	broad.mit.edu	37	15	22382687	22382687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:22382687C>T	ENST00000328795.4	+	1	306	c.215C>T	c.(214-216)tCc>tTc	p.S72F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGGATGCATCCTACTCCTTC	0.483000													33	141					0	0	0.00195071	0	0
STAP1	26228	broad.mit.edu	37	4	68472054	68472054	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:68472054G>A	ENST00000265404.2	+	9	949	c.867G>A	c.(865-867)aaG>aaA	p.K289K	STAP1_ENST00000396225.1_Silent_p.K289K	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	289					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AAAAGTTGAAGAAAAATCCAC	0.328000													11	20					0	0	0.00136819	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870954	51870954	+	Silent	SNP	G	G	T	rs45562541	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:51870954G>T	ENST00000371497.5	+	2	1844	c.957G>T	c.(955-957)ccG>ccT	p.P319P	TSHZ2_ENST00000603338.2_Silent_p.P316P|TSHZ2_ENST00000329613.6_Silent_p.P316P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	319					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGGTCACCCCGGCTAAGAAAC	0.458000													23	59					2.21704e-12	5.11212e-12	0.00278032	1	0
OR5D18	219438	broad.mit.edu	37	11	55587134	55587134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:55587134G>A	ENST00000333976.4	+	1	49	c.29G>A	c.(28-30)gGg>gAg	p.G10E		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AATACAAGTGGGACCACGTTC	0.423000													23	20					0	0	0.00278032	0	0
NBAS	51594	broad.mit.edu	37	2	15493708	15493708	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:15493708A>G	ENST00000281513.5	-	34	4083	c.4058T>C	c.(4057-4059)cTt>cCt	p.L1353P	NBAS_ENST00000441750.1_Missense_Mutation_p.L1233P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1353										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCTGCCAAAAGAAGTTCAAT	0.473000													34	84					0	0	0.00283554	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634815	6634815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:6634815G>A	ENST00000333172.6	+	3	816	c.623G>A	c.(622-624)tGg>tAg	p.W208*	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Nonsense_Mutation_p.W208*	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	208					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AAGTTCGGGTGGACCTGGATC	0.587000													14	23					0	0	0.00244969	0	0
MASP1	5648	broad.mit.edu	37	3	186943152	186943152	+	Silent	SNP	G	G	A	rs147189329	by1000genomes	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:186943152G>A	ENST00000337774.5	-	13	2090	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	567	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGGGCATCACGAAGGCATTCA	0.582000													48	57					0	0	0.00361006	0	0
KAT6A	7994	broad.mit.edu	37	8	41792152	41792152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:41792152G>A	ENST00000396930.3	-	18	4129	c.3586C>T	c.(3586-3588)Cct>Tct	p.P1196S	KAT6A_ENST00000265713.2_Missense_Mutation_p.P1196S|KAT6A_ENST00000406337.1_Missense_Mutation_p.P1196S	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1196					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CCAGCTTTAGGAATGGAAACG	0.483000													38	76					0	0	0.00148497	0	0
PKD2L1	9033	broad.mit.edu	37	10	102051114	102051114	+	Missense_Mutation	SNP	G	G	A	rs115252223	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:102051114G>A	ENST00000318222.3	-	12	2333	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	PKD2L1_ENST00000338519.3_Missense_Mutation_p.R576C|PKD2L1_ENST00000353274.3_Missense_Mutation_p.R651C	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	651					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCAGAATACGATTCCCATCT	0.498000													22	49					0	0	0.00229938	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630351	51630351	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:51630351C>T	ENST00000440804.3	+	4	880	c.813C>T	c.(811-813)gtC>gtT	p.V271V	SIGLEC9_ENST00000250360.3_Silent_p.V271V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	271	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TGCGCCTGGTCTGTGCAGTTG	0.577000													26	68					0	0	0.00127121	0	0
TSGA10	80705	broad.mit.edu	37	2	99725409	99725409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:99725409G>A	ENST00000393483.3	-	7	941	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	TSGA10_ENST00000355053.4_Missense_Mutation_p.R33C|TSGA10_ENST00000539964.1_Missense_Mutation_p.R33C|TSGA10_ENST00000410001.1_Missense_Mutation_p.R33C|TSGA10_ENST00000542655.1_Missense_Mutation_p.R33C|TSGA10_ENST00000478090.1_5'UTR	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	33					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGTTCTTCACGATCTCTTGTT	0.343000													12	31					0	0	0.00136819	0	0
CDS1	1040	broad.mit.edu	37	4	85530642	85530642	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:85530642G>A	ENST00000295887.5	+	3	729	c.306G>A	c.(304-306)ctG>ctA	p.L102L		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	102					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	p.L102L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TGTTTTTCCTGATCATCTATA	0.343000													25	72					0	0	0.000878237	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112693	148112693	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:148112693G>A	ENST00000361727.3	+	24	4497	c.3981G>A	c.(3979-3981)aaG>aaA	p.K1327K	CNTNAP2_ENST00000538075.1_Silent_p.K386K|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1327					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAGCAAAAAGGAATGGCTCA	0.522000										HNSCC(39;0.1)			19	31					0	0	0.000958276	0	0
TMEM132D	121256	broad.mit.edu	37	12	130015650	130015650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:130015650G>A	ENST00000422113.2	-	3	1395	c.1069C>T	c.(1069-1071)Cca>Tca	p.P357S		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	357						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGACAGCTGGTGCATACTTT	0.512000													27	44					0	0	0.00395357	0	0
CCKAR	886	broad.mit.edu	37	4	26483391	26483391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:26483391G>A	ENST00000295589.3	-	5	1350	c.1156C>T	c.(1156-1158)Ccc>Tcc	p.P386S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	386					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GGGCAGCAGGGGAAGGTGGCC	0.617000													19	70					0	0	0.00121646	0	0
NFKB2	4791	broad.mit.edu	37	10	104157399	104157399	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:104157399C>T	ENST00000369966.3	+	8	868	c.618C>T	c.(616-618)tcC>tcT	p.S206S	NFKB2_ENST00000428099.1_Silent_p.S206S|NFKB2_ENST00000189444.6_Silent_p.S206S	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	206	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GCTCCTTCTCCCTGCCCCTGA	0.577000			T	IGH@	B-NHL								37	115					0	0	0.00148497	0	0
SLC1A6	6511	broad.mit.edu	37	19	15079140	15079140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:15079140C>T	ENST00000598504.1	-	6	1882	c.523G>A	c.(523-525)Gct>Act	p.A175T	SLC1A6_ENST00000600144.1_Missense_Mutation_p.A175T|SLC1A6_ENST00000544886.2_Missense_Mutation_p.A175T|SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000221742.3_Missense_Mutation_p.A175T	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	175					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AAGGCATCAGCTGTGGGGATG	0.507000													4	14					0	0	0.00024832	0	0
OR2J3	442186	broad.mit.edu	37	6	29080239	29080239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:29080239C>T	ENST00000377169.1	+	1	572	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S191*(1)|p.S191L(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTGCGATTATCGTGTGTTGAT	0.458000													12	29					0	0	0.00136819	0	0
CYP2C18	1562	broad.mit.edu	37	10	96495020	96495020	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:96495020G>A	ENST00000285979.6	+	9	1491	c.1291_splice	c.e9-1	p.G431_splice	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Splice_Site_p.G372_splice	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTATTTTCAGGAAAACGGATG	0.408000													20	39					0	0	0.00188189	0	0
OR14C36	127066	broad.mit.edu	37	1	248512862	248512862	+	Silent	SNP	G	G	A	rs143199703		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:248512862G>A	ENST00000317861.1	+	1	786	c.786G>A	c.(784-786)gcG>gcA	p.A262A		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A262A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGCCACCTGCGATACCTGCAG	0.463000													35	76					0	0	0.000953801	0	0
NEB	4703	broad.mit.edu	37	2	152497000	152497000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:152497000C>T	ENST00000427231.2	-	61	8756	c.8554G>A	c.(8554-8556)Gtg>Atg	p.V2852M	NEB_ENST00000603639.1_Missense_Mutation_p.V2852M|NEB_ENST00000409198.1_Missense_Mutation_p.V2852M|NEB_ENST00000172853.10_Missense_Mutation_p.V2852M|NEB_ENST00000604864.1_Missense_Mutation_p.V2852M|NEB_ENST00000397345.3_Missense_Mutation_p.V2852M	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2852					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCAGCACCACCCCCAGCATG	0.562000													90	163					0	0	0.00361006	0	0
SPTBN2	6712	broad.mit.edu	37	11	66458762	66458762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:66458762C>T	ENST00000533211.1	-	27	5889	c.5558G>A	c.(5557-5559)aGc>aAc	p.S1853N	SPTBN2_ENST00000309996.2_Missense_Mutation_p.S1853N|SPTBN2_ENST00000529997.1_Missense_Mutation_p.S1853N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1853					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GACCTGGGGGCTGAGGGCCTG	0.647000													31	83					0	0	0.00375469	0	0
TRAV30	28652	broad.mit.edu	37	14	22636742	22636742	+	RNA	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:22636742C>T	ENST00000557168.1	+	0	195																											CACCCGTCTTCCTGATGATAT	0.453000													18	23					0	0	0.00229938	0	0
GPCPD1	56261	broad.mit.edu	37	20	5548169	5548169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:5548169G>A	ENST00000379019.4	-	13	1399	c.1187C>T	c.(1186-1188)cCa>cTa	p.P396L	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	396	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TTCTTTTACTGGAATTTCAAA	0.249000													32	71					0	0	0.00375469	0	0
OR8J1	219477	broad.mit.edu	37	11	56128428	56128428	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:56128428A>G	ENST00000303039.3	+	1	738	c.706A>G	c.(706-708)Aaa>Gaa	p.K236E		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	236					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)					AGGAAGGAAAAAAGCCTTTTC	0.353000													22	50					0	0	0.00152264	0	0
FERMT3	83706	broad.mit.edu	37	11	63978105	63978105	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:63978105C>T	ENST00000279227.5	+	3	278	c.183C>T	c.(181-183)gaC>gaT	p.D61D	FERMT3_ENST00000345728.5_Silent_p.D61D	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	61					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						ACTGGTCAGACCATGCTATTT	0.612000													29	86					0	0	0.00428921	0	0
LIN7A	8825	broad.mit.edu	37	12	81205420	81205420	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:81205420T>G	ENST00000552864.1	-	5	728	c.526A>C	c.(526-528)Aag>Cag	p.K176Q		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	176	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TTAGCAGCCTTGAGTAGTTCC	0.478000													21	47					0	0	0.00278032	0	0
NPTX2	4885	broad.mit.edu	37	7	98257757	98257757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:98257757G>A	ENST00000265634.3	+	5	1277	c.1112G>A	c.(1111-1113)gGg>gAg	p.G371E		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	371	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCATTTGTCGGGGAGCTCAGC	0.572000													5	7					0	0	0.00116845	0	0
ZNF653	115950	broad.mit.edu	37	19	11596514	11596514	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:11596514G>A	ENST00000293771.5	-	7	1663	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TGGATAAATAGAACTTCTTGC	0.577000													44	74					0	0	0.00361006	0	0
XPO5	57510	broad.mit.edu	37	6	43536447	43536447	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:43536447C>T	ENST00000265351.7	-	6	859		c.e6+1			NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5						gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGAGCTCTTACCTTTGACTCC	0.423000													15	59					0	0	0.00074312	0	0
MIR1253	100302208	broad.mit.edu	37	17	2651399	2651399	+	RNA	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:2651399G>A	ENST00000408273.1	-	0	77					NR_031654.1																						ATCCCAAAGGGGAGAAGATCA	0.483000													4	26					0	0	0.00116845	0	0
KCNK13	56659	broad.mit.edu	37	14	90650916	90650916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:90650916C>T	ENST00000282146.4	+	2	1237	c.796C>T	c.(796-798)Ctc>Ttc	p.L266F		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	266						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CGTCTTCATCCTCATGGGTGT	0.517000													22	66					0	0	0.00278032	0	0
FBXO11	80204	broad.mit.edu	37	2	48050434	48050434	+	Silent	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:48050434A>G	ENST00000403359.3	-	12	1536	c.1464T>C	c.(1462-1464)gcT>gcC	p.A488A	FBXO11_ENST00000316377.4_Silent_p.A404A|FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000402508.1_Silent_p.A404A	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	488					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGTAGGGTTAGCATAGGCTT	0.363000			"""Mis, F, D"""		DLBCL								14	23					0	0	0.00185496	0	0
KLRC2	3822	broad.mit.edu	37	12	10587979	10587979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:10587979G>A	ENST00000381902.2	-	2	224	c.218C>T	c.(217-219)gCc>gTc	p.A73V	KLRC2_ENST00000536833.2_Missense_Mutation_p.A14V|KLRC2_ENST00000381901.1_Missense_Mutation_p.A73V|NKG2-E_ENST00000539033.1_Missense_Mutation_p.A73V	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	73					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TAGGACCTCGGCAGTGAGCTT	0.428000													52	244					0	0	0.00361006	0	0
NDST1	3340	broad.mit.edu	37	5	149914541	149914541	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:149914541C>T	ENST00000261797.6	+	5	1711	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	NDST1_ENST00000523767.1_Silent_p.S403S	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	403	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAACCAGTCCGTGTTGGCCG	0.592000													10	22					0	0	0.000442599	0	0
SPTA1	6708	broad.mit.edu	37	1	158612330	158612330	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:158612330C>T	ENST00000368148.3	-	33	4788	c.4608G>A	c.(4606-4608)agG>agA	p.R1536R	SPTA1_ENST00000368147.3_Silent_p.R1536R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1536					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGGTATTTCCTCTGAAGGG	0.393000													9	55					0	0	0.000274275	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33408710	33408710	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:33408710C>T	ENST00000418600.2	+	11	1982	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A	SYNGAP1_ENST00000293748.5_Silent_p.A627A|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.A568A	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	627	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCTCATTGCCAAGGTCATCC	0.602000													7	18					0	0	0.00198382	0	0
DNAH5	1767	broad.mit.edu	37	5	13811764	13811764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:13811764G>A	ENST00000265104.4	-	44	7503	c.7399C>T	c.(7399-7401)Cct>Tct	p.P2467S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2467					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCTTCAGAGGAATCAGGCCT	0.403000									Kartagener syndrome				15	33					0	0	0.000566183	0	0
OR4K15	81127	broad.mit.edu	37	14	20443908	20443908	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:20443908C>T	ENST00000305051.5	+	1	306	c.231C>T	c.(229-231)tcC>tcT	p.S77S		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTCAGATTCCCGCCTTCACA	0.433000													40	74					0	0	0.00285205	0	0
CSE1L	1434	broad.mit.edu	37	20	47705915	47705915	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:47705915C>T	ENST00000262982.2	+	18	2076	c.1953C>T	c.(1951-1953)atC>atT	p.I651I	CSE1L_ENST00000396192.3_Silent_p.I595I|CSE1L_ENST00000542325.1_Silent_p.I434I	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	651					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTACTGAAATCTTACAAAATG	0.343000													10	24					0	0	0.000673444	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41721867	41721867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:41721867C>T	ENST00000352645.4	+	4	487	c.230C>T	c.(229-231)cCc>cTc	p.P77L	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.P77L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	77					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTGGCCCTGCCCCGGGAGCTG	0.592000													4	10					0	0	0.00024832	0	0
LIMK2	3985	broad.mit.edu	37	22	31655116	31655116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:31655116G>A	ENST00000331728.4	+	4	376	c.262G>A	c.(262-264)Gag>Aag	p.E88K	LIMK2_ENST00000340552.4_Missense_Mutation_p.E67K|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.E10K|LIMK2_ENST00000333611.4_Missense_Mutation_p.E67K	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	88	LIM zinc-binding 2.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GGTGGCTGGGGAGTTCAAGTA	0.547000													21	35					0	0	0.00395357	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361478	105361478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:105361478G>A	ENST00000297581.2	+	2	747	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.R233Q	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	233					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TTCATGAAGCGATTTTTGGGC	0.498000													31	63					0	0	0.001512	0	0
HDLBP	3069	broad.mit.edu	37	2	242195761	242195761	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:242195761G>A	ENST00000391975.1	-	7	938	c.711C>T	c.(709-711)atC>atT	p.I237I	HDLBP_ENST00000310931.4_Silent_p.I237I|HDLBP_ENST00000391976.2_Silent_p.I237I|HDLBP_ENST00000427183.2_Silent_p.I273I	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	237	KH 2.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ACGGCCCAGCGATGAAGGGGT	0.517000													13	52					0	0	0.00244969	0	0
TRIM71	131405	broad.mit.edu	37	3	32932942	32932942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:32932942C>T	ENST00000383763.4	+	4	2309	c.2246C>T	c.(2245-2247)tCc>tTc	p.S749F		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	749					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACTTTGACTCCCCACGGGGT	0.582000													11	19					0	0	0.00185496	0	0
NBPF9	400818	broad.mit.edu	37	1	144816614	144816614	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:144816614C>T	ENST00000440491.2	+	5	747	c.747C>T	c.(745-747)gtC>gtT	p.V249V	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Silent_p.V249V|NBPF9_ENST00000281815.8_5'UTR	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						AAGACAAAGTCGACTCAACTC	0.448000													70	158					0	0	0.00361006	0	0
CPNE4	131034	broad.mit.edu	37	3	131261456	131261456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:131261456C>T	ENST00000512055.1	-	19	3610	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	CPNE4_ENST00000429747.1_Missense_Mutation_p.G495E|CPNE4_ENST00000511604.1_Missense_Mutation_p.G495E|CPNE4_ENST00000502818.1_Missense_Mutation_p.G513E|CPNE4_ENST00000512332.1_Missense_Mutation_p.G513E			Q96A23	CPNE4_HUMAN	copine IV	495	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AACAGGCTCTCCCTTGGGTGA	0.517000													14	63					0	0	0.00244969	0	0
LRP6	4040	broad.mit.edu	37	12	12315233	12315233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:12315233C>A	ENST00000261349.4	-	10	2249	c.2173G>T	c.(2173-2175)Gga>Tga	p.G725*	LRP6_ENST00000543091.1_Nonsense_Mutation_p.G725*	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	725	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CGATTCGTTCCTGTGTCTGCC	0.507000													10	609					0.000978159	0.00222442	0.000978159	1	0
MYO18A	399687	broad.mit.edu	37	17	27445449	27445449	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:27445449G>A	ENST00000527372.1	-	9	2019	c.1839C>T	c.(1837-1839)ctC>ctT	p.L613L	MYO18A_ENST00000533112.1_Silent_p.L613L|MYO18A_ENST00000531253.1_Silent_p.L613L|MYO18A_ENST00000354329.4_Silent_p.L613L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	613	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGTTGAGGTGGAGCTCTGTCC	0.592000													6	11					0	0	0.00198382	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679618	160679618	+	Missense_Mutation	SNP	C	C	T	rs138397321		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:160679618C>T	ENST00000366952.1	-	3	1590	c.109G>A	c.(109-111)Gag>Aag	p.E37K	SLC22A2_ENST00000366953.3_Missense_Mutation_p.E58K|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	58					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AGACTCAGCTCGGCCACTCCG	0.672000													13	43					0	0	0.00185496	0	0
GPR112	139378	broad.mit.edu	37	X	135427792	135427792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:135427792G>A	ENST00000394143.1	+	6	2218	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	GPR112_ENST00000412101.1_Missense_Mutation_p.D438N|GPR112_ENST00000394141.1_Missense_Mutation_p.D438N|GPR112_ENST00000287534.4_Missense_Mutation_p.D580N|GPR112_ENST00000370652.1_Missense_Mutation_p.D643N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	643					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCCACAACTGATGAAGCTGC	0.498000													28	14					0	0	0.00209593	0	0
BAGE2	85319	broad.mit.edu	37	21	11039058	11039058	+	RNA	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:11039058C>T	ENST00000470054.1	-	0	1145									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)		TCCATCAATCCAGTAGAAAGT	0.398000													8	272					0	0	0.000274275	0	0
COL6A2	1292	broad.mit.edu	37	21	47549380	47549380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:47549380C>T	ENST00000357838.4	+	28	2814	c.2732C>T	c.(2731-2733)cCc>cTc	p.P911L	COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.P911L|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GTGGGGGACCCCGAGACCGCG	0.692000													5	18					0	0	0.00116845	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423239	107423239	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:107423239C>T	ENST00000409382.3	-	6	2095	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	ST6GAL2_ENST00000361686.4_Silent_p.L495L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	495					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGCCCATGTTCAGGCGCTGCA	0.612000													25	46					0	0	0.000720815	0	0
CCKBR	887	broad.mit.edu	37	11	6292024	6292024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:6292024G>A	ENST00000525462.1	+	4	805	c.802G>A	c.(802-804)Ggg>Agg	p.G268R	CCKBR_ENST00000334619.2_Missense_Mutation_p.G268R|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.G184R			P32239	GASR_HUMAN	cholecystokinin B receptor	219					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAACCAAGGCGGGCTGCCAGG	0.632000													14	24					0	0	0.00074312	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50455651	50455651	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:50455651C>T	ENST00000447370.2	-	9	1742	c.1651_splice	c.e9-1	p.G551_splice	SIGLEC11_ENST00000426971.2_Splice_Site_p.W455_splice|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	551					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCAGCTTCCCTGCATGGGA	0.637000													17	24					0	0	0.00400662	0	0
SPINK5	11005	broad.mit.edu	37	5	147488359	147488359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:147488359G>A	ENST00000359874.3	+	18	1724	c.1651G>A	c.(1651-1653)Ggg>Agg	p.G551R	SPINK5_ENST00000256084.7_Missense_Mutation_p.G551R|SPINK5_ENST00000398454.1_Missense_Mutation_p.G551R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	551	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			agaagaaaaagggaaagtcga	0.363000													21	56					0	0	0.00188189	0	0
PDCD1	5133	broad.mit.edu	37	2	242793385	242793385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:242793385C>T	ENST00000334409.5	-	5	761	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	231					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GGTCTTCTCTCGCCACTGGAA	0.627000													16	25					0	0	0.00316338	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919293	130919293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:130919293C>T	ENST00000261655.4	-	11	2351	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	RIMBP2_ENST00000535703.1_Missense_Mutation_p.E638K|RIMBP2_ENST00000536002.1_Missense_Mutation_p.E638K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	730						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTGCCAAGTTCAGAGCCTTTC	0.662000													43	71					0	0	0.00361006	0	0
EDN3	1908	broad.mit.edu	37	20	57876515	57876515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:57876515C>T	ENST00000311585.7	+	2	473	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	EDN3_ENST00000395654.3_Nonsense_Mutation_p.Q35*|EDN3_ENST00000371025.3_Nonsense_Mutation_p.Q35*|EDN3_ENST00000371028.2_Nonsense_Mutation_p.Q35*|EDN3_ENST00000337938.2_Nonsense_Mutation_p.Q35*	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	35					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CGGCGTGTCCCAGGCCCCCAC	0.662000													7	19					0	0	0.000274275	0	0
NFIC	4782	broad.mit.edu	37	19	3434309	3434309	+	Silent	SNP	C	C	T	rs112569402		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:3434309C>T	ENST00000589123.1	+	5	837	c.717C>T	c.(715-717)tcC>tcT	p.S239S	NFIC_ENST00000395111.3_Silent_p.S239S|NFIC_ENST00000586919.1_Silent_p.S215S|NFIC_ENST00000443272.2_Silent_p.S248S|NFIC_ENST00000346156.5_Silent_p.S215S|NFIC_ENST00000341919.3_Silent_p.S248S|NFIC_ENST00000590282.1_Silent_p.S248S	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	248					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCAACTTCTCCCTGGGGGAGC	0.612000													19	30					0	0	0.000958276	0	0
FILIP1	27145	broad.mit.edu	37	6	76022919	76022919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:76022919C>T	ENST00000393004.2	-	5	2850	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	FILIP1_ENST00000237172.7_Missense_Mutation_p.E877K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.E778K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	877										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGGCCGTTTTCCCTCTTTCTC	0.522000													24	48					0	0	0.00278032	0	0
NAV1	89796	broad.mit.edu	37	1	201752716	201752716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:201752716C>T	ENST00000367296.4	+	7	2960	c.2540C>T	c.(2539-2541)cCc>cTc	p.P847L	NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Missense_Mutation_p.P847L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.P456L|NAV1_ENST00000367297.4_Missense_Mutation_p.P847L|NAV1_ENST00000295624.6_Missense_Mutation_p.P847L|NAV1_ENST00000367302.1_Missense_Mutation_p.P860L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	847					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGTCCGGCACCCATCCTCAAT	0.557000													47	215					0	0	0.00321405	0	0
MTMR8	55613	broad.mit.edu	37	X	63574714	63574714	+	Silent	SNP	C	C	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:63574714C>G	ENST00000374852.3	-	4	478	c.411G>C	c.(409-411)ggG>ggC	p.G137G	MTMR8_ENST00000453546.1_Silent_p.G137G	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	137	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TTCCCATACGCCCAAAGTCTG	0.378000													15	8					0	0	0.00316338	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110394709	110394709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:110394709C>T	ENST00000378402.5	+	4	430	c.326C>T	c.(325-327)tCc>tTc	p.S109F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	109	IPT/TIG 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCGGAAGATTCCTACACTGTT	0.398000										HNSCC(38;0.096)			29	74					0	0	0.001512	0	0
GALNT2	2590	broad.mit.edu	37	1	230400986	230400986	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:230400986G>T	ENST00000366672.4	+	14	1385		c.e14-1		GALNT2_ENST00000541865.1_Splice_Site|GALNT2_ENST00000485438.1_Splice_Site|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000543760.1_Splice_Site	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)						immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TTGTTTTTCAGGGTTCCAGAC	0.527000													29	56					7.53681e-25	1.7512e-24	0.00106085	1	0
FRYL	285527	broad.mit.edu	37	4	48545929	48545929	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:48545929G>A	ENST00000358350.4	-	44	6091	c.5487C>T	c.(5485-5487)tcC>tcT	p.S1829S	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.S1829S|FRYL_ENST00000503238.1_Silent_p.S1829S	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1829					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAATCTGAAAGGATCTCCCAG	0.453000													17	26					0	0	0.000566183	0	0
LTBP3	4054	broad.mit.edu	37	11	65309086	65309086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:65309086G>A	ENST00000301873.5	-	19	2978	c.2710C>T	c.(2710-2712)Cag>Tag	p.Q904*	LTBP3_ENST00000536982.1_Nonsense_Mutation_p.Q530*|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Nonsense_Mutation_p.Q334*|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Nonsense_Mutation_p.Q904*	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	904	EGF-like 9; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CAACCGTGCTGGTCCTGGGTG	0.632000													4	51					0	0	0.00024832	0	0
CYP2E1	1571	broad.mit.edu	37	10	135351392	135351392	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:135351392C>T	ENST00000463117.2	+	10	1565	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.S431S			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	431					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	AGCCATTTTCCACAGGTGAGA	0.473000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				14	19					0	0	0.00316338	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214133	1214133	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:1214133C>T	ENST00000304460.10	+	6	896	c.840C>T	c.(838-840)tcC>tcT	p.S280S		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	280					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCTCCTTCTCCCTGGCCTTCG	0.637000													20	62					0	0	0.00229938	0	0
AGO4	192670	broad.mit.edu	37	1	36292380	36292380	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:36292380G>A	ENST00000373210.3	+	7	1037	c.792G>A	c.(790-792)caG>caA	p.Q264Q		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		ACTGTGGACAGATGAAACGAA	0.343000													7	16					0	0	0.000274275	0	0
MS4A1	931	broad.mit.edu	37	11	60233400	60233400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:60233400G>A	ENST00000534668.1	+	5	632	c.343G>A	c.(343-345)Gga>Aga	p.G115R	MS4A1_ENST00000345732.4_Missense_Mutation_p.G115R|MS4A1_ENST00000532073.1_Missense_Mutation_p.G115R|MS4A1_ENST00000389939.2_Missense_Mutation_p.G115R|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	115					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TCAGGTCAAAGGAAAAATGAT	0.343000													6	29					0	0	0.00198382	0	0
AKR1C2	1646	broad.mit.edu	37	10	5042756	5042756	+	Missense_Mutation	SNP	G	G	A	rs139521690		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:5042756G>A	ENST00000380753.4	-	3	542	c.355C>T	c.(355-357)Cca>Tca	p.P119S	AKR1C2_ENST00000421196.3_Missense_Mutation_p.P119S|AKR1C2_ENST00000407674.1_Missense_Mutation_p.P119S|AKR1C2_ENST00000455190.1_Missense_Mutation_p.P119S	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	119					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	ACAGACACTGGAAAATGAATA	0.378000													17	33					0	0	0.00152264	0	0
SVEP1	79987	broad.mit.edu	37	9	113170678	113170678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:113170678C>T	ENST00000401783.2	-	38	7538	c.7202G>A	c.(7201-7203)gGa>gAa	p.G2401E	SVEP1_ENST00000297826.5_Missense_Mutation_p.G327E|SVEP1_ENST00000374469.1_Missense_Mutation_p.G2378E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2401	Sushi 17.				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						GACAGTACTTCCAAAATGAAG	0.458000													13	12					0	0	0.00244969	0	0
XPO5	57510	broad.mit.edu	37	6	43536448	43536448	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:43536448C>T	ENST00000265351.7	-	6	858	c.648_splice	c.e6+1	p.K216_splice		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	216					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GAGCTCTTACCTTTGACTCCT	0.423000													15	57					0	0	0.00074312	0	0
TRPM6	140803	broad.mit.edu	37	9	77377626	77377626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:77377626C>T	ENST00000451710.3	-	26	4198	c.3961G>A	c.(3961-3963)Gaa>Aaa	p.E1321K	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.E1321K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E1316K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E1321K|TRPM6_ENST00000449912.2_Missense_Mutation_p.E1316K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1321					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTTGTGTTTCTTGCCTTTCC	0.473000													52	79					0	0	0.00361006	0	0
METTL13	51603	broad.mit.edu	37	1	171761261	171761261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:171761261C>T	ENST00000361735.3	+	6	1845	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S	METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000458517.1_Missense_Mutation_p.P526S|METTL13_ENST00000367737.5_Missense_Mutation_p.P371S|METTL13_ENST00000362019.3_Missense_Mutation_p.P441S	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	527							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGAGATCGATCCCTCCATGTT	0.567000													32	89					0	0	0.00209593	0	0
OR1N2	138882	broad.mit.edu	37	9	125316390	125316390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:125316390G>A	ENST00000373688.2	+	1	1000	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ACAGAGACATGAAGGAGGCTT	0.408000													18	18					0	0	0.00074312	0	0
PAPPA	5069	broad.mit.edu	37	9	119158841	119158841	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:119158841C>T	ENST00000328252.3	+	22	5199	c.4830C>T	c.(4828-4830)gaC>gaT	p.D1610D	PAPPA_ENST00000534838.1_Silent_p.D648D|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1610					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTTGTCGGGACCCCCAGGCCC	0.517000													25	40					0	0	0.000878237	0	0
MLLT4	4301	broad.mit.edu	37	6	168281154	168281154	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:168281154A>T	ENST00000366806.2	+	6	996	c.854A>T	c.(853-855)tAt>tTt	p.Y285F	MLLT4_ENST00000447894.2_Missense_Mutation_p.Y285F|MLLT4_ENST00000344191.4_Missense_Mutation_p.Y285F|MLLT4_ENST00000392108.3_Missense_Mutation_p.Y285F|MLLT4_ENST00000351017.4_Missense_Mutation_p.Y285F|MLLT4_ENST00000400822.3_Missense_Mutation_p.Y284F|MLLT4_ENST00000392112.1_Missense_Mutation_p.Y284F			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	285	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTAGAGAAGTATGGTCTGGAA	0.378000			T	MLL	AL								62	116					0	0	0.00361006	0	0
ZNF394	84124	broad.mit.edu	37	7	99091874	99091874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:99091874G>A	ENST00000337673.6	-	3	1167	c.964C>T	c.(964-966)Cac>Tac	p.H322Y	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	322					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GTCACCATGTGGAAACTTTGC	0.517000													32	34					0	0	0.00327116	0	0
HELQ	113510	broad.mit.edu	37	4	84376745	84376745	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:84376745G>A	ENST00000295488.3	-	1	264	c.102C>T	c.(100-102)ctC>ctT	p.L34L	HELQ_ENST00000510985.1_Silent_p.L34L|HELQ_ENST00000440639.2_5'UTR	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	34							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTCCGGGCACGAGCTCGGCCG	0.617000								Other identified genes with known or suspected DNA repair function			OREG0016254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	102					0	0	0.00170553	0	0
MC3R	4159	broad.mit.edu	37	20	54824426	54824426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:54824426G>A	ENST00000243911.2	+	1	639	c.527G>A	c.(526-528)gGc>gAc	p.G176D		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	213					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GGCGTCTGTGGCGTGGTGTTC	0.562000													26	53					0	0	0.000878237	0	0
C1orf173	127254	broad.mit.edu	37	1	75038901	75038901	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:75038901G>A	ENST00000326665.5	-	14	2711	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	831	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCCTGGAGGGATCTCCCTTT	0.572000													19	42					0	0	0.000958276	0	0
ITPR2	3709	broad.mit.edu	37	12	26868318	26868318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:26868318C>T	ENST00000381340.3	-	8	1185	c.769G>A	c.(769-771)Gag>Aag	p.E257K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	257	MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGTTTTTTCTCATATTCATCA	0.393000													21	69					0	0	0.00152264	0	0
LOC645752	645752	broad.mit.edu	37	15	78211452	78211452	+	RNA	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:78211452C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CTCGGATCATCTCCTCCTGCT	0.577000													40	68					0	0	0.00111076	0	0
DEFB112	245915	broad.mit.edu	37	6	50011425	50011425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:50011425C>T	ENST00000322246.4	-	2	204	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	69					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					ATCCTAAATTCACTATCATCA	0.438000													17	43					0	0	0.000958276	0	0
GABRR3	200959	broad.mit.edu	37	3	97744496	97744496	+	RNA	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:97744496A>G	ENST00000472788.1	-	0	154					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						TGGTACTGTCATCTTTCTTCA	0.398000													8	21					0	0	0.000274275	0	0
TNNI3K	51086	broad.mit.edu	37	1	74701140	74701140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:74701140G>A	ENST00000326637.3	+	1	56	c.5G>A	c.(4-6)gGa>gAa	p.G2E	FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370891.2_Intron	NM_015978.2	NP_057062.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TAATAAATGGGAAATTATAAA	0.303000													35	63					0	0	0.00195071	0	0
CYTIP	9595	broad.mit.edu	37	2	158300433	158300433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:158300433G>A	ENST00000264192.3	-	1	221	c.100C>T	c.(100-102)Ctt>Ttt	p.L34F	CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	34					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TCCATCGTAAGGCTGCCGGTG	0.498000													30	53					0	0	0.00209593	0	0
PHKA1	5255	broad.mit.edu	37	X	71822083	71822083	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:71822083G>A	ENST00000373545.3	-	26	3219	c.2781C>T	c.(2779-2781)atC>atT	p.I927I	PHKA1_ENST00000541944.1_Silent_p.I927I|PHKA1_ENST00000339490.3_Silent_p.I986I|PHKA1_ENST00000373539.3_Silent_p.I986I|PHKA1_ENST00000373542.4_Silent_p.I986I			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	986					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CAATCTCGTGGATAGAAATAG	0.413000													13	11					0	0	0.000566183	0	0
KIAA0196	9897	broad.mit.edu	37	8	126071759	126071759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:126071759G>A	ENST00000318410.7	-	13	1896	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	KIAA0196_ENST00000517845.1_Missense_Mutation_p.S368F	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	516					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTGCAGATTGGATTCCAACTG	0.358000													5	34					0	0	0.00116845	0	0
OR8K5	219453	broad.mit.edu	37	11	55926886	55926886	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:55926886T>C	ENST00000313447.1	-	1	907	c.908A>G	c.(907-909)aAg>aGg	p.K303R		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CTCAAAGAGCTTATAGAAGGC	0.274000													9	18					0	0	0.00136819	0	0
MACROD2	140733	broad.mit.edu	37	20	15480424	15480424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:15480424C>T	ENST00000217246.4	+	8	972	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	MACROD2_ENST00000310348.4_Missense_Mutation_p.P193S|MACROD2_ENST00000402914.1_5'UTR	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	193	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TCTAGGCTTTCCCAACGAGCC	0.438000													18	31					0	0	0.00121646	0	0
CFHR4	10877	broad.mit.edu	37	1	196871680	196871680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:196871680C>T	ENST00000367416.2	+	2	325	c.188C>T	c.(187-189)tCa>tTa	p.S63L	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.S64L	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.S64L(1)|p.S63L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GTGACTCCTTCAGGAAGTTAC	0.393000													41	76					0	0	0.00170553	0	0
DDX3X	1654	broad.mit.edu	37	X	41198307	41198307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:41198307C>T	ENST00000399959.2	+	3	977	c.122C>T	c.(121-123)cCt>cTt	p.P41L	DDX3X_ENST00000542215.1_Missense_Mutation_p.P85L|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Missense_Mutation_p.P41L|DDX3X_ENST00000457138.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	41					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TATATTCCTCCTCATTTAAGG	0.313000										HNSCC(61;0.18)			9	9					0	0	0.000673444	0	0
ZNF275	10838	broad.mit.edu	37	X	152612330	152612330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:152612330G>A	ENST00000421401.3	+	4	364	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ZNF275_ENST00000370251.2_Missense_Mutation_p.E63K|ZNF275_ENST00000370249.2_Missense_Mutation_p.E10K|ZNF275_ENST00000440091.1_Missense_Mutation_p.E93K	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	63						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCCACAGGAGATGGCGTC	0.577000													13	15					0	0	0.00244969	0	0
TTN	7273	broad.mit.edu	37	2	179576810	179576810	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179576810C>T	ENST00000589042.1	-	96	27971	c.27747G>A	c.(27745-27747)acG>acA	p.T9249T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.T8005T|TTN_ENST00000591111.1_Silent_p.T8932T|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8932	Ig-like 75.						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)			TTTTGTAAGTCGTAGTGGGTC	0.403000													16	36					0	0	0.00316338	0	0
FLRT3	23767	broad.mit.edu	37	20	14307111	14307111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:14307111G>A	ENST00000378053.3	-	2	1298	c.1042C>T	c.(1042-1044)Ctc>Ttc	p.L348F	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.L348F|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	348	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TCTGCATTGAGATCCTTAATA	0.483000													23	48					0	0	0.00229938	0	0
PIWIL2	55124	broad.mit.edu	37	8	22175740	22175740	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:22175740G>A	ENST00000356766.6	+	20	2503	c.2355G>A	c.(2353-2355)gtG>gtA	p.V785V	PIWIL2_ENST00000521356.1_Silent_p.V785V|PIWIL2_ENST00000454009.2_Silent_p.V785V	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	785	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGGAGATTGTGGACAGCCTGA	0.463000													43	107					0	0	0.00361006	0	0
EXTL3	2137	broad.mit.edu	37	8	28574593	28574593	+	Silent	SNP	G	G	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:28574593G>C	ENST00000220562.4	+	3	1919	c.1017G>C	c.(1015-1017)cgG>cgC	p.R339R	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	339						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CGGTGAAGCGGAAATATCTCT	0.562000													22	27					0	0	0.000878237	0	0
GRM8	2918	broad.mit.edu	37	7	126173891	126173891	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:126173891G>A	ENST00000339582.2	-	9	2353	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	GRM8_ENST00000358373.3_Silent_p.V515V|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Silent_p.V515V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	515					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCAGGCTGCAGACAGACGCCG	0.502000										HNSCC(24;0.065)			23	37					0	0	0.00127121	0	0
C17orf78	284099	broad.mit.edu	37	17	35736186	35736186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:35736186G>A	ENST00000300618.4	+	3	307	c.257G>A	c.(256-258)aGa>aAa	p.R86K	ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.R86K	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	86						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				TATTTGGAGAGAAGGCCAAAG	0.463000													49	99					0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9049043	9049043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:9049043G>A	ENST00000397910.4	-	5	32791	c.32588C>T	c.(32587-32589)tCa>tTa	p.S10863L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10865	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						TGGAACAGCTGAACTGGATTC	0.473000													24	49					0	0	0.00332997	0	0
OR4M2	390538	broad.mit.edu	37	15	22368758	22368758	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:22368758C>T	ENST00000332663.2	+	1	281	c.183C>T	c.(181-183)ttC>ttT	p.F61F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTATGTATTTCCTGTTGGCTA	0.388000													64	140					0	0	0.00361006	0	0
LAMP5	24141	broad.mit.edu	37	20	9495524	9495524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:9495524C>T	ENST00000246070.2	+	1	517	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	LAMP5_ENST00000427562.2_Missense_Mutation_p.P9S|RP5-1119D9.4_ENST00000443469.1_RNA	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	9						integral to membrane											AAGAGGGGTCCCCAGCATCGA	0.597000													6	24					0	0	0.00116845	0	0
PRB3	5544	broad.mit.edu	37	12	11421581	11421581	+	RNA	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:11421581G>A	ENST00000381842.3	-	0	123				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TATTACGGAGGGAGATTCTTC	0.418000													34	89					0	0	0.00170553	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787095	73787095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:73787095G>A	ENST00000342056.2	+	4	1065	c.667G>A	c.(667-669)Ggt>Agt	p.G223S	KCNQ5_ENST00000414165.2_Missense_Mutation_p.G223S|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G223S|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G223S|KCNQ5_ENST00000370392.1_Missense_Mutation_p.G223S|KCNQ5_ENST00000370398.1_Missense_Mutation_p.G223S|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G223S|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G223S	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	223					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAAAACTCAGGGTAATATTTT	0.458000													21	41					0	0	0.00188189	0	0
TTN	7273	broad.mit.edu	37	2	179592541	179592541	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179592541A>T	ENST00000589042.1	-	68	19988	c.19764T>A	c.(19762-19764)gaT>gaA	p.D6588E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D5344E|TTN_ENST00000591111.1_Missense_Mutation_p.D6271E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6271	Ig-like 47.						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)			CCACTGTAGAATCAGGTATGG	0.353000													22	51					0	0	0.00152264	0	0
PCDH18	54510	broad.mit.edu	37	4	138442417	138442417	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:138442417G>A	ENST00000344876.4	-	4	3560	c.3174C>T	c.(3172-3174)gcC>gcT	p.A1058A	PCDH18_ENST00000510305.1_Silent_p.A269A|PCDH18_ENST00000507846.1_Silent_p.A837A|PCDH18_ENST00000412923.2_Silent_p.A1057A|PCDH18_ENST00000511115.1_Silent_p.A238A	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1058	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AATGCGTACTGGCTGCCCATG	0.577000													16	20					0	0	0.000566183	0	0
LIMCH1	22998	broad.mit.edu	37	4	41621205	41621205	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:41621205G>A	ENST00000313860.7	+	8	737	c.682_splice	c.e8-1	p.G228_splice	LIMCH1_ENST00000511496.1_Splice_Site_p.G69_splice|LIMCH1_ENST00000396595.3_Splice_Site_p.G74_splice|LIMCH1_ENST00000512820.1_Splice_Site_p.G228_splice|LIMCH1_ENST00000513024.1_Splice_Site_p.G69_splice|LIMCH1_ENST00000509638.1_Splice_Site_p.G69_splice|LIMCH1_ENST00000509277.1_Splice_Site_p.G74_splice|LIMCH1_ENST00000381753.4_Splice_Site_p.G74_splice|LIMCH1_ENST00000514096.1_Splice_Site_p.G81_splice|LIMCH1_ENST00000503057.1_Splice_Site_p.G69_splice|LIMCH1_ENST00000512946.1_Splice_Site_p.G228_splice|LIMCH1_ENST00000509454.1_Splice_Site_p.G76_splice|LIMCH1_ENST00000508501.1_Splice_Site_p.G228_splice|LIMCH1_ENST00000512632.1_Splice_Site_p.G228_splice	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	228					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCTTCCCTAGGGAGAGGAAGC	0.507000													88	183					0	0	0.00361006	0	0
RASGRF1	5923	broad.mit.edu	37	15	79339128	79339128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:79339128G>A	ENST00000419573.3	-	5	1112	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.P280S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	280	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGTGTGATGGGAGGCTTCTTG	0.592000													39	95					0	0	0.0025221	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762860	130762860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:130762860G>A	ENST00000392429.1	+	2	3671	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	TMEM200A_ENST00000296978.3_Missense_Mutation_p.M431I|TMEM200A_ENST00000545622.1_Missense_Mutation_p.M431I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	431						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGGGATATATGAAACTAGAGA	0.453000													16	34					0	0	0.00316338	0	0
SCN3B	55800	broad.mit.edu	37	11	123513367	123513367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:123513367G>A	ENST00000392770.2	-	3	1034	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	SCN3B_ENST00000530277.1_Missense_Mutation_p.R78W|SCN3B_ENST00000299333.3_Missense_Mutation_p.R78W	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	78	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TGGCCATTCCGATACTCGTAA	0.582000													9	15					0	0	0.000274275	0	0
USP11	8237	broad.mit.edu	37	X	47106620	47106620	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:47106620G>A	ENST00000377107.2	+	18	2774	c.2420_splice	c.e18+1	p.R807_splice	USP11_ENST00000218348.3_Splice_Site_p.R850_splice			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	850					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TTTCCTATCCGGTCAGGGGCC	0.577000													24	19					0	0	0.00106085	0	0
USP24	23358	broad.mit.edu	37	1	55545290	55545290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:55545290G>A	ENST00000294383.6	-	60	7120	c.7121C>T	c.(7120-7122)cCc>cTc	p.P2374L	USP24_ENST00000407756.1_Missense_Mutation_p.P2214L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2374					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGGGCTTGAGGGAGCAATGCT	0.448000													33	67					0	0	0.00209593	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45503088	45503088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:45503088C>T	ENST00000291574.4	+	14	2318	c.2143C>T	c.(2143-2145)Ccc>Tcc	p.P715S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	715					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TCTAGAGATGCCCTCAGGGGT	0.567000													50	84					0	0	0.00361006	0	0
C1orf168	199920	broad.mit.edu	37	1	57221585	57221585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:57221585G>A	ENST00000343433.6	-	7	1194	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	372										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTGGATAGGGAAAATTCTTC	0.393000													11	31					0	0	0.00136819	0	0
C10orf88	80007	broad.mit.edu	37	10	124712447	124712447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:124712447G>A	ENST00000481909.1	-	2	490	c.266C>T	c.(265-267)tCt>tTt	p.S89F	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	89										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		AATGCCAATAGAAGCGATTTC	0.443000													20	34					0	0	0.00229938	0	0
CCDC80	151887	broad.mit.edu	37	3	112357286	112357286	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:112357286C>T	ENST00000206423.3	-	2	2420	c.1467G>A	c.(1465-1467)aaG>aaA	p.K489K	CCDC80_ENST00000439685.2_Silent_p.K489K	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	489	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GAGGTTTCTCCTTTGCTGGCT	0.577000													32	75					0	0	0.0024448	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527590	65527590	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:65527590G>A	ENST00000310193.3	-	4	1223	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	350					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TACCTAGGCAGATTAGGCTGT	0.433000													18	31					0	0	0.00152264	0	0
C12orf54	121273	broad.mit.edu	37	12	48880502	48880502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:48880502G>A	ENST00000314014.2	+	4	259	c.128G>A	c.(127-129)tGg>tAg	p.W43*	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548913.1_3'UTR|C12orf54_ENST00000548364.1_Nonsense_Mutation_p.W43*	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	43										endometrium(1)|large_intestine(4)	5						GAAACCCTGTGGGACCAGGTG	0.438000													6	14					0	0	0.000274275	0	0
ABCA4	24	broad.mit.edu	37	1	94506778	94506778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:94506778C>T	ENST00000370225.3	-	23	3595	c.3509G>A	c.(3508-3510)aGg>aAg	p.R1170K		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1170					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACTGCCTTTCCTTTGGCTCTG	0.562000													13	28					0	0	0.00316338	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687508	27687508	+	Silent	SNP	C	C	T	rs145775010		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:27687508C>T	ENST00000438700.3	-	4	2136	c.2019G>A	c.(2017-2019)agG>agA	p.R673R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	673					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCAGTTTTTGCCTAACATCTT	0.294000													5	28					0	0	0.000602214	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032971	82032971	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:82032971G>A	ENST00000328945.5	-	3	1054	c.927C>T	c.(925-927)ccC>ccT	p.P309P		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	309					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GAGTGAGGAAGGGCTGGAAGT	0.453000													19	36					0	0	0.00229938	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143613	61143613	+	RNA	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:61143613G>A	ENST00000475015.1	-	0	725				C20orf166-AS1_ENST00000412495.1_RNA																							GGGCCACTTGGGACACTCAGC	0.662000													9	22					0	0	0.000274275	0	0
PLEC	5339	broad.mit.edu	37	8	144992922	144992922	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:144992922C>T	ENST00000322810.4	-	32	11647	c.11478G>A	c.(11476-11478)acG>acA	p.T3826T	PLEC_ENST00000354958.2_Silent_p.T3667T|PLEC_ENST00000436759.2_Silent_p.T3716T|PLEC_ENST00000527096.1_Silent_p.T3712T|PLEC_ENST00000354589.3_Silent_p.T3689T|PLEC_ENST00000398774.2_Silent_p.T3657T|PLEC_ENST00000357649.2_Silent_p.T3693T|PLEC_ENST00000345136.3_Silent_p.T3689T|PLEC_ENST00000356346.3_Silent_p.T3675T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3826	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACGGAGCCCGTGCCATAGA	0.647000													8	18					0	0	0.00307968	0	0
TRIM35	23087	broad.mit.edu	37	8	27151621	27151621	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:27151621C>T	ENST00000305364.4	-	3	821	c.738G>A	c.(736-738)aaG>aaA	p.K246K	TRIM35_ENST00000521253.1_Silent_p.K214K	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	246					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CGTCGTCCTCCTTCATCTCCA	0.567000													14	43					0	0	0.00316338	0	0
ZNF28	7576	broad.mit.edu	37	19	53303281	53303281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:53303281G>A	ENST00000438150.2	-	2	2551	c.1658C>T	c.(1657-1659)cCt>cTt	p.P553L	ZNF28_ENST00000457749.2_Missense_Mutation_p.P606L|ZNF28_ENST00000414252.2_Missense_Mutation_p.P553L|ZNF28_ENST00000360272.4_Missense_Mutation_p.P553L			P17035	ZNF28_HUMAN	zinc finger protein 28	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACACTTGTAAGGTTTCTCTCC	0.443000													39	112					0	0	0.00428921	0	0
RAB40C	57799	broad.mit.edu	37	16	677562	677562	+	Silent	SNP	C	C	T	rs139898602		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:677562C>T	ENST00000535977.1	+	7	1008	c.786C>T	c.(784-786)tcC>tcT	p.S262S	RAB40C_ENST00000538492.1_Silent_p.S262S|RAB40C_ENST00000539661.1_Silent_p.S262S|RAB40C_ENST00000248139.3_Silent_p.S262S	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	262					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GGTCCAAGTCCATCCGTCCAC	0.682000													23	32					0	0	0.000878237	0	0
ZNF275	10838	broad.mit.edu	37	X	152612329	152612329	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:152612329G>A	ENST00000421401.3	+	4	363	c.186G>A	c.(184-186)caG>caA	p.Q62Q	ZNF275_ENST00000370251.2_Silent_p.Q62Q|ZNF275_ENST00000370249.2_Silent_p.Q9Q|ZNF275_ENST00000440091.1_Silent_p.Q92Q	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	62						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCCACAGGAGATGGCGT	0.577000													13	15					0	0	0.00244969	0	0
UMPS	7372	broad.mit.edu	37	3	124456817	124456817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:124456817C>T	ENST00000232607.2	+	3	819	c.713C>T	c.(712-714)cCa>cTa	p.P238L	UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000413078.2_Missense_Mutation_p.P60L|UMPS_ENST00000538242.1_Missense_Mutation_p.P60L|UMPS_ENST00000536109.1_Missense_Mutation_p.P146L	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	238	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		AGGATCCACCCAGTTGCATCG	0.498000													30	51					0	0	0.0024448	0	0
SSRP1	6749	broad.mit.edu	37	11	57099698	57099698	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:57099698A>G	ENST00000278412.2	-	8	1195	c.929T>C	c.(928-930)cTc>cCc	p.L310P		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	310					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CATCTCATAGAGGGATCCTGA	0.532000													25	57					0	0	0.000720815	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172237	21172237	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:21172237G>A	ENST00000421593.2	+	2	141	c.141G>A	c.(139-141)ccG>ccA	p.P47P	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)									p.P47P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACACAGACCGAAGTTAATTG	0.328000													10	31					0	0	0.000442599	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701796	56701796	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:56701796G>A	ENST00000586855.2	-	5	1201	c.888C>T	c.(886-888)ccC>ccT	p.P296P	ZSCAN5B_ENST00000358992.3_Silent_p.P296P			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	296					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGCTTCTTTTGGGACTGCTCA	0.517000													53	106					0	0	0.00361006	0	0
TRIM29	23650	broad.mit.edu	37	11	120008370	120008370	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:120008370T>A	ENST00000341846.5	-	1	791	c.370A>T	c.(370-372)Aag>Tag	p.K124*		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	124					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AGCTCGCCCTTTTCGGCAAAG	0.632000													62	54					0	0	0.00361006	0	0
ADAM2	2515	broad.mit.edu	37	8	39626920	39626920	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:39626920C>T	ENST00000265708.4	-	12	1306	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G	ADAM2_ENST00000347580.4_Silent_p.G382G|ADAM2_ENST00000521880.1_Silent_p.G401G|ADAM2_ENST00000379853.2_Silent_p.G275G	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	401	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCTGTTCAGTCCCACAGTCAC	0.428000													18	30					0	0	0.00395357	0	0
OR8H3	390152	broad.mit.edu	37	11	55890328	55890328	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:55890328G>A	ENST00000313472.3	+	1	480	c.480G>A	c.(478-480)gtG>gtA	p.V160V		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTGTCAATGTGGTTTCCATGA	0.443000													36	65					0	0	0.00327116	0	0
ZNF728	388523	broad.mit.edu	37	19	23159296	23159296	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:23159296C>T	ENST00000594710.1	-	4	988	c.843G>A	c.(841-843)gaG>gaA	p.E281E		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TGTAGGGTTTCTCTCCAGCAT	0.418000													7	12					0	0	0.000274275	0	0
MAPK4	5596	broad.mit.edu	37	18	48190772	48190772	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:48190772G>A	ENST00000400384.2	+	2	1480	c.444G>A	c.(442-444)agG>agA	p.R148R	MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000588540.1_Silent_p.R148R|MAPK4_ENST00000592595.1_Silent_p.R148R|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	148	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGCTGCACAGGGACCTGAAGC	0.572000													9	30					0	0	0.000442599	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112030709	112030709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:112030709C>T	ENST00000374566.3	-	3	933	c.416G>A	c.(415-417)tGg>tAg	p.W139*	EPB41L4B_ENST00000374557.4_Nonsense_Mutation_p.W139*	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	139	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGATCCAGCCAGTGCTGAAA	0.368000													8	4					0	0	0.000274275	0	0
VAT1L	57687	broad.mit.edu	37	16	77918561	77918561	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:77918561C>T	ENST00000302536.2	+	7	1092	c.939C>T	c.(937-939)atC>atT	p.I313I		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	313							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						ACAAAGTCATCGCGGGGTTTT	0.507000													9	11					0	0	0.000978159	0	0
OR5T1	390155	broad.mit.edu	37	11	56043123	56043123	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:56043123G>A	ENST00000313033.2	+	1	95	c.9G>A	c.(7-9)ggG>ggA	p.G3G		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AAATGTCAGGGTTGCCTTCAG	0.318000													61	144					0	0	0.00361006	0	0
FLT1	2321	broad.mit.edu	37	13	28919657	28919657	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:28919657G>A	ENST00000282397.4	-	16	2531	c.2280C>T	c.(2278-2280)atC>atT	p.I760I	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	760					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATGTTAGAGTGATCAGCTCCA	0.413000													7	14					0	0	0.00307968	0	0
NF1	4763	broad.mit.edu	37	17	29701167	29701167	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:29701167C>T	ENST00000358273.4	+	58	8897	c.8514C>T	c.(8512-8514)atC>atT	p.I2838I	NF1_ENST00000444181.2_Intron|NF1_ENST00000356175.3_Silent_p.I2817I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2838					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.I2838I(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTAAGAAGATCGTGTGAAGCT	0.478000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			10	19					0	0	0.000673444	0	0
CNNM2	54805	broad.mit.edu	37	10	104831540	104831540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:104831540C>T	ENST00000369878.3	+	6	2301	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F	CNNM2_ENST00000475511.1_Intron|CNNM2_ENST00000433628.2_Intron|CNNM2_ENST00000457502.2_Missense_Mutation_p.S484F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	726					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTTCCTTTGTCCCTGTCTCGT	0.448000													26	89					0	0	0.00178596	0	0
GALNT5	11227	broad.mit.edu	37	2	158142569	158142569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:158142569C>T	ENST00000259056.4	+	3	2149	c.1664C>T	c.(1663-1665)cCa>cTa	p.P555L		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	555	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TCCCAGTTTCCAAAAGTTCGG	0.378000													13	14					0	0	0.00185496	0	0
MRPL47	57129	broad.mit.edu	37	3	179316479	179316479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:179316479G>A	ENST00000476781.1	-	4	415	c.386C>T	c.(385-387)cCa>cTa	p.P129L	MRPL47_ENST00000392659.2_Missense_Mutation_p.P19L|MRPL47_ENST00000259038.2_Missense_Mutation_p.P109L	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	129					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TAACCGCTCTGGACTTGGCAT	0.433000													33	85					0	0	0.000953801	0	0
PTDSS2	81490	broad.mit.edu	37	11	479146	479146	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:479146C>T	ENST00000308020.5	+	4	605	c.429C>T	c.(427-429)ctC>ctT	p.L143L	PTDSS2_ENST00000530087.1_3'UTR	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	143						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	TCTTTATACTCTTCCAGGTAA	0.532000													56	99					0	0	0.00361006	0	0
LRIG3	121227	broad.mit.edu	37	12	59284549	59284549	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:59284549G>C	ENST00000320743.3	-	4	699	c.413C>G	c.(412-414)cCt>cGt	p.P138R	LRIG3_ENST00000379141.4_Missense_Mutation_p.P78R	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	138						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CAGATGTTCAGGGAGTATTTC	0.373000			T	ROS1	NSCLC								13	30					0	0	0.00316338	0	0
SNX33	257364	broad.mit.edu	37	15	75942128	75942128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:75942128C>T	ENST00000308527.5	+	1	1882	c.685C>T	c.(685-687)Cca>Tca	p.P229S		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	229					cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CAATCCCCACCCATTTGCCTG	0.557000													23	65					0	0	0.000720815	0	0
TMEM40	55287	broad.mit.edu	37	3	12785412	12785412	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:12785412C>T	ENST00000314124.7	-	4	644	c.288G>A	c.(286-288)ggG>ggA	p.G96G	TMEM40_ENST00000264728.8_Silent_p.G96G|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_Intron|TMEM40_ENST00000431022.2_Silent_p.G112G	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	96						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						GTGAGCCGTTCCCGTGGGGGT	0.542000													9	26					0	0	0.000442599	0	0
TRAV4	28689	broad.mit.edu	37	14	22205159	22205159	+	RNA	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:22205159G>A	ENST00000390426.2	+	0	290																											AGTTACAAACGAAGTGGCCTC	0.488000													4	8					0	0	0.000602214	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274319	39274319	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:39274319G>C	ENST00000391413.2	-	1	287	c.249C>G	c.(247-249)agC>agG	p.S83R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	83	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.S83R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTTGCAGCAGCTGGACACAC	0.662000													6	21					0	0	0.00307968	0	0
BSND	7809	broad.mit.edu	37	1	55472798	55472798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:55472798C>T	ENST00000371265.4	+	3	655	c.401C>T	c.(400-402)cCt>cTt	p.P134L		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	134						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						TTGCTGGCCCCTGAGATGGGG	0.617000													18	47					0	0	0.000958276	0	0
SATB1	6304	broad.mit.edu	37	3	18390942	18390942	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:18390942T>G	ENST00000338745.6	-	11	3746	c.2012A>C	c.(2011-2013)gAc>gCc	p.D671A	SATB1_ENST00000454909.2_Missense_Mutation_p.D671A|SATB1_ENST00000417717.2_Missense_Mutation_p.D703A|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	671					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGCCTCTTCGTCAGGGTACAG	0.522000													33	82					0	0	0.00209593	0	0
GPLD1	2822	broad.mit.edu	37	6	24448199	24448199	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:24448199G>A	ENST00000230036.1	-	17	1694	c.1584C>T	c.(1582-1584)ccC>ccT	p.P528P		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	528						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TGACCAGATCGGGTTCACTGT	0.522000													8	26					0	0	0.000442599	0	0
COL6A6	131873	broad.mit.edu	37	3	130311917	130311917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:130311917G>A	ENST00000358511.6	+	15	4415	c.4384G>A	c.(4384-4386)Gaa>Aaa	p.E1462K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E1462K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1462	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGAAGTTGGGGAAAATGGAAT	0.368000													73	234					0	0	0.00361006	0	0
FAM83B	222584	broad.mit.edu	37	6	54806491	54806491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:54806491C>T	ENST00000306858.7	+	5	2838	c.2722C>T	c.(2722-2724)Cct>Tct	p.P908S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	908										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTTGTTACCCCTGAAAGAAG	0.463000													24	43					0	0	0.000720815	0	0
NDST4	64579	broad.mit.edu	37	4	115767017	115767017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:115767017G>A	ENST00000264363.2	-	10	2755	c.2077C>T	c.(2077-2079)Ctc>Ttc	p.L693F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	693	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGGTCAATGAGGATGGTGATG	0.428000													29	51					0	0	0.00148497	0	0
GLI1	2735	broad.mit.edu	37	12	57865691	57865691	+	Silent	SNP	C	C	A	rs138630661		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:57865691C>A	ENST00000228682.2	+	12	3259	c.3168C>A	c.(3166-3168)ccC>ccA	p.P1056P	GLI1_ENST00000543426.1_Silent_p.P928P|GLI1_ENST00000546141.1_Silent_p.P1015P	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1056					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.P1056P(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGATGAGCCCCAGGGGCTGA	0.587000													7	142					0.000274275	0.000624509	0.000274275	1	0
PAK7	57144	broad.mit.edu	37	20	9546830	9546830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:9546830C>T	ENST00000378429.3	-	6	1738	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	PAK7_ENST00000353224.5_Missense_Mutation_p.A398T|PAK7_ENST00000378423.1_Missense_Mutation_p.A398T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	398	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGGTAGGAAGCCGTGGAGATG	0.617000													16	30					0	0	0.00400662	0	0
TTPAL	79183	broad.mit.edu	37	20	43108798	43108798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:43108798G>A	ENST00000372904.3	+	3	302	c.159G>A	c.(157-159)tgG>tgA	p.W53*	TTPAL_ENST00000262605.4_Nonsense_Mutation_p.W53*|TTPAL_ENST00000372906.2_Nonsense_Mutation_p.W53*	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	53						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AGCCGGAATGGAGACTTCGAG	0.597000													9	13					0	0	0.000442599	0	0
PSG2	5670	broad.mit.edu	37	19	43586677	43586677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:43586677C>T	ENST00000406487.1	-	1	143	c.45G>A	c.(43-45)tgG>tgA	p.W15*	PSG2_ENST00000491995.1_5'UTR	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	15					cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGAGCCCCTTCCATTTGATGT	0.577000													43	89					0	0	0.00361006	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		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.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			38	83					0	0	0.00170553	0	0
FAAH2	158584	broad.mit.edu	37	X	57405110	57405110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:57405110C>T	ENST00000374900.4	+	6	889	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	257						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGGTCAGTTTCCCTTGGCTGT	0.507000										HNSCC(52;0.14)			36	12					0	0	0.00111076	0	0
PAPPA	5069	broad.mit.edu	37	9	119158869	119158869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:119158869G>A	ENST00000328252.3	+	22	5227	c.4858G>A	c.(4858-4860)Gac>Aac	p.D1620N	PAPPA_ENST00000534838.1_Missense_Mutation_p.D658N|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1620					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAGCCGGAAAGACCTCCGGGG	0.522000													17	31					0	0	0.00074312	0	0
SSH3	54961	broad.mit.edu	37	11	67077252	67077252	+	Missense_Mutation	SNP	C	C	T	rs149176266		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:67077252C>T	ENST00000308127.4	+	12	1400	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Missense_Mutation_p.H408Y	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	408	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ACAGGGCACCCACGTGCTGGT	0.647000													15	35					0	0	0.000566183	0	0
TMEM132A	54972	broad.mit.edu	37	11	60704034	60704034	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:60704034G>A	ENST00000005286.4	+	11	2883	c.2730G>A	c.(2728-2730)ctG>ctA	p.L910L	TMEM132A_ENST00000453848.2_Silent_p.L909L	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	909	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCGCCAGCTGGACCGGCAGT	0.716000													8	20					0	0	0.000274275	0	0
KIF4B	285643	broad.mit.edu	37	5	154395342	154395342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:154395342G>A	ENST00000435029.4	+	1	2083	c.1923G>A	c.(1921-1923)tgG>tgA	p.W641*		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	641				W -> R (in Ref. 1; AF241316).	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGAGATATGGATGATGAAAA	0.393000													30	59					0	0	0.00178596	0	0
PRUNE2	158471	broad.mit.edu	37	9	79259754	79259754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:79259754C>T	ENST00000428286.1	-	12	8755	c.7555G>A	c.(7555-7557)Gag>Aag	p.E2519K	PRUNE2_ENST00000443509.2_Missense_Mutation_p.E126K|PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2877K|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000223609.6_Missense_Mutation_p.E142K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2877					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGGTTGTCCTCCCGTTCCTCT	0.512000													15	12					0	0	0.00244969	0	0
CDC25A	993	broad.mit.edu	37	3	48215944	48215944	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:48215944T>A	ENST00000302506.3	-	9	1168	c.760A>T	c.(760-762)Aac>Tac	p.N254Y	CDC25A_ENST00000459900.1_5'UTR|CDC25A_ENST00000351231.3_Missense_Mutation_p.N214Y	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	254					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTGCATCGGTTGTCCTTACAG	0.458000													17	38					0	0	0.00074312	0	0
CCDC115	84317	broad.mit.edu	37	2	131099616	131099616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:131099616C>T	ENST00000259229.2	-	1	306	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	CCDC115_ENST00000409127.1_Intron|CCDC115_ENST00000437688.2_Intron	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	28						endosome|lysosome				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					CAACACCGTTCGTTTCCCCTC	0.652000													15	56					0	0	0.00074312	0	0
SIN3B	23309	broad.mit.edu	37	19	16962281	16962281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:16962281C>T	ENST00000379803.1	+	6	799	c.785C>T	c.(784-786)aCc>aTc	p.T262I	SIN3B_ENST00000248054.5_Missense_Mutation_p.T262I|SIN3B_ENST00000596802.1_Missense_Mutation_p.T262I	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	262					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACGACAAGACCCCGGAGCAC	0.652000													23	52					0	0	0.00229938	0	0
MYH13	8735	broad.mit.edu	37	17	10216666	10216666	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:10216666C>A	ENST00000418404.3	-	29	4153	c.3990G>T	c.(3988-3990)aaG>aaT	p.K1330N	MYH13_ENST00000252172.4_Missense_Mutation_p.K1330N|MYH13_ENST00000570743.1_Missense_Mutation_p.K1330N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1330					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCATGGCGTTCTTGGCCTGGG	0.527000													36	61					3.76114e-14	8.68359e-14	0.00428921	1	0
ZNF665	79788	broad.mit.edu	37	19	53668429	53668429	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:53668429G>A	ENST00000600412.1	-	2	1234	c.1119C>T	c.(1117-1119)gcC>gcT	p.A373A	ZNF665_ENST00000396424.3_Silent_p.A438A			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GCACACTAAAGGCTTTGCCAC	0.413000													23	26					0	0	0.00278032	0	0
COX10	1352	broad.mit.edu	37	17	14110520	14110520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:14110520C>T	ENST00000261643.3	+	7	1399	c.1322C>T	c.(1321-1323)cCt>cTt	p.P441L	COX10_ENST00000536205.1_Missense_Mutation_p.P249L|COX10_ENST00000537334.1_Missense_Mutation_p.P224L	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	441					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GCAGGGCCCCCTCCCAGCTGA	0.642000													5	11					0	0	0.00116845	0	0
MME	4311	broad.mit.edu	37	3	154886390	154886390	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:154886390C>T	ENST00000460393.1	+	19	2010	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	MME_ENST00000492661.1_Silent_p.S630S|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Silent_p.S630S|MME_ENST00000493237.1_Silent_p.S630S|MME_ENST00000462745.1_Silent_p.S630S	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	630					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GAAACTTTTCCTGGGACCTGG	0.403000													17	52					0	0	0.00188189	0	0
LFNG	3955	broad.mit.edu	37	7	2565089	2565089	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:2565089G>C	ENST00000222725.5	+	4	643	c.623G>C	c.(622-624)cGg>cCg	p.R208P	LFNG_ENST00000402506.1_Missense_Mutation_p.R137P|LFNG_ENST00000338732.3_Missense_Mutation_p.R79P|LFNG_ENST00000359574.3_Missense_Mutation_p.R208P|LFNG_ENST00000402045.1_Missense_Mutation_p.R79P	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	208					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GTCAACCTGCGGGCCCTGCTG	0.701000													10	19					0	0	0.000673444	0	0
BAX	581	broad.mit.edu	37	19	49464236	49464236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:49464236C>T	ENST00000293288.8	+	5	539	c.539C>T	c.(538-540)tCc>tTc	p.S180F	BAX_ENST00000354470.3_Intron|BAX_ENST00000391871.3_Intron|BAX_ENST00000539787.1_Intron|BAX_ENST00000415969.2_Intron|BAX_ENST00000345358.7_Intron	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	0					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		gccccaccgtccctgcccccC	0.652000													12	17					0	0	0.000978159	0	0
TMEM159	57146	broad.mit.edu	37	16	21181806	21181806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:21181806C>T	ENST00000233047.4	+	3	613	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S	TMEM159_ENST00000451578.2_Missense_Mutation_p.P73S|TMEM159_ENST00000572258.1_Missense_Mutation_p.P49S|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572599.1_Missense_Mutation_p.P49S|TMEM159_ENST00000261388.3_Missense_Mutation_p.P49S			Q96B96	TM159_HUMAN	transmembrane protein 159	49						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		GGACAGCCATCCGTTTCTGGC	0.537000													46	94					0	0	0.00361006	0	0
UNC13C	440279	broad.mit.edu	37	15	54306718	54306718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:54306718G>A	ENST00000545554.1	+	1	1618	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D540N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D540N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	540					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCACAGAGTGATTTTTTCAC	0.368000													17	15					0	0	0.00074312	0	0
ANO10	55129	broad.mit.edu	37	3	43618707	43618707	+	Silent	SNP	T	T	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:43618707T>G	ENST00000292246.3	-	6	809	c.639A>C	c.(637-639)ggA>ggC	p.G213G	ANO10_ENST00000414522.2_Silent_p.G213G|ANO10_ENST00000451430.2_Silent_p.G102G|ANO10_ENST00000396091.3_Silent_p.G147G|ANO10_ENST00000350459.4_Intron	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	213					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ACTCCAAAAATCCAAAGTACA	0.368000													5	22					0	0	0.00116845	0	0
BANF1	8815	broad.mit.edu	37	11	65770751	65770751	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:65770751C>T	ENST00000312175.2	+	2	538	c.30C>T	c.(28-30)ttC>ttT	p.F10F	BANF1_ENST00000524628.1_Intron|BANF1_ENST00000533166.1_Silent_p.F10F|BANF1_ENST00000527348.1_Silent_p.F10F|BANF1_ENST00000445560.2_Silent_p.F10F	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1	10					initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding			large_intestine(2)|prostate(1)	3						ACCGAGACTTCGTGGCAGAGC	0.532000													6	19					0	0	0.00307968	0	0
CTNND2	1501	broad.mit.edu	37	5	11098745	11098745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:11098745G>A	ENST00000304623.8	-	15	2768	c.2579C>T	c.(2578-2580)cCa>cTa	p.P860L	CTNND2_ENST00000503622.1_Missense_Mutation_p.P523L|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000511377.1_Missense_Mutation_p.P769L|CTNND2_ENST00000458100.2_Missense_Mutation_p.P427L|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	860					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGCGTGTCTGGATTTGAGCA	0.522000													16	36					0	0	0.00074312	0	0
SEC14L4	284904	broad.mit.edu	37	22	30888480	30888480	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:30888480C>T	ENST00000392772.2	-	8	760	c.483G>A	c.(481-483)agG>agA	p.R161R	SEC14L4_ENST00000540456.1_Silent_p.R200R|SEC14L4_ENST00000255858.7_Silent_p.R215R|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000381982.3_Silent_p.R215R			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	215	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TCACAATCTTCCTGCGTGTCT	0.537000													9	14					0	0	0.000442599	0	0
MROH2B	133558	broad.mit.edu	37	5	41000823	41000823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:41000823G>A	ENST00000399564.4	-	38	4757	c.4307C>T	c.(4306-4308)tCa>tTa	p.S1436L	MROH2B_ENST00000506092.2_Missense_Mutation_p.S991L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CAGAAGGAATGAAATCAGGCT	0.473000													8	11					0	0	0.000442599	0	0
SPTB	6710	broad.mit.edu	37	14	65239389	65239389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:65239389G>A	ENST00000389722.3	-	25	5515	c.5462C>T	c.(5461-5463)cCc>cTc	p.P1821L	SPTB_ENST00000556626.1_Missense_Mutation_p.P1821L|SPTB_ENST00000542895.1_Missense_Mutation_p.P1821L|SPTB_ENST00000389720.3_Missense_Mutation_p.P1821L|SPTB_ENST00000389721.5_Missense_Mutation_p.P1821L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1821					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CACGTCCTCGGGCAGCTCGCG	0.667000													22	49					0	0	0.00332997	0	0
HNRNPH3	3189	broad.mit.edu	37	10	70097677	70097677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:70097677G>A	ENST00000265866.7	+	3	340	c.175G>A	c.(175-177)Gag>Aag	p.E59K	HNRNPH3_ENST00000441000.2_Intron|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.E59K|HNRNPH3_ENST00000469172.1_3'UTR	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	59	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						AAGCACAGGGGAGGCCTTCGT	0.498000													31	64					0	0	0.00283554	0	0
TGFBR2	7048	broad.mit.edu	37	3	30729980	30729980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:30729980C>T	ENST00000295754.5	+	6	1883	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S	TGFBR2_ENST00000359013.4_Missense_Mutation_p.P526S	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	501	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACCAGAAATTCCCAGCTTCTG	0.478000													12	30					0	0	0.00316338	0	0
TTN	7273	broad.mit.edu	37	2	179497428	179497428	+	Silent	SNP	G	G	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179497428G>T	ENST00000589042.1	-	235	43529	c.43305C>A	c.(43303-43305)ccC>ccA	p.P14435P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P5370P|TTN_ENST00000359218.5_Silent_p.P5495P|TTN_ENST00000342175.6_Silent_p.P5562P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P11867P|TTN_ENST00000591111.1_Silent_p.P12794P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12794	Fibronectin type-III 4.						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)			GGAATGTTTTGGGCTCCCTGG	0.418000													6	155					0.00198382	0.00450575	0.00198382	1	0
SYVN1	84447	broad.mit.edu	37	11	64898200	64898200	+	Missense_Mutation	SNP	G	G	T	rs143801580	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:64898200G>T	ENST00000526060.1	-	11	1229	c.1037C>A	c.(1036-1038)cCg>cAg	p.P346Q	SYVN1_ENST00000307289.6_Missense_Mutation_p.P295Q|SYVN1_ENST00000377190.3_Missense_Mutation_p.P346Q|SYVN1_ENST00000294256.8_Missense_Mutation_p.P346Q|SYVN1_ENST00000526121.1_5'UTR			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	346	Pro-rich.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CGCAGGCTCCGGGGGTGGTGG	0.687000													8	29					1.12685e-05	2.56899e-05	0.000274275	1	0
IGHV3-7	28452	broad.mit.edu	37	14	106518559	106518559	+	RNA	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:106518559C>T	ENST00000390598.2	-	0	270																											CCACCCACTCCAGCCCCTTCC	0.552000													32	55					0	0	0.00375469	0	0
REV3L	5980	broad.mit.edu	37	6	111688351	111688351	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:111688351G>T	ENST00000435970.1	-	16	7222	c.6406C>A	c.(6406-6408)Cct>Act	p.P2136T	REV3L_ENST00000358835.3_Missense_Mutation_p.P2214T|REV3L_ENST00000368802.3_Missense_Mutation_p.P2214T|REV3L_ENST00000368805.1_Missense_Mutation_p.P2214T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2214					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGTGCTTCAGGAAGCCTTTCC	0.373000								DNA polymerases (catalytic subunits)					28	30					2.61193e-14	6.03802e-14	0.00178596	1	0
ZNF211	10520	broad.mit.edu	37	19	58153069	58153069	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:58153069C>T	ENST00000544273.1	+	5	1578	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S	ZNF211_ENST00000541801.1_Silent_p.S396S|ZNF211_ENST00000299871.5_Silent_p.S470S|ZNF211_ENST00000420680.1_Silent_p.S409S|ZNF211_ENST00000391703.3_Silent_p.S344S|ZNF211_ENST00000347302.3_Silent_p.S405S|ZNF211_ENST00000254182.7_Silent_p.S396S|ZNF211_ENST00000240731.4_Silent_p.S418S			Q13398	ZN211_HUMAN	zinc finger protein 211	405						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGAAAATCCTTTAGCCGAA	0.458000													20	34					0	0	0.00229938	0	0
AMFR	267	broad.mit.edu	37	16	56435650	56435650	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:56435650G>A	ENST00000290649.5	-	8	1290	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	360					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CCTACTTGTGGAAAAGATGTC	0.557000													25	61					0	0	0.00127121	0	0
DDX19B	11269	broad.mit.edu	37	16	70351453	70351453	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:70351453G>A	ENST00000288071.6	+	5	596	c.351G>A	c.(349-351)aaG>aaA	p.K117K	RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Silent_p.K117K|DDX19B_ENST00000563206.1_Silent_p.K122K|DDX19B_ENST00000570055.1_3'UTR|DDX19B_ENST00000451014.3_Intron|DDX19B_ENST00000563392.1_Silent_p.K8K|DDX19B_ENST00000393657.2_Silent_p.K8K|DDX19B_ENST00000355992.3_Intron|DDX19B_ENST00000568625.1_Silent_p.K8K	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	117					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GTCCATCCAAGATACAAGAGA	0.383000													18	62					0	0	0.000720815	0	0
PXDNL	137902	broad.mit.edu	37	8	52320808	52320808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:52320808G>A	ENST00000356297.4	-	17	3476	c.3376C>T	c.(3376-3378)Ctc>Ttc	p.L1126F	PXDNL_ENST00000543296.1_Missense_Mutation_p.L1126F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1126					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCGGAGAAGAGCCTCTGGGTC	0.577000													37	71					0	0	0.00428921	0	0
RNASE11	122651	broad.mit.edu	37	14	21052207	21052207	+	Missense_Mutation	SNP	G	G	A	rs112711544		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:21052207G>A	ENST00000335950.4	-	3	889	c.427C>T	c.(427-429)Cct>Tct	p.P143S	RNASE11_ENST00000398009.2_Missense_Mutation_p.P143S|RNASE11_ENST00000555841.1_Missense_Mutation_p.P143S|RNASE11_ENST00000398008.2_Missense_Mutation_p.P143S|RNASE11_ENST00000553849.1_Missense_Mutation_p.P143S|RNASE11_ENST00000432835.2_Missense_Mutation_p.P143S	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	143						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		CTTATGCCAGGATTCTGTACA	0.512000													12	14					0	0	0.000978159	0	0
CHST8	64377	broad.mit.edu	37	19	34180240	34180240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:34180240C>T	ENST00000262622.3	+	2	831	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	CHST8_ENST00000434302.1_Missense_Mutation_p.L25F|CHST8_ENST00000604556.1_Missense_Mutation_p.L25F|CHST8_ENST00000438847.2_Missense_Mutation_p.L25F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	25					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AGCTGCAGGCCTCCTCCTCTT	0.637000													42	69					0	0	0.00321405	0	0
CERKL	375298	broad.mit.edu	37	2	182403898	182403898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:182403898C>T	ENST00000410087.3	-	12	1559	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	CERKL_ENST00000409440.3_Missense_Mutation_p.D469N|CERKL_ENST00000374970.2_Missense_Mutation_p.D418N|CERKL_ENST00000339098.5_Missense_Mutation_p.D513N|CERKL_ENST00000374969.2_Missense_Mutation_p.D374N	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	513					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCAGTTTCATCCTCCTCCTCC	0.368000													33	45					0	0	0.00428921	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564927	46564927	+	Missense_Mutation	SNP	G	G	A	rs139294318	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:46564927G>A	ENST00000458649.2	-	7	1058	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	AMBRA1_ENST00000534300.1_Missense_Mutation_p.P214S|AMBRA1_ENST00000528950.1_Missense_Mutation_p.P214S|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P214S|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P214S|AMBRA1_ENST00000298834.3_Missense_Mutation_p.P214S|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P214S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	214					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCATCTATGGGGATCTCTGGT	0.527000													15	45					0	0	0.000566183	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503944	140503944	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:140503944C>T	ENST00000194152.1	+	1	2364	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		788					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCCAAGTTCAGAAATAGCT	0.408000													18	24					0	0	0.00152264	0	0
RASSF6	166824	broad.mit.edu	37	4	74453578	74453578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:74453578C>T	ENST00000307439.5	-	5	655	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	RASSF6_ENST00000395777.2_Missense_Mutation_p.E121K|RASSF6_ENST00000335049.5_Missense_Mutation_p.E109K|RASSF6_ENST00000342081.3_Missense_Mutation_p.E153K	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	153					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTCCTTTTTTCAGACATAGGA	0.368000													11	43					0	0	0.000978159	0	0
SLC52A2	79581	broad.mit.edu	37	8	145584131	145584131	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:145584131C>T	ENST00000532887.1	+	3	1562	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	SLC52A2_ENST00000329994.2_Silent_p.L327L|SLC52A2_ENST00000540505.1_Silent_p.L239L|SLC52A2_ENST00000530047.1_Silent_p.L327L|SLC52A2_ENST00000402965.1_Silent_p.L327L|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Silent_p.L327L			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	327						integral to plasma membrane	receptor activity|riboflavin transporter activity										GGCCTGCTTCCTGGCCATGGG	0.657000													27	61					0	0	0.00178596	0	0
AVEN	57099	broad.mit.edu	37	15	34159949	34159949	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:34159949G>A	ENST00000306730.3	-	5	849	c.720C>T	c.(718-720)ccC>ccT	p.P240P		NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	240					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		GCTCAAAGATGGGCCCCCTTC	0.547000													6	34					0	0	0.00198382	0	0
ABI1	10006	broad.mit.edu	37	10	27052863	27052863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:27052863C>T	ENST00000355394.4	-	8	1073	c.850G>A	c.(850-852)Gga>Aga	p.G284R	ABI1_ENST00000376139.2_Intron|ABI1_ENST00000376170.4_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000346832.5_Missense_Mutation_p.G300R|ABI1_ENST00000376142.2_Missense_Mutation_p.G283R|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376137.4_Intron			Q8IZP0	ABI1_HUMAN	abl-interactor 1	283	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTGGAGCTCCAGAAGGAGGA	0.408000													22	63					0	0	0.000720815	0	0
LCE3D	84648	broad.mit.edu	37	1	152552164	152552164	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:152552164G>A	ENST00000368787.3	-	2	305	c.249C>T	c.(247-249)ggC>ggT	p.G83G		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	83					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		CATGGCCGCAGCCAGAGCCCC	0.632000													39	79					0	0	0.00222228	0	0
RFPL1	5988	broad.mit.edu	37	22	29837592	29837592	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:29837592G>A	ENST00000354373.2	+	2	644	c.435G>A	c.(433-435)agG>agA	p.R145R	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	145	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						ACGACCTCAGGAGCGTCCGAA	0.507000													14	36					0	0	0.000566183	0	0
LIMCH1	22998	broad.mit.edu	37	4	41686475	41686475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:41686475C>T	ENST00000313860.7	+	22	2809	c.2755C>T	c.(2755-2757)Cat>Tat	p.H919Y	LIMCH1_ENST00000511496.1_Missense_Mutation_p.H759Y|LIMCH1_ENST00000396595.3_Missense_Mutation_p.H764Y|LIMCH1_ENST00000512820.1_Missense_Mutation_p.H931Y|LIMCH1_ENST00000513024.1_Missense_Mutation_p.H772Y|LIMCH1_ENST00000509277.1_Missense_Mutation_p.H752Y|LIMCH1_ENST00000381753.4_Missense_Mutation_p.H752Y|LIMCH1_ENST00000514096.1_Missense_Mutation_p.H759Y|LIMCH1_ENST00000503057.1_Missense_Mutation_p.H1303Y|LIMCH1_ENST00000512946.1_Missense_Mutation_p.H919Y|LIMCH1_ENST00000508501.1_Missense_Mutation_p.H918Y|LIMCH1_ENST00000512632.1_Missense_Mutation_p.H842Y	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	919					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCATGAAGACCATCAGCTGGA	0.463000													9	29					0	0	0.000442599	0	0
COL6A6	131873	broad.mit.edu	37	3	130368262	130368262	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:130368262G>A	ENST00000358511.6	+	32	5620	c.5589G>A	c.(5587-5589)acG>acA	p.T1863T	COL6A6_ENST00000453409.2_Silent_p.T1863T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1863	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGGCACACACGAGAAAAATCG	0.552000													7	12					0	0	0.00198382	0	0
FAM183B	340286	broad.mit.edu	37	7	38725305	38725305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:38725305C>T	ENST00000409072.3	-	2	1235	c.301G>A	c.(301-303)Gac>Aac	p.D101N						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						CGTTCTGGGTCGACCAAGGCT	0.522000													44	90					0	0	0.0025221	0	0
ADSS	159	broad.mit.edu	37	1	244583515	244583515	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:244583515G>A	ENST00000366535.3	-	8	1063	c.747C>T	c.(745-747)atC>atT	p.I249I	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	249					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	CTTCTACCAAGATTTTCTTTG	0.353000													22	33					0	0	0.00229938	0	0
MAST1	22983	broad.mit.edu	37	19	12975694	12975694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:12975694G>A	ENST00000251472.4	+	13	1477	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	480	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GTACTTTGCTGAGACGGTGCT	0.562000													12	34					0	0	0.00136819	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033147	82033147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:82033147G>A	ENST00000328945.5	-	3	878	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	251					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						ATGAAGTAGGGCTGCCCAGAG	0.562000													29	64					0	0	0.00106085	0	0
ADAM30	11085	broad.mit.edu	37	1	120437244	120437244	+	Silent	SNP	C	C	T	rs145951922	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:120437244C>T	ENST00000369400.1	-	1	1874	c.1716G>A	c.(1714-1716)acG>acA	p.T572T		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	572	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAATTATAGTCGTATGCTCTG	0.398000													185	384					0	0	0.00361006	0	0
MIXL1	83881	broad.mit.edu	37	1	226413252	226413252	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:226413252G>A	ENST00000366810.5	+	2	502	c.438G>A	c.(436-438)ggG>ggA	p.G146G	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Silent_p.G154G			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	146					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GTCAGAGTGGGAAATCCTTCC	0.493000													40	74					0	0	0.00361006	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939042	2939042	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:2939042C>T	ENST00000378404.2	+	1	997	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	264						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AGGCCCTGTTCGTGCCCCAGC	0.642000													24	72					0	0	0.00278032	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657338	40657338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:40657338G>A	ENST00000406785.1	-	2	272	c.83C>T	c.(82-84)tCc>tTc	p.S28F	SLC8A1_ENST00000406391.2_Missense_Mutation_p.S28F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S28F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S28F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S28F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S28F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S28F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S28F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S28F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S28F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	28					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCCACATGGGAAAATAAGAG	0.403000													21	35					0	0	0.00188189	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994718	140994718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:140994718C>T	ENST00000285879.4	+	4	1814	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	510							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGTTTTCCCCAGTCTCC	0.507000										HNSCC(15;0.026)			55	25					0	0	0.00361006	0	0
BAGE2	85319	broad.mit.edu	37	21	11058350	11058350	+	RNA	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:11058350C>T	ENST00000470054.1	-	0	324									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)		AGAGAAATCTCTTTATAAAAC	0.343000													4	67					0	0	0.00024832	0	0
WDR93	56964	broad.mit.edu	37	15	90281396	90281396	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:90281396G>A	ENST00000268130.7	+	16	1991	c.1890G>A	c.(1888-1890)agG>agA	p.R630R	WDR93_ENST00000444934.2_Silent_p.R347R|WDR93_ENST00000560294.1_Silent_p.R602R	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	630					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCCTCAAAGGGACTTGGATA	0.468000													65	141					0	0	0.00361006	0	0
ITK	3702	broad.mit.edu	37	5	156676015	156676015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:156676015G>A	ENST00000422843.3	+	16	1941	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	597	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E597K(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCTGGAAAGAGGTCAGTGG	0.522000			T	SYK	peripheral T-cell lymphoma								74	173					0	0	0.00361006	0	0
CRB1	23418	broad.mit.edu	37	1	197298036	197298036	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:197298036G>A	ENST00000367400.3	+	2	690	c.555G>A	c.(553-555)ttG>ttA	p.L185L	CRB1_ENST00000535699.1_Silent_p.L116L|CRB1_ENST00000367399.2_Silent_p.L185L|CRB1_ENST00000538660.1_Silent_p.L185L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	185					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACTGCGACTTGGAAGTGGATG	0.483000													12	28					0	0	0.000978159	0	0
SPOCK3	50859	broad.mit.edu	37	4	167713375	167713375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:167713375C>T	ENST00000357154.3	-	8	801	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	SPOCK3_ENST00000506886.1_Missense_Mutation_p.E222K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E171K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E222K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E124K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E102K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E219K|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E222K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E126K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E124K|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E219K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E219K|SPOCK3_ENST00000512648.1_Missense_Mutation_p.E219K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	222					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTTCCACTTTCATGAAGGGCC	0.403000													12	33					0	0	0.00136819	0	0
ZNF160	90338	broad.mit.edu	37	19	53572054	53572054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:53572054G>A	ENST00000601421.1	-	3	2501	c.1625C>T	c.(1624-1626)tCa>tTa	p.S542L	ZNF160_ENST00000599056.1_Missense_Mutation_p.S578L|ZNF160_ENST00000429604.1_Missense_Mutation_p.S578L|ZNF160_ENST00000418871.1_Missense_Mutation_p.S578L			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	578					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGCAAGTTGTGATGTTTGAGC	0.403000													24	63					0	0	0.001512	0	0
PKD1L2	114780	broad.mit.edu	37	16	81236314	81236314	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:81236314A>G	ENST00000599697.1	-	6	933	c.934T>C	c.(934-936)Ttc>Ctc	p.F312L	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	312					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGAGATGTGAACTGGTGGGTC	0.537000													8	16					0	0	0.00307968	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72509717	72509717	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:72509717C>T	ENST00000373208.1	+	16	2412	c.2412C>T	c.(2410-2412)ccC>ccT	p.P804P	ADAMTS14_ENST00000373207.1_Silent_p.P801P	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	801	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCAGCGGGCCCCTGCCTGAAG	0.642000													14	35					0	0	0.00400662	0	0
BTN1A1	696	broad.mit.edu	37	6	26509342	26509342	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:26509342G>A	ENST00000244513.6	+	7	1587	c.1521G>A	c.(1519-1521)agG>agA	p.R507R		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	507						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CTGCCCCTAGGGATGCAGACA	0.527000													33	87					0	0	0.00111076	0	0
ZNF276	92822	broad.mit.edu	37	16	89789747	89789747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:89789747C>T	ENST00000568064.1	+	4	682	c.392C>T	c.(391-393)cCc>cTc	p.P131L	ZNF276_ENST00000289816.5_Silent_p.A137A|ZNF276_ENST00000443381.2_Silent_p.A212A|ZNF276_ENST00000446326.2_Missense_Mutation_p.P9L			Q8N554	ZN276_HUMAN	zinc finger protein 276	212	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCTGCGGGGCCCTGCCCCACC	0.632000													14	27					0	0	0.00185496	0	0
ADAM29	11086	broad.mit.edu	37	4	175898526	175898526	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:175898526A>T	ENST00000359240.3	+	5	2520	c.1850A>T	c.(1849-1851)cAt>cTt	p.H617L	ADAM29_ENST00000514159.1_Missense_Mutation_p.H617L|ADAM29_ENST00000445694.1_Missense_Mutation_p.H617L|ADAM29_ENST00000404450.4_Missense_Mutation_p.H617L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	617	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CACTGTGTCCATATAACCATC	0.423000													31	48					0	0	0.00327116	0	0
RTDR1	27156	broad.mit.edu	37	22	23403994	23403994	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:23403994G>A	ENST00000216036.4	-	6	979	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	261							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CACCTTCAGTGATCACTGTGG	0.597000													13	25					0	0	0.00400662	0	0
GRIN2B	2904	broad.mit.edu	37	12	13720066	13720066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:13720066G>A	ENST00000279593.3	-	12	2700	c.2491C>T	c.(2491-2493)Ctc>Ttc	p.L831F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	831					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L831I(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGAGGCTGAGAGCCATGGCC	0.512000													19	51					0	0	0.00152264	0	0
TPTE	7179	broad.mit.edu	37	21	10916422	10916422	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:10916422G>A	ENST00000298232.7	-	19	1537	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Silent_p.L370L|TPTE_ENST00000361285.4_Silent_p.L408L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	408	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		GTCTTGGAGGGAGATTCCAGT	0.363000													10	146					0	0	0.00400662	0	0
LRTM1	57408	broad.mit.edu	37	3	54958975	54958975	+	Missense_Mutation	SNP	C	C	T	rs141303357	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:54958975C>T	ENST00000273286.5	-	2	437	c.275G>A	c.(274-276)gGa>gAa	p.G92E	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G16E	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	92						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ATGGAAAGCTCCAGGGGCCAG	0.463000													17	20					0	0	0.00400662	0	0
PRLR	5618	broad.mit.edu	37	5	35070327	35070327	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:35070327C>A	ENST00000382002.5	-	7	1010	c.584G>T	c.(583-585)aGc>aTc	p.S195I	PRLR_ENST00000342362.5_Missense_Mutation_p.S94I|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000542609.1_Missense_Mutation_p.S195I|PRLR_ENST00000511486.1_Missense_Mutation_p.S94I|PRLR_ENST00000513753.1_Missense_Mutation_p.S195I|PRLR_ENST00000397391.3_Missense_Mutation_p.S124I|PRLR_ENST00000348262.3_Missense_Mutation_p.S195I|PRLR_ENST00000310101.5_Missense_Mutation_p.S195I|PRLR_ENST00000231423.3_Missense_Mutation_p.S195I	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	195	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGATGTAGGCTGAGAATCTT	0.428000													11	29					9.70103e-10	2.22842e-09	0.000673444	1	0
TNXB	7148	broad.mit.edu	37	6	32052376	32052376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:32052376C>T	ENST00000375244.3	-	8	3460	c.3259G>A	c.(3259-3261)Ggc>Agc	p.G1087S	TNXB_ENST00000375247.2_Missense_Mutation_p.G1087S			P22105	TENX_HUMAN	tenascin XB	1174	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCAAACTCGCCCTCGGGGACC	0.657000													120	283					0	0	0.00361006	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180738	142180738	+	RNA	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:142180738G>A	ENST00000390368.2	-	0	186																											TGGGCACACTGCAGTGTCATG	0.507000													22	259					0	0	0.000878237	0	0
SPRR4	163778	broad.mit.edu	37	1	152944543	152944543	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:152944543C>T	ENST00000328051.2	+	2	226	c.177C>T	c.(175-177)acC>acT	p.T59T		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	59	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGAAAGGCACCATCATTCCAG	0.527000													21	42					0	0	0.00152264	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510200	77510200	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:77510200C>T	ENST00000477717.1	+	3	808	c.573C>T	c.(571-573)ctC>ctT	p.L191L		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	191					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						ACCTGCATCTCCTGAGCCAGG	0.587000													42	82					0	0	0.00222228	0	0
VILL	50853	broad.mit.edu	37	3	38043243	38043243	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:38043243G>A	ENST00000283713.6	+	13	1637	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E	VILL_ENST00000383759.2_Silent_p.E457E|VILL_ENST00000465644.1_Silent_p.E175E			O15195	VILL_HUMAN	villin-like	457					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAACGCTGAGGAACTAGATG	0.612000													12	21					0	0	0.00185496	0	0
MMS22L	253714	broad.mit.edu	37	6	97610003	97610003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:97610003G>A	ENST00000275053.4	-	22	3525	c.3260C>T	c.(3259-3261)cCt>cTt	p.P1087L	MMS22L_ENST00000369251.2_Missense_Mutation_p.P1047L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1087					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCTAAGCGAGGAGGAGGTGA	0.413000													16	26					0	0	0.00074312	0	0
PCLO	27445	broad.mit.edu	37	7	82579822	82579822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:82579822G>A	ENST00000423517.2	-	6	10419	c.10082C>T	c.(10081-10083)gCt>gTt	p.A3361V	PCLO_ENST00000333891.8_Missense_Mutation_p.A3361V|PCLO_ENST00000437081.1_Missense_Mutation_p.A81V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3292					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCCACAACAGCTGAAGCTGT	0.483000													13	7					0	0	0.00136819	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450857	85450857	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:85450857G>A	ENST00000393217.2	+	8	2347	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	762										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCAACAAAAGAAAATTGTTA	0.378000													69	136					0	0	0.00361006	0	0
DCAF5	8816	broad.mit.edu	37	14	69521269	69521269	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:69521269G>A	ENST00000341516.5	-	9	2281	c.2134C>T	c.(2134-2136)Cta>Tta	p.L712L	DCAF5_ENST00000557386.1_Silent_p.L711L|DCAF5_ENST00000556847.1_Silent_p.L630L|DCAF5_ENST00000554215.1_Silent_p.L630L	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	712						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCTATGTTTAGACAGGCTTCC	0.547000													50	87					0	0	0.00361006	0	0
PACSIN2	11252	broad.mit.edu	37	22	43287005	43287005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:43287005G>A	ENST00000263246.3	-	4	602	c.401C>T	c.(400-402)gCt>gTt	p.A134V	PACSIN2_ENST00000337959.4_Missense_Mutation_p.A134V|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000407585.1_Missense_Mutation_p.A134V|PACSIN2_ENST00000403744.3_Missense_Mutation_p.A134V|PACSIN2_ENST00000402229.1_Missense_Mutation_p.A134V	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	134					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GCCGTCCTCAGCTTCCTTGGT	0.557000													12	17					0	0	0.00185496	0	0
SIN3B	23309	broad.mit.edu	37	19	16962282	16962282	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:16962282C>T	ENST00000379803.1	+	6	800	c.786C>T	c.(784-786)acC>acT	p.T262T	SIN3B_ENST00000248054.5_Silent_p.T262T|SIN3B_ENST00000596802.1_Silent_p.T262T	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	262					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACGACAAGACCCCGGAGCACA	0.652000													23	52					0	0	0.00229938	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55330026	55330026	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:55330026C>T	ENST00000391728.4	+	3	360	c.327C>T	c.(325-327)ccC>ccT	p.P109P	KIR3DL1_ENST00000326542.7_Silent_p.P109P|KIR3DL1_ENST00000541392.1_Silent_p.P109P|KIR3DL1_ENST00000538269.1_Silent_p.P109P|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000402254.2_Silent_p.P109P	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.P109P(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGTCGGCACCCAGCAACCCCG	0.602000													24	69					0	0	0.00332997	0	0
BDH1	622	broad.mit.edu	37	3	197238877	197238877	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:197238877G>A	ENST00000392379.1	-	8	1322	c.921C>T	c.(919-921)acC>acT	p.T307T	BDH1_ENST00000358186.2_Silent_p.T307T|BDH1_ENST00000392378.2_Silent_p.T307T|BDH1_ENST00000441275.1_Silent_p.T220T	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	307					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	p.T307T(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GGGTGGTGGCGGTCAGGGCGT	0.562000													51	78					0	0	0.00361006	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147032	55147032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:55147032G>A	ENST00000370862.3	+	7	1451	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	372					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGAAAATTTCGAGAGGAATTT	0.453000													7	18					0	0	0.00198382	0	0
SLC22A5	6584	broad.mit.edu	37	5	131728257	131728257	+	Missense_Mutation	SNP	C	C	T	rs60376624		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:131728257C>T	ENST00000245407.3	+	8	1621	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Missense_Mutation_p.S491F	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	467			S -> C (in CDSP; reduces L-carnitine uptake).		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GGAGTCAGCTCCACAGCATCC	0.552000													24	32					0	0	0.00332997	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753299	18753299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:18753299G>A	ENST00000380548.4	+	16	2349	c.2010G>A	c.(2008-2010)tgG>tgA	p.W670*		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	670	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCAGGTGGGAAATTGGCA	0.483000													4	5					0	0	0.00024832	0	0
SSTR1	6751	broad.mit.edu	37	14	38678944	38678944	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:38678944C>A	ENST00000267377.2	+	3	967	c.350C>A	c.(349-351)tCc>tAc	p.S117Y		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	117					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CTAGTCACCTCCACGTTGTTG	0.577000													37	95					1.62957e-23	3.78152e-23	0.00195071	1	0
RP11-704M14.1	0	broad.mit.edu	37	4	70080530	70080530	+	RNA	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:70080530C>T	ENST00000505646.1	+	0	694																											AATATAACTCCTCCAATCCAA	0.338000													11	23					0	0	0.000673444	0	0
BEND5	79656	broad.mit.edu	37	1	49202121	49202121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:49202121G>A	ENST00000371833.3	-	5	984	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	AGBL4_ENST00000371839.1_Intron|AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	300										large_intestine(5)|lung(2)|skin(1)	8						CTTCCCAGATGGACCTGAGAG	0.478000													16	48					0	0	0.000566183	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785429	22785429	+	RNA	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:22785429G>A	ENST00000600260.1	+	0	1518					NR_033899.1																						GCTGATGCAGGAAAAGGTGGA	0.582000													15	41					0	0	0.00244969	0	0
CCDC88C	440193	broad.mit.edu	37	14	91875053	91875053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:91875053G>A	ENST00000389857.6	-	3	306	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	CCDC88C_ENST00000389856.5_Missense_Mutation_p.R66C|CCDC88C_ENST00000554165.1_5'UTR|CCDC88C_ENST00000553403.1_Missense_Mutation_p.R74C	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	74					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTCTGAATGCGAAGGTTCACA	0.458000													8	28					0	0	0.000274275	0	0
GLI2	2736	broad.mit.edu	37	2	121747129	121747129	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:121747129C>T	ENST00000452319.1	+	14	3699	c.3639C>T	c.(3637-3639)tcC>tcT	p.S1213S	GLI2_ENST00000361492.4_Silent_p.S1213S|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1213					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GAGCCCCCTCCCAGGGCATCC	0.662000													5	10					0	0	0.000602214	0	0
SLC22A5	6584	broad.mit.edu	37	5	131728258	131728258	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:131728258C>T	ENST00000245407.3	+	8	1622	c.1401C>T	c.(1399-1401)tcC>tcT	p.S467S	SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Silent_p.S491S	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	467			S -> C (in CDSP; reduces L-carnitine uptake).		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GAGTCAGCTCCACAGCATCCC	0.547000													22	31					0	0	0.00229938	0	0
AQP8	343	broad.mit.edu	37	16	25232851	25232851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:25232851C>T	ENST00000219660.5	+	3	459	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S	AQP8_ENST00000566125.1_Missense_Mutation_p.P106S	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	112					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GATGCTCCTCCCGTACTGGGT	0.622000													28	61					0	0	0.001512	0	0
COL4A5	1287	broad.mit.edu	37	X	107821328	107821328	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:107821328C>T	ENST00000328300.6	+	12	910	c.666C>T	c.(664-666)ttC>ttT	p.F222F	COL4A5_ENST00000361603.2_Silent_p.F222F	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	222	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCTTAAATTTCCAGGGACCCA	0.363000									Alport syndrome with Diffuse Leiomyomatosis				17	3					0	0	0.000958276	0	0
FAM71A	149647	broad.mit.edu	37	1	212799772	212799772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:212799772G>A	ENST00000294829.3	+	1	1984	c.1553G>A	c.(1552-1554)gGt>gAt	p.G518D	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	518										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACCAGTTCCGGTTCCAGCAAG	0.542000													20	37					0	0	0.00121646	0	0
ERC2	26059	broad.mit.edu	37	3	56026138	56026138	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:56026138C>T	ENST00000288221.6	-	11	2457	c.2202G>A	c.(2200-2202)aaG>aaA	p.K734K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	734						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTCCACCTCCTTGAGGATCT	0.468000													73	108					0	0	0.00361006	0	0
HIP1	3092	broad.mit.edu	37	7	75174449	75174449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:75174449G>A	ENST00000336926.6	-	26	2623	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F	HIP1_ENST00000434438.2_Missense_Mutation_p.S815F	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	866	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGTCCATCGAGAGTTCTTGGC	0.463000			T	PDGFRB	CMML								41	56					0	0	0.00361006	0	0
DSP	1832	broad.mit.edu	37	6	7584254	7584254	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:7584254C>T	ENST00000379802.3	+	24	7100	c.6759C>T	c.(6757-6759)ttC>ttT	p.F2253F	DSP_ENST00000418664.2_Silent_p.F1654F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2253	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTAAGGACTTCCTCCAGGGTT	0.443000													15	34					0	0	0.00244969	0	0
PTPRD	5789	broad.mit.edu	37	9	8492971	8492971	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:8492971G>A	ENST00000381196.4	-	24	2901	c.2358C>T	c.(2356-2358)atC>atT	p.I786I	PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Silent_p.I786I|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000360074.4_Silent_p.I773I|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000356435.5_Silent_p.I786I|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000358503.5_Silent_p.I764I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	786	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCCCAGAAATGATCATGTCCT	0.483000										TSP Lung(15;0.13)			31	27					0	0	0.00375469	0	0
CAMK4	814	broad.mit.edu	37	5	110819752	110819752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:110819752C>T	ENST00000282356.4	+	11	1408	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.S337L	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	337	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GTGGCCTCTTCGCGCCTGGGA	0.557000													20	40					0	0	0.00152264	0	0
DNAJC10	54431	broad.mit.edu	37	2	183582833	183582833	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:183582833A>T	ENST00000264065.6	+	3	435	c.20A>T	c.(19-21)aAa>aTa	p.K7I	DNAJC10_ENST00000537515.1_Missense_Mutation_p.K7I|DNAJC10_ENST00000469118.1_Intron	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	7					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGTTAAATAAAGATGACTAT	0.343000													8	30					0	0	0.000978159	0	0
GUCY2C	2984	broad.mit.edu	37	12	14778782	14778782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:14778782G>A	ENST00000261170.3	-	21	2453	c.2317C>T	c.(2317-2319)Cga>Tga	p.R773*		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	773					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.R773R(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCCAGGTTTCGAGAATATAGC	0.408000													28	56					0	0	0.00178596	0	0
BPIFB4	149954	broad.mit.edu	37	20	31685474	31685474	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:31685474C>T	ENST00000375483.3	+	11	1450	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	484						cytoplasm|extracellular region	lipid binding										GATCCAGGTGCTGAACCCACC	0.587000													35	55					0	0	0.00111076	0	0
KCNH5	27133	broad.mit.edu	37	14	63416994	63416994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:63416994C>T	ENST00000322893.7	-	7	1494	c.1226G>A	c.(1225-1227)tGg>tAg	p.W409*	KCNH5_ENST00000394964.2_Nonsense_Mutation_p.W351*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.W351*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.W409*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	409					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCCTCCTTCCCATATCCCAGC	0.458000													21	47					0	0	0.00278032	0	0
CCDC39	339829	broad.mit.edu	37	3	180377491	180377491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:180377491C>T	ENST00000273654.4	-	11	1454	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	CCDC39_ENST00000442201.2_Missense_Mutation_p.E195K			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	195					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTGTAAGTTCGTTGTCAAGT	0.308000													12	76					0	0	0.00244969	0	0
RNF125	54941	broad.mit.edu	37	18	29617132	29617132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:29617132C>T	ENST00000217740.3	+	2	710	c.218C>T	c.(217-219)cCt>cTt	p.P73L	RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	73					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGGACCTGTCCTTATTGCCGG	0.433000													45	119					0	0	0.00361006	0	0
THSD7B	80731	broad.mit.edu	37	2	138033582	138033582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:138033582G>A	ENST00000409968.1	+	12	2664	c.2486G>A	c.(2485-2487)gGg>gAg	p.G829E	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.G829E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G798E					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTGGAAAGGGGTTACAAACA	0.388000													11	25					0	0	0.000978159	0	0
PRSS38	339501	broad.mit.edu	37	1	228005126	228005126	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:228005126G>A	ENST00000366757.3	+	3	552	c.528G>A	c.(526-528)gtG>gtA	p.V176V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	176	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTCCAGAAGTGAACCTTACCA	0.552000													35	26					0	0	0.00375469	0	0
TECTA	7007	broad.mit.edu	37	11	121037453	121037453	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:121037453C>T	ENST00000392793.1	+	18	5821	c.5550C>T	c.(5548-5550)atC>atT	p.I1850I	TECTA_ENST00000264037.2_Silent_p.I1850I			O75443	TECTA_HUMAN	tectorin alpha	1850	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTTTCAGATCAACAACACCA	0.507000													22	24					0	0	0.00188189	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42797717	42797717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:42797717C>T	ENST00000314073.5	+	6	1822	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A549V					GLTSCR1-like																		GCCAGCACTGCCCATCCTAGT	0.547000													9	31					0	0	0.000274275	0	0
DNAH1	25981	broad.mit.edu	37	3	52426493	52426493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:52426493C>T	ENST00000420323.2	+	64	10327	c.10066C>T	c.(10066-10068)Cag>Tag	p.Q3356*		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3421	AAA 5 (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)		CCTAGAGGACCAGCTACTGGG	0.612000													9	33					0	0	0.000442599	0	0
TNIP1	10318	broad.mit.edu	37	5	150436501	150436501	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:150436501G>A	ENST00000389378.2	-	6	1041	c.453C>T	c.(451-453)ccC>ccT	p.P151P	TNIP1_ENST00000522226.1_Silent_p.P151P|TNIP1_ENST00000523200.1_Silent_p.P151P|TNIP1_ENST00000315050.7_Silent_p.P151P|TNIP1_ENST00000523338.1_Silent_p.P151P|TNIP1_ENST00000520931.1_Silent_p.P98P|TNIP1_ENST00000521591.1_Silent_p.P151P|TNIP1_ENST00000524280.1_Silent_p.P151P|TNIP1_ENST00000518977.1_Silent_p.P151P	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	151	Interacts with Nef.		P -> A (in dbSNP:rs2233290).		defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTCCTCACGGGGCAGGGGGC	0.667000													10	16					0	0	0.000442599	0	0
FBXO46	23403	broad.mit.edu	37	19	46215197	46215197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:46215197C>T	ENST00000317683.3	-	2	1690	c.1557G>A	c.(1555-1557)tgG>tgA	p.W519*		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	519	F-box.						protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGTCTCGGCTCCAGCGCGAGT	0.667000													6	7					0	0	0.00116845	0	0
SHISA3	152573	broad.mit.edu	37	4	42403086	42403086	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:42403086T>G	ENST00000319234.4	+	2	553	c.335T>G	c.(334-336)cTg>cGg	p.L112R		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	112					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TTCATCATCCTGGGCTCTGTA	0.502000													57	90					0	0	0.00361006	0	0
OR2F1	26211	broad.mit.edu	37	7	143657942	143657942	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:143657942G>A	ENST00000392899.1	+	1	916	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ACAGCCTAAGGAATAAAGAGG	0.443000													15	29					0	0	0.00316338	0	0
MUC16	94025	broad.mit.edu	37	19	9049196	9049196	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:9049196G>T	ENST00000397910.4	-	5	32638	c.32435C>A	c.(32434-32436)aCa>aAa	p.T10812K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10814	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						AGGGGAGTTTGTCAGAGCTCG	0.488000													41	103					8.01111e-26	1.86379e-25	0.0025221	1	0
SATB1	6304	broad.mit.edu	37	3	18390941	18390941	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:18390941G>A	ENST00000338745.6	-	11	3747	c.2013C>T	c.(2011-2013)gaC>gaT	p.D671D	SATB1_ENST00000454909.2_Silent_p.D671D|SATB1_ENST00000417717.2_Silent_p.D703D|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	671					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGGCCTCTTCGTCAGGGTACA	0.517000													33	80					0	0	0.00283554	0	0
ACTC1	70	broad.mit.edu	37	15	35083353	35083353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:35083353C>T	ENST00000290378.4	-	6	1607	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	318					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCAGTGATTTCCTTCTGCATA	0.453000													68	132					0	0	0.00361006	0	0
AKT2	208	broad.mit.edu	37	19	40740978	40740978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:40740978G>A	ENST00000392038.2	-	13	1638	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	AKT2_ENST00000311278.6_Missense_Mutation_p.S404F|AKT2_ENST00000424901.1_Missense_Mutation_p.S447F|AKT2_ENST00000579047.1_Missense_Mutation_p.S385F	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	447	AGC-kinase C-terminal.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GATTGTGATGGACTGGGCGGT	0.602000			A		"""ovarian, pancreatic """								56	127					0	0	0.00361006	0	0
GRM7	2917	broad.mit.edu	37	3	7340399	7340399	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:7340399A>T	ENST00000486284.1	+	3	1039	c.765A>T	c.(763-765)agA>agT	p.R255S	GRM7_ENST00000403881.1_Missense_Mutation_p.R255S|GRM7_ENST00000402647.2_Missense_Mutation_p.R255S|GRM7_ENST00000389336.4_Missense_Mutation_p.R255S|GRM7_ENST00000357716.4_Missense_Mutation_p.R255S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	255					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGTCCGTGAGAATCCCCCAGG	0.473000													18	38					0	0	0.000958276	0	0
CCNA1	8900	broad.mit.edu	37	13	37014267	37014267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:37014267C>T	ENST00000418263.1	+	6	1392	c.1042C>T	c.(1042-1044)Ctt>Ttt	p.L348F	CCNA1_ENST00000449823.1_Missense_Mutation_p.L305F|CCNA1_ENST00000255465.4_Missense_Mutation_p.L349F|CCNA1_ENST00000440264.1_Missense_Mutation_p.L305F	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	349					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CCAGTTTCTCCTTCAGTACTT	0.463000													49	95					0	0	0.00361006	0	0
DONSON	29980	broad.mit.edu	37	21	34958469	34958469	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:34958469A>C	ENST00000453626.1	-	3	425	c.421T>G	c.(421-423)Tcc>Gcc	p.S141A	AP000304.12_ENST00000429238.1_Missense_Mutation_p.L102R|DONSON_ENST00000303113.6_Missense_Mutation_p.S141A|DONSON_ENST00000432378.1_Missense_Mutation_p.S141A|DONSON_ENST00000303071.5_Missense_Mutation_p.S141A			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	141					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TCAGGCTCGGAGAATGATACA	0.388000											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	15					0	0	0.000673444	0	0
FBXO46	23403	broad.mit.edu	37	19	46215198	46215198	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:46215198C>T	ENST00000317683.3	-	2	1689	c.1556G>A	c.(1555-1557)tGg>tAg	p.W519*		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	519	F-box.						protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GTCTCGGCTCCAGCGCGAGTC	0.662000													6	7					0	0	0.00116845	0	0
TRIM35	23087	broad.mit.edu	37	8	27151620	27151620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:27151620C>T	ENST00000305364.4	-	3	822	c.739G>A	c.(739-741)Gag>Aag	p.E247K	TRIM35_ENST00000521253.1_Missense_Mutation_p.E215K	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	247					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACGTCGTCCTCCTTCATCTCC	0.567000													14	44					0	0	0.00316338	0	0
MKL2	57496	broad.mit.edu	37	16	14340567	14340567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:14340567G>A	ENST00000571589.1	+	12	1622	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	MKL2_ENST00000318282.5_Missense_Mutation_p.E484K|MKL2_ENST00000341243.5_Missense_Mutation_p.E473K|MKL2_ENST00000574045.1_Missense_Mutation_p.E484K	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	473					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	p.E484Q(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTCAAGGCAGAATTGCCACC	0.507000													18	61					0	0	0.000958276	0	0
SAMD7	344658	broad.mit.edu	37	3	169644379	169644379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:169644379G>A	ENST00000428432.2	+	6	718	c.329G>A	c.(328-330)aGa>aAa	p.R110K	SAMD7_ENST00000335556.3_Missense_Mutation_p.R110K	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	110										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAGCAAAGGAGAATGGAAAAA	0.423000													23	25					0	0	0.00106085	0	0
CLASP2	23122	broad.mit.edu	37	3	33673818	33673818	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:33673818A>G	ENST00000399362.4	-	9	1261	c.908T>C	c.(907-909)tTt>tCt	p.F303S	CLASP2_ENST00000461133.3_Missense_Mutation_p.F70S|CLASP2_ENST00000359576.5_Missense_Mutation_p.F303S|CLASP2_ENST00000480013.1_Missense_Mutation_p.F70S|CLASP2_ENST00000313350.6_Missense_Mutation_p.F76S|CLASP2_ENST00000333778.6_Missense_Mutation_p.F80S|CLASP2_ENST00000487200.1_Missense_Mutation_p.F76S|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000468888.2_Missense_Mutation_p.F304S|CLASP2_ENST00000539981.1_Intron|CLASP2_ENST00000307312.7_5'UTR	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	304										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGCTTTTATAAAATCATCTTC	0.378000													6	9					0	0	0.00307968	0	0
MERTK	10461	broad.mit.edu	37	2	112785928	112785928	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:112785928G>A	ENST00000295408.4	+	19	2744	c.2486_splice	c.e19-1	p.L829_splice	MERTK_ENST00000409780.1_Splice_Site_p.L653_splice|MERTK_ENST00000421804.2_Splice_Site_p.L829_splice			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	829	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TAACTTTCAGGTATGAAATAA	0.408000													18	30					0	0	0.00074312	0	0
KRT84	3890	broad.mit.edu	37	12	52779212	52779212	+	Missense_Mutation	SNP	C	C	T	rs143172691		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:52779212C>T	ENST00000257951.3	-	1	224	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	53	Head.					keratin filament	structural constituent of epidermis	p.R53Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GATGACACTCCGACTACCAAA	0.582000													15	17					0	0	0.00316338	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73064052	73064052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:73064052C>T	ENST00000263674.3	+	3	3798	c.3448C>T	c.(3448-3450)Cag>Tag	p.Q1150*	ARHGEF17_ENST00000536170.1_3'UTR	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1150	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCTGCTCGTCCAGTCGGTGAG	0.662000													14	23					0	0	0.00244969	0	0
CHRM3	1131	broad.mit.edu	37	1	240071792	240071792	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:240071792G>A	ENST00000255380.4	+	5	1820	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	347					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCTCCCTGGAGAACTCCGCCT	0.572000													6	11					0	0	0.00116845	0	0
GRIA1	2890	broad.mit.edu	37	5	153054204	153054204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:153054204G>A	ENST00000285900.5	+	6	1187	c.844G>A	c.(844-846)Gac>Aac	p.D282N	GRIA1_ENST00000518783.1_Missense_Mutation_p.D292N|GRIA1_ENST00000521843.2_Missense_Mutation_p.D213N|GRIA1_ENST00000518142.1_Missense_Mutation_p.D202N|GRIA1_ENST00000448073.4_Missense_Mutation_p.D292N|GRIA1_ENST00000340592.5_Missense_Mutation_p.D282N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	282					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CACACGGGTGGACTGGAAGAG	0.537000													17	33					0	0	0.00400662	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370342	35370342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:35370342C>T	ENST00000373347.1	-	3	911	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	DLGAP3_ENST00000235180.4_Missense_Mutation_p.G215S			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	215					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCTCCAGAGCCCGGGCCGGGG	0.652000													16	19					0	0	0.00316338	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021150	142021150	+	RNA	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:142021150C>T	ENST00000390381.3	+	0	439																											GAGCTGCTCCCCTATCTCTGG	0.498000													6	15					0	0	0.00198382	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017585	161017585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:161017585G>A	ENST00000368013.3	-	12	3546	c.3226C>T	c.(3226-3228)Cct>Tct	p.P1076S	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P865S|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.P899S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1076					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGGGGGTCAGGAACCTGGGGT	0.582000													30	52					0	0	0.00127121	0	0
LIFR	3977	broad.mit.edu	37	5	38482161	38482161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:38482161G>A	ENST00000263409.4	-	20	2992	c.2830C>T	c.(2830-2832)Cat>Tat	p.H944Y	LIFR_ENST00000453190.2_Missense_Mutation_p.H944Y	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	944					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACAACCACATGGTTTTCAGGC	0.448000			T	PLAG1	salivary adenoma								31	85					0	0	0.00375469	0	0
ITPKB	3707	broad.mit.edu	37	1	226827257	226827257	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:226827257C>A	ENST00000429204.1	-	6	2881		c.e6+1		ITPKB_ENST00000272117.3_Splice_Site	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B								ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCCAGACTCACCAGGATGTTA	0.582000													12	61					1.05317e-09	2.41618e-09	0.00244969	1	0
SLCO1B3	28234	broad.mit.edu	37	12	21054378	21054378	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:21054378G>A	ENST00000381545.3	+	15	2061	c.1842G>A	c.(1840-1842)agG>agA	p.R614R	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.R614R|SLCO1B3_ENST00000553473.1_Silent_p.R614R|SLCO1B3_ENST00000261196.2_Silent_p.R614R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	614					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGGCTTGTAGGATATATAATT	0.348000													32	57					0	0	0.00283554	0	0
TMEM104	54868	broad.mit.edu	37	17	72815909	72815909	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:72815909C>T	ENST00000335464.5	+	9	819	c.657C>T	c.(655-657)ctC>ctT	p.L219L	TMEM104_ENST00000417024.2_Silent_p.L232L|TMEM104_ENST00000582330.1_Silent_p.L219L|TMEM104_ENST00000582773.1_Silent_p.L219L	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	219						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CTCTCCTCCTCGGACCGTTCA	0.567000													35	13					0	0	0.00111076	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412865	105412865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:105412865C>T	ENST00000333244.5	-	7	9042	c.8923G>A	c.(8923-8925)Gac>Aac	p.D2975N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2975						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AACTTGCTGTCTTTGGCAGTC	0.607000													83	170					0	0	0.00361006	0	0
ABCC8	6833	broad.mit.edu	37	11	17419306	17419306	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:17419306C>T	ENST00000302539.4	-	31	3920	c.3795G>A	c.(3793-3795)gtG>gtA	p.V1265V	ABCC8_ENST00000389817.3_Silent_p.V1264V	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1264	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGATGGAGGTCACCGCTGCGA	0.637000													58	115					0	0	0.00361006	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883992	228883992	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:228883992C>T	ENST00000392056.3	-	7	1624	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	SPHKAP_ENST00000344657.5_Silent_p.S526S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	526						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGGAAAGTTCGAGACCACTT	0.502000													12	21					0	0	0.000978159	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708565	108708565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:108708565G>A	ENST00000218006.2	-	3	1129	c.838C>T	c.(838-840)Cct>Tct	p.P280S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	280					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCATCATAAGGAACAAAGACG	0.473000													43	21					0	0	0.00321405	0	0
XRCC6BP1	91419	broad.mit.edu	37	12	58335605	58335605	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:58335605T>C	ENST00000300145.3	+	1	246	c.121T>C	c.(121-123)Ttc>Ctc	p.F41L		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	41					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						CCAGCAAGGGTTCTTCTCCAG	0.637000													8	16					0	0	0.000274275	0	0
ZNF556	80032	broad.mit.edu	37	19	2876127	2876127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:2876127C>T	ENST00000586426.1	+	3	254	c.167C>T	c.(166-168)tCt>tTt	p.S56F	ZNF556_ENST00000307635.2_Missense_Mutation_p.S56F			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCTATTTCTCAGCAGGAT	0.368000													67	112					0	0	0.00361006	0	0
LRRC43	254050	broad.mit.edu	37	12	122687914	122687914	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:122687914C>T	ENST00000339777.4	+	12	1924	c.1896C>T	c.(1894-1896)ccC>ccT	p.P632P	LRRC43_ENST00000425921.1_Silent_p.P447P	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	632										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		ACCCTGAGCCCCTGACCGTAG	0.597000													43	51					0	0	0.00361006	0	0
POGK	57645	broad.mit.edu	37	1	166818940	166818940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:166818940G>A	ENST00000367875.1	+	5	1484	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	POGK_ENST00000536514.1_Missense_Mutation_p.R290Q|POGK_ENST00000367876.4_Missense_Mutation_p.R375Q|POGK_ENST00000537173.1_Missense_Mutation_p.R257Q			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	375	DDE.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GTGCCATCACGGGTAACTGTT	0.527000													24	28					0	0	0.00395357	0	0
PLCE1	51196	broad.mit.edu	37	10	95791248	95791248	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:95791248T>C	ENST00000260766.3	+	2	1079	c.445T>C	c.(445-447)Ttc>Ctc	p.F149L	PLCE1_ENST00000371380.2_Missense_Mutation_p.F149L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	149					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAGAAAGGTGTTCCCTGGAAT	0.443000													20	48					0	0	0.00152264	0	0
ACOXL	55289	broad.mit.edu	37	2	111542337	111542337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:111542337G>A	ENST00000389811.4	+	3	328	c.104G>A	c.(103-105)cGa>cAa	p.R35Q	ACOXL_ENST00000340561.4_Missense_Mutation_p.R35Q|ACOXL_ENST00000439055.1_Missense_Mutation_p.R35Q			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	35					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TTTGTCAGCCGAAGCCTTGTC	0.453000													20	32					0	0	0.00395357	0	0
CDCA2	157313	broad.mit.edu	37	8	25341639	25341639	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:25341639C>T	ENST00000330560.3	+	10	1755	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.F411F	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	426					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AAAAAGACTTCAGTGGTCTCA	0.433000													34	56					0	0	0.0024448	0	0
FAM115C	285966	broad.mit.edu	37	7	143417119	143417119	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:143417119C>T	ENST00000441159.2	+	3	1033	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	FAM115C_ENST00000425618.2_Silent_p.L42L|FAM115C_ENST00000411935.1_Silent_p.L159L|FAM115C_ENST00000411497.2_Silent_p.L42L|FAM115C_ENST00000357344.4_Silent_p.L323L|FAM115C_ENST00000444908.2_Silent_p.L323L|FAM115C_ENST00000409703.3_Silent_p.L159L			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	323										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GCAATGCAGCCTGGAGCCCCA	0.572000													11	52					0	0	0.00400662	0	0
DDX60	55601	broad.mit.edu	37	4	169227533	169227533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:169227533C>T	ENST00000393743.3	-	5	894	c.603G>A	c.(601-603)tgG>tgA	p.W201*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	201							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GAATTACCTTCCAGGAAAAAA	0.373000													9	15					0	0	0.000442599	0	0
LOC728715	728715	broad.mit.edu	37	12	9716769	9716769	+	RNA	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:9716769G>A	ENST00000520314.1	+	0	3964																											CCTGCTCTACGAAACGCACTC	0.388000													4	7					0	0	0.00024832	0	0
C10orf71	118461	broad.mit.edu	37	10	50530672	50530672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:50530672G>A	ENST00000374144.3	+	3	370	c.82G>A	c.(82-84)Gag>Aag	p.E28K	C10orf71_ENST00000323868.4_Missense_Mutation_p.E28K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	28										endometrium(1)	1						TGCAGACAGGGAGGTGAGCAG	0.552000													6	9					0	0	0.00198382	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140855819	140855819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:140855819G>A	ENST00000308177.3	+	1	240	c.136G>A	c.(136-138)Gct>Act	p.A46T	PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGGTTTCGCTGTGGGCAA	0.562000													7	87					0	0	0.00307968	0	0
DENND2A	27147	broad.mit.edu	37	7	140301463	140301463	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:140301463C>T	ENST00000275884.6	-	2	1152	c.735G>A	c.(733-735)cgG>cgA	p.R245R	DENND2A_ENST00000492720.1_Silent_p.R245R|DENND2A_ENST00000537639.1_Silent_p.R245R|DENND2A_ENST00000496613.1_Silent_p.R245R			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	245										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCTCAAGGCTCCGGTCCCAGG	0.602000													55	92					0	0	0.00361006	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659497	63659497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:63659497G>A	ENST00000523211.1	+	4	412	c.280G>A	c.(280-282)Gat>Aat	p.D94N	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.D94N	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	94						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTAGGACACCGATCTAATGAC	0.448000													10	30					0	0	0.000978159	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710915	140710915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:140710915C>T	ENST00000517417.1	+	1	664	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R222C	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)			TGAACCAGTCCGTTCAGGGAC	0.493000													23	23					0	0	0.00332997	0	0
MED13	9969	broad.mit.edu	37	17	60030396	60030396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:60030396G>A	ENST00000397786.2	-	27	6123	c.6047C>T	c.(6046-6048)cCt>cTt	p.P2016L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2016					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGAGAAGCAGGAAGGATATT	0.418000													45	21					0	0	0.00361006	0	0
CFAP54	144535	broad.mit.edu	37	12	97078897	97078897	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:97078897C>T	ENST00000524981.3	+	9	1248	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L				Q6ZTY8	CL063_HUMAN		390										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GCCCCTCACTCACCAATGTCA	0.468000													19	27					0	0	0.000958276	0	0
MAGI1	9223	broad.mit.edu	37	3	65350400	65350400	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:65350400C>A	ENST00000330909.8	-	21	3374	c.3374_splice	c.e21-1	p.R1125_splice	MAGI1_ENST00000483466.1_Splice_Site_p.R1126_splice|MAGI1_ENST00000402939.2_Splice_Site_p.R1097_splice|MAGI1_ENST00000497477.2_Splice_Site_p.R1030_splice	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1126	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGGTGGTATTCCTGCCAAAGT	0.393000													17	32					1.67942e-08	3.84804e-08	0.00074312	1	0
DYSF	8291	broad.mit.edu	37	2	71791275	71791275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:71791275C>T	ENST00000258104.3	+	24	2720	c.2443C>T	c.(2443-2445)Ctc>Ttc	p.L815F	DYSF_ENST00000429174.2_Missense_Mutation_p.L815F|DYSF_ENST00000409744.1_Missense_Mutation_p.L802F|DYSF_ENST00000413539.2_Missense_Mutation_p.L846F|DYSF_ENST00000410041.1_Missense_Mutation_p.L833F|DYSF_ENST00000409366.1_Missense_Mutation_p.L816F|DYSF_ENST00000410020.3_Missense_Mutation_p.L833F|DYSF_ENST00000409762.1_Missense_Mutation_p.L832F|DYSF_ENST00000409651.1_Missense_Mutation_p.L847F|DYSF_ENST00000394120.2_Missense_Mutation_p.L816F|DYSF_ENST00000409582.3_Missense_Mutation_p.L832F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	815						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCACCAAGTCCTCTTCTCCCG	0.547000													20	53					0	0	0.00152264	0	0
MICAL3	57553	broad.mit.edu	37	22	18304832	18304832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:18304832C>T	ENST00000441493.2	-	24	3764	c.3412G>A	c.(3412-3414)Gag>Aag	p.E1138K		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1138	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCAGCTTCTCCTCATCTTCC	0.577000													23	79					0	0	0.000878237	0	0
CSTA	1475	broad.mit.edu	37	3	122056407	122056407	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:122056407T>C	ENST00000479204.1	+	2	111	c.80T>C	c.(79-81)cTt>cCt	p.L27P	CSTA_ENST00000264474.3_Missense_Mutation_p.L27P			P01040	CYTA_HUMAN	cystatin A (stefin A)	27					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		AAACCACAGCTTGAAGAAAAA	0.358000													29	74					0	0	0.000878237	0	0
STAB2	55576	broad.mit.edu	37	12	104056647	104056647	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:104056647G>A	ENST00000388887.2	+	18	2097	c.1893G>A	c.(1891-1893)gtG>gtA	p.V631V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	631	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAAATGATGTGGCAATGGAAG	0.453000													31	39					0	0	0.001512	0	0
ALCAM	214	broad.mit.edu	37	3	105271424	105271424	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:105271424G>A	ENST00000306107.5	+	14	2159	c.1659G>A	c.(1657-1659)aaG>aaA	p.K553K	ALCAM_ENST00000472644.2_Silent_p.K540K|ALCAM_ENST00000389927.4_Silent_p.K275K|ALCAM_ENST00000486979.2_Silent_p.K502K	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	553					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ACATGAAGAAGTCAAAGTGAG	0.418000													20	44					0	0	0.00121646	0	0
DISP2	85455	broad.mit.edu	37	15	40661934	40661934	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:40661934C>T	ENST00000267889.3	+	8	3708	c.3621C>T	c.(3619-3621)ccC>ccT	p.P1207P		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1207					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GTTCCCGGCCCCCACCAGCCC	0.647000													24	37					0	0	0.00229938	0	0
ZNF662	389114	broad.mit.edu	37	3	42955929	42955929	+	Missense_Mutation	SNP	G	G	A	rs147863526		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:42955929G>A	ENST00000541208.1	+	5	733	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	ZNF662_ENST00000440367.2_Missense_Mutation_p.E122K|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.E148K|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TGGATCCCAGGAATTATGGTT	0.438000													16	21					0	0	0.000566183	0	0
GPR149	344758	broad.mit.edu	37	3	154138913	154138913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:154138913C>T	ENST00000389740.2	-	3	1637	c.1538G>A	c.(1537-1539)aGa>aAa	p.R513K		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	513						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGACAGTCTTCTTTCTGGCCC	0.413000													48	54					0	0	0.00285205	0	0
TGM1	7051	broad.mit.edu	37	14	24729713	24729713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:24729713G>A	ENST00000206765.6	-	4	823	c.700C>T	c.(700-702)Cag>Tag	p.Q234*	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	234					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AAGGGCAACTGGAACTCCCCA	0.577000													11	42					0	0	0.00136819	0	0
MAG	4099	broad.mit.edu	37	19	35793435	35793435	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:35793435A>G	ENST00000361922.4	+	7	1205	c.1055A>G	c.(1054-1056)aAc>aGc	p.N352S	MAG_ENST00000537831.2_Missense_Mutation_p.N327S|MAG_ENST00000392213.3_Missense_Mutation_p.N352S	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	352	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACACAGAGCAACCCGGACCCT	0.602000													16	31					0	0	0.00316338	0	0
HEYL	26508	broad.mit.edu	37	1	40092670	40092670	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:40092670G>C	ENST00000372852.3	-	5	815	c.496C>G	c.(496-498)Ccc>Gcc	p.P166A	HEYL_ENST00000535435.1_Missense_Mutation_p.P138A	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	166	Pro-rich.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGCCAGTGGGCGTGGGCGAA	0.652000													14	41					0	0	0.00074312	0	0
PCCA	5095	broad.mit.edu	37	13	100925546	100925546	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:100925546C>T	ENST00000376285.1	+	12	1049	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	PCCA_ENST00000376279.3_Silent_p.F337F|PCCA_ENST00000376286.4_Silent_p.F311F	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	337	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CCGTGGAGTTCCTTGTGGACT	0.423000													4	18					0	0	0.00024832	0	0
PKP1	5317	broad.mit.edu	37	1	201252992	201252992	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:201252992C>T	ENST00000263946.3	+	1	413	c.162C>T	c.(160-162)tcC>tcT	p.S54S	PKP1_ENST00000367324.3_Silent_p.S54S|PKP1_ENST00000352845.3_Silent_p.S54S	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	54					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GGCAGAAGTCCAAGTCTTCCC	0.627000													12	57					0	0	0.00136819	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963741	148963741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:148963741G>A	ENST00000434415.1	+	2	503	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	114					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GAGGCGGCTGGAGAATGTGGA	0.652000													21	66					0	0	0.00395357	0	0
EFHB	151651	broad.mit.edu	37	3	19947122	19947122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:19947122C>T	ENST00000295824.9	-	6	1569	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.E340K	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	470					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATTTGTAGTTCATGGAGCCAA	0.348000													39	79					0	0	0.00222228	0	0
ZNF816	125893	broad.mit.edu	37	19	53454451	53454451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:53454451G>A	ENST00000357666.4	-	5	877	c.577C>T	c.(577-579)Caa>Taa	p.Q193*	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Nonsense_Mutation_p.Q193*	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAATTCTTTGGGATTCTGAA	0.378000													26	40					0	0	0.00332997	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189157	50189157	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:50189157C>G	ENST00000335999.6	-	8	2687	c.2486G>C	c.(2485-2487)cGa>cCa	p.R829P		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	825	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AGCCCCAGGTCGAGGCACCAC	0.627000													21	52					0	0	0.00152264	0	0
MS4A1	931	broad.mit.edu	37	11	60233401	60233401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:60233401G>A	ENST00000534668.1	+	5	633	c.344G>A	c.(343-345)gGa>gAa	p.G115E	MS4A1_ENST00000345732.4_Missense_Mutation_p.G115E|MS4A1_ENST00000532073.1_Missense_Mutation_p.G115E|MS4A1_ENST00000389939.2_Missense_Mutation_p.G115E|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	115					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CAGGTCAAAGGAAAAATGATA	0.338000													7	29					0	0	0.00307968	0	0
TIE1	7075	broad.mit.edu	37	1	43784918	43784918	+	Missense_Mutation	SNP	G	G	A	rs45475401	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:43784918G>A	ENST00000372476.3	+	18	3014	c.2935G>A	c.(2935-2937)Gac>Aac	p.D979N	TIE1_ENST00000433781.2_Missense_Mutation_p.D624N|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	979	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATCCACAGGGACCTGGCTGC	0.567000													13	35					0	0	0.00185496	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891621	30891621	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:30891621C>T	ENST00000392772.2	-	4	298	c.21G>A	c.(19-21)gaG>gaA	p.E7E	SEC14L4_ENST00000540456.1_Silent_p.E46E|SEC14L4_ENST00000255858.7_Silent_p.E61E|SEC14L4_ENST00000381982.3_Silent_p.E61E			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	61						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GCTTCCGGAACTCCATGTGCT	0.602000													33	70					0	0	0.00283554	0	0
ZNF341	84905	broad.mit.edu	37	20	32378973	32378973	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:32378973A>T	ENST00000375200.1	+	15	2580	c.2215A>T	c.(2215-2217)Aag>Tag	p.K739*	RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Nonsense_Mutation_p.K732*|RP4-553F4.6_ENST00000443171.1_RNA			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCAAAAGGACAAGGACCTGCA	0.662000													7	18					0	0	0.000442599	0	0
COX10	1352	broad.mit.edu	37	17	14110519	14110519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:14110519C>T	ENST00000261643.3	+	7	1398	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	COX10_ENST00000536205.1_Missense_Mutation_p.P249S|COX10_ENST00000537334.1_Missense_Mutation_p.P224S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	441					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CGCAGGGCCCCCTCCCAGCTG	0.647000													5	11					0	0	0.00116845	0	0
FCGR3B	2215	broad.mit.edu	37	1	161594380	161594380	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:161594380G>A	ENST00000294800.3	-	5	900	c.627C>T	c.(625-627)gtC>gtT	p.V209V	FCGR3B_ENST00000367964.2_Silent_p.V209V|FCGR2B_ENST00000367960.5_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Silent_p.V245V|FCGR2B_ENST00000403078.3_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	209					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCAGAAAGAGACTTGGTACC	0.433000													18	35					0	0	0.00188189	0	0
TATDN1	83940	broad.mit.edu	37	8	125520732	125520732	+	Missense_Mutation	SNP	G	G	A	rs148032742	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:125520732G>A	ENST00000276692.6	-	8	536	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	TATDN1_ENST00000517678.1_Missense_Mutation_p.R113W|TATDN1_ENST00000605953.1_Missense_Mutation_p.R167W|TATDN1_ENST00000519548.1_Missense_Mutation_p.R120W|TATDN1_ENST00000521546.1_5'UTR	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	167						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCTACACACCGATCTCTATTT	0.318000													16	20					0	0	0.00152264	0	0
GRIN2B	2904	broad.mit.edu	37	12	13720055	13720055	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:13720055G>A	ENST00000279593.3	-	12	2711	c.2502C>T	c.(2500-2502)atC>atT	p.I834I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	834					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGATGAAGGTGATGAGGCTGA	0.512000													22	48					0	0	0.00332997	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533697	31533697	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:31533697C>T	ENST00000215885.3	-	4	1317	c.1066_splice	c.e4+1	p.Q355_splice		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	355					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGAGCTCACCCTGAGGTTTTA	0.592000													37	85					0	0	0.00111076	0	0
C1orf65	164127	broad.mit.edu	37	1	223568461	223568461	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:223568461G>A	ENST00000366875.3	+	1	1747	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	548										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCTGAAACTGAAAGCCGAGA	0.532000													22	51					0	0	0.00188189	0	0
DSC2	1824	broad.mit.edu	37	18	28669437	28669437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:28669437G>A	ENST00000280904.6	-	5	1038	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	DSC2_ENST00000251081.6_Missense_Mutation_p.R199C	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	199	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCTACAGGACGAGTACAATAC	0.378000													23	31					0	0	0.00332997	0	0
YIPF7	285525	broad.mit.edu	37	4	44638057	44638057	+	Silent	SNP	T	T	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:44638057T>A	ENST00000332990.5	-	3	250	c.234A>T	c.(232-234)tcA>tcT	p.S78S		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	78						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TGAGCATCTCTGATGGAACAA	0.393000													12	34					0	0	0.00244969	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105915153	105915153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:105915153G>A	ENST00000393359.2	-	3	1124	c.698C>T	c.(697-699)gCc>gTc	p.A233V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A233V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	233	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGCGACTGTGGCAAACATGCC	0.532000													7	16					0	0	0.00198382	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242405	87242405	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:87242405G>A	ENST00000297524.3	-	1	205	c.102C>T	c.(100-102)tcC>tcT	p.S34S	SLC7A13_ENST00000419776.2_Silent_p.S34S|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	34						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CACCTTTGGGGGACACAAAAA	0.468000													32	42					0	0	0.00178596	0	0
HRH2	3274	broad.mit.edu	37	5	175111211	175111211	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:175111211C>T	ENST00000231683.2	+	1	2748	c.975C>T	c.(973-975)tcC>tcT	p.S325S	HRH2_ENST00000377291.2_Silent_p.S325S	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	325					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CTCAGCTGTCCAGGACCCAAA	0.597000													14	42					0	0	0.00185496	0	0
GABRB3	2562	broad.mit.edu	37	15	26828491	26828491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:26828491C>T	ENST00000541819.2	-	6	802	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	GABRB3_ENST00000400188.3_Missense_Mutation_p.E107K|GABRB3_ENST00000311550.5_Missense_Mutation_p.E178K|GABRB3_ENST00000299267.4_Missense_Mutation_p.E178K|GABRB3_ENST00000545868.1_Missense_Mutation_p.E93K			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	178					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTTTCAATTTCCAGAGTGCAG	0.428000													22	46					0	0	0.00229938	0	0
SLC38A3	10991	broad.mit.edu	37	3	50256311	50256311	+	RNA	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:50256311G>A	ENST00000420502.1	+	0	1390							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	TATTGCCGTTGGCCTGCTCAC	0.587000													7	31					0	0	0.00307968	0	0
CPSF3	51692	broad.mit.edu	37	2	9595848	9595848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:9595848C>T	ENST00000460593.1	+	13	2592	c.1454C>T	c.(1453-1455)cCc>cTc	p.P485L	CPSF3_ENST00000238112.3_Missense_Mutation_p.P522L			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	522					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TATACTGGTCCCTTTAATTTG	0.383000													16	43					0	0	0.000958276	0	0
TTN	7273	broad.mit.edu	37	2	179649008	179649008	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179649008A>C	ENST00000589042.1	-	16	2788	c.2564T>G	c.(2563-2565)aTc>aGc	p.I855S	TTN_ENST00000460472.2_Missense_Mutation_p.I809S|TTN_ENST00000359218.5_Missense_Mutation_p.I809S|TTN_ENST00000342175.6_Missense_Mutation_p.I809S|TTN_ENST00000342992.6_Missense_Mutation_p.I855S|TTN_ENST00000360870.5_Missense_Mutation_p.I855S|TTN_ENST00000591111.1_Missense_Mutation_p.I855S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	855							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)			CGATTTGGTGATCTTCTGAGC	0.483000													18	26					0	0	0.00074312	0	0
NIM1K	167359	broad.mit.edu	37	5	43280373	43280373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:43280373G>A	ENST00000512796.1	+	4	2352	c.853G>A	c.(853-855)Gag>Aag	p.E285K	NIM1_ENST00000326035.2_Missense_Mutation_p.E285K			Q8IY84	NIM1_HUMAN		285	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										GAGCATCCTCGAGGGCACATA	0.567000													11	19					0	0	0.000978159	0	0
XIRP1	165904	broad.mit.edu	37	3	39226637	39226637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:39226637C>T	ENST00000340369.3	-	2	4528	c.4300G>A	c.(4300-4302)Gat>Aat	p.D1434N	XIRP1_ENST00000421646.1_Missense_Mutation_p.D117N|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1434							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAGGTGGGATCATGGTTGAGG	0.632000													35	46					0	0	0.00428921	0	0
ANK3	288	broad.mit.edu	37	10	61926631	61926631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:61926631C>T	ENST00000280772.1	-	22	2693	c.2502G>A	c.(2500-2502)atG>atA	p.M834I	ANK3_ENST00000503366.1_Missense_Mutation_p.M817I|ANK3_ENST00000460468.1_Start_Codon_SNP_p.M1I|ANK3_ENST00000373827.2_Missense_Mutation_p.M828I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	834					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGGAACATTCATTTTGTGCT	0.318000													22	43					0	0	0.00278032	0	0
ASH2L	9070	broad.mit.edu	37	8	37986355	37986355	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:37986355C>T	ENST00000343823.6	+	12	1722	c.1413C>T	c.(1411-1413)tcC>tcT	p.S471S	ASH2L_ENST00000428278.2_Silent_p.S377S|ASH2L_ENST00000521652.1_Silent_p.S377S|ASH2L_ENST00000545394.1_Silent_p.S332S|ASH2L_ENST00000250635.7_Silent_p.S377S	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	471	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TCCACCAGTCCATTGGCAAAC	0.428000													69	170					0	0	0.00361006	0	0
FAM135B	51059	broad.mit.edu	37	8	139263132	139263132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:139263132G>A	ENST00000395297.1	-	6	664	c.494C>T	c.(493-495)tCg>tTg	p.S165L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	165										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GACGGTCACCGAGATCACAGA	0.582000										HNSCC(54;0.14)			34	67					0	0	0.0024448	0	0
TRABD2A	129293	broad.mit.edu	37	2	85051299	85051299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:85051299G>A	ENST00000335459.5	-	5	1170	c.965C>T	c.(964-966)cCc>cTc	p.P322L	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Missense_Mutation_p.P371L	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		GGACAGAGTGGGCCGTGTGGA	0.567000													10	20					0	0	0.00136819	0	0
ANKS3	124401	broad.mit.edu	37	16	4774810	4774810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:4774810G>A	ENST00000304283.4	-	6	808	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	ANKS3_ENST00000592711.1_Missense_Mutation_p.P65S|ANKS3_ENST00000446014.2_Missense_Mutation_p.P43S|ANKS3_ENST00000585773.1_Missense_Mutation_p.P99S|ANKS3_ENST00000450067.2_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	172										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TCCATCAAGGGAGTAAATCCA	0.473000													11	21					0	0	0.00136819	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518707	41518707	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:41518707C>T	ENST00000324071.4	+	8	1288	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	CYP2B6_ENST00000593831.1_Silent_p.I191I|CYP2B6_ENST00000330446.5_Silent_p.I227I	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	427					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	AAGCTTTTATCCCCTTCTCCT	0.463000													50	124					0	0	0.00361006	0	0
BRCA2	675	broad.mit.edu	37	13	32914811	32914811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:32914811C>T	ENST00000544455.1	+	11	6546	c.6319C>T	c.(6319-6321)Cct>Tct	p.P2107S	BRCA2_ENST00000380152.3_Missense_Mutation_p.P2107S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2107					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAATACTTCCTCGTGTTGA	0.333000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			16	40					0	0	0.00316338	0	0
AFF3	3899	broad.mit.edu	37	2	100199407	100199407	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:100199407G>A	ENST00000317233.4	-	16	2881	c.2646C>T	c.(2644-2646)ccC>ccT	p.P882P	AFF3_ENST00000409579.1_Silent_p.P907P|AFF3_ENST00000409236.1_Silent_p.P882P|AFF3_ENST00000356421.2_Silent_p.P907P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	882					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CATCAGAGAGGGGTGAGATGG	0.418000													15	37					0	0	0.00074312	0	0
CCKAR	886	broad.mit.edu	37	4	26483390	26483390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:26483390G>A	ENST00000295589.3	-	5	1351	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	386					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GGGGCAGCAGGGGAAGGTGGC	0.622000													18	69					0	0	0.000566183	0	0
USH2A	7399	broad.mit.edu	37	1	216138689	216138689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:216138689G>A	ENST00000366943.2	-	37	7476	c.7090C>T	c.(7090-7092)Ctt>Ttt	p.L2364F	USH2A_ENST00000307340.3_Missense_Mutation_p.L2364F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2364	Fibronectin type-III 10.				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)		CCAGTGAAAAGGACTGAGTGT	0.363000										HNSCC(13;0.011)			31	57					0	0	0.00327116	0	0
ZNF300	91975	broad.mit.edu	37	5	150276484	150276484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:150276484G>A	ENST00000446148.2	-	7	792	c.365C>T	c.(364-366)tCc>tTc	p.S122F	ZNF300_ENST00000418587.2_Missense_Mutation_p.S70F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.S106F|ZNF300_ENST00000394226.2_Missense_Mutation_p.S106F	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGATGGAAGGAAACTGTCCC	0.388000													19	35					0	0	0.00152264	0	0
NPY2R	4887	broad.mit.edu	37	4	156135297	156135297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:156135297C>T	ENST00000329476.3	+	2	695	c.206C>T	c.(205-207)tCc>tTc	p.S69F	NPY2R_ENST00000506608.1_Missense_Mutation_p.S69F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	69					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ATTGGCAACTCCTTGGTGATC	0.453000													15	39					0	0	0.00244969	0	0
SCN9A	6335	broad.mit.edu	37	2	167060472	167060472	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:167060472G>A	ENST00000375387.4	-	26	5110	c.4770C>T	c.(4768-4770)tcC>tcT	p.S1590S	SCN9A_ENST00000409672.1_Silent_p.S1578S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.S1589S|SCN9A_ENST00000303354.6_Silent_p.S1590S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1589						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TACCTACAATGGAGATAATCA	0.323000													5	7					0	0	0.00116845	0	0
STEAP4	79689	broad.mit.edu	37	7	87913151	87913151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:87913151C>T	ENST00000380079.4	-	2	535	c.434G>A	c.(433-435)gGa>gAa	p.G145E	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.G145E|STEAP4_ENST00000414498.1_Missense_Mutation_p.G145E	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	145					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATCCAGTGCTCCTGACTGGAG	0.418000													29	23					0	0	0.0024448	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499498	34499498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:34499498G>A	ENST00000538621.1	+	9	1404	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	PACSIN1_ENST00000374043.2_Missense_Mutation_p.G345R|PACSIN1_ENST00000244458.2_Missense_Mutation_p.G387R	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	387	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CGACTCCAAGGGAGTGCGCGT	0.657000													37	81					0	0	0.00170553	0	0
TENM2	57451	broad.mit.edu	37	5	167675128	167675128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:167675128G>A	ENST00000519204.1	+	26	6939	c.6821G>A	c.(6820-6822)gGg>gAg	p.G2274E	TENM2_ENST00000518659.1_Missense_Mutation_p.G2395E|TENM2_ENST00000520394.1_Missense_Mutation_p.G2156E|TENM2_ENST00000403607.2_Missense_Mutation_p.G2219E|TENM2_ENST00000545108.1_Missense_Mutation_p.G2394E					teneurin transmembrane protein 2																		ACGGCCTATGGGGAGATTTAT	0.532000													45	98					0	0	0.00361006	0	0
TCAIM	285343	broad.mit.edu	37	3	44441962	44441962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:44441962C>T	ENST00000342649.4	+	9	1428	c.1001C>T	c.(1000-1002)cCa>cTa	p.P334L	TCAIM_ENST00000417237.1_Missense_Mutation_p.P334L	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		GAATTACAGCCAGTATTGACA	0.338000													18	45					0	0	0.00074312	0	0
SCPEP1	59342	broad.mit.edu	37	17	55062798	55062798	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:55062798C>T	ENST00000262288.3	+	3	340	c.285C>T	c.(283-285)gaC>gaT	p.D95D	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	95					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GGCCCCTTGACAGTGATCTCA	0.512000													36	19					0	0	0.0025221	0	0
TDRD5	163589	broad.mit.edu	37	1	179631298	179631298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:179631298G>A	ENST00000444136.1	+	15	2632	c.2382G>A	c.(2380-2382)tgG>tgA	p.W794*	TDRD5_ENST00000294848.8_Nonsense_Mutation_p.W740*|TDRD5_ENST00000367614.1_Nonsense_Mutation_p.W740*	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	792					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATGATATTTGGGATGAGAACT	0.423000													15	35					0	0	0.00121646	0	0
WNT3A	89780	broad.mit.edu	37	1	228238380	228238380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:228238380C>T	ENST00000284523.1	+	3	415	c.337C>T	c.(337-339)Cac>Tac	p.H113Y	WNT3A_ENST00000366753.2_Missense_Mutation_p.H113Y	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	113					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GGCCTTTGTCCACGCCATTGC	0.627000													11	50					0	0	0.000673444	0	0
CTSF	8722	broad.mit.edu	37	11	66332102	66332102	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:66332102G>A	ENST00000310325.5	-	11	1357	c.1248C>T	c.(1246-1248)atC>atT	p.I416I		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	416					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGGGCGGGAGATCCCGTGGC	0.627000													5	6					0	0	0.000602214	0	0
MTUS2	23281	broad.mit.edu	37	13	29600696	29600696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:29600696G>A	ENST00000431530.3	+	1	1949	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	621						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTATCAGGTTGAAAAAACAGA	0.522000													14	17					0	0	0.00244969	0	0
JAGN1	84522	broad.mit.edu	37	3	9934782	9934782	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:9934782C>T	ENST00000307768.4	+	2	442	c.273C>T	c.(271-273)tcC>tcT	p.S91S		NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1 (Drosophila)	91						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					GCCTTCTCTCCTTTCCCCGCA	0.517000													14	17					0	0	0.00185496	0	0
PADI3	51702	broad.mit.edu	37	1	17588638	17588638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:17588638C>T	ENST00000375460.3	+	3	324	c.284C>T	c.(283-285)tCc>tTc	p.S95F		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	95					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTTCAGATTTCCTACCACTCC	0.577000													7	23					0	0	0.000442599	0	0
CYTIP	9595	broad.mit.edu	37	2	158300434	158300434	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:158300434G>A	ENST00000264192.3	-	1	220	c.99C>T	c.(97-99)agC>agT	p.S33S	CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	33					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CCATCGTAAGGCTGCCGGTGA	0.502000													30	51					0	0	0.00209593	0	0
OR2T33	391195	broad.mit.edu	37	1	248436957	248436957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:248436957G>A	ENST00000318021.2	-	1	181	c.160C>T	c.(160-162)Cac>Tac	p.H54Y		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGGCGTGTGGAGCCGGTGG	0.527000													13	58					0	0	0.00188189	0	0
GBE1	2632	broad.mit.edu	37	3	81586211	81586211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:81586211G>A	ENST00000429644.2	-	13	2297	c.1654C>T	c.(1654-1656)Cca>Tca	p.P552S	GBE1_ENST00000489715.1_Missense_Mutation_p.P511S	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	552					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCTTTTCTTGGGAAGTCTAAC	0.348000									Glycogen Storage Disease, type IV				5	10					0	0	0.00198382	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75552442	75552442	+	Silent	SNP	C	C	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:75552442C>G	ENST00000604729.1	+	10	2442	c.2145C>G	c.(2143-2145)acC>acG	p.T715T	ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Silent_p.T715T|ZSWIM8_ENST00000605216.1_Silent_p.T715T|ZSWIM8_ENST00000604524.1_Silent_p.T715T|ZSWIM8_ENST00000603114.1_Silent_p.T682T					zinc finger, SWIM-type containing 8																		TTCCCAAAACCAAAGAGGCAG	0.602000													5	35					0	0	0.000602214	0	0
WNT10A	80326	broad.mit.edu	37	2	219754737	219754737	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:219754737C>T	ENST00000258411.3	+	3	1041	c.408C>T	c.(406-408)atC>atT	p.I136I	WNT10A_ENST00000483911.1_3'UTR	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	136					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTACGCCATCGCAGCAGCTG	0.617000													25	39					0	0	0.00106085	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072179	34072179	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:34072179C>T	ENST00000254466.6	-	6	2364	c.2337G>A	c.(2335-2337)agG>agA	p.R779R	GAS2L2_ENST00000587565.1_Silent_p.R763R	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	779					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGCCGAATCCTGGGTCTCA	0.612000													39	89					0	0	0.00128727	0	0
COL5A3	50509	broad.mit.edu	37	19	10071165	10071165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:10071165C>T	ENST00000264828.3	-	67	5245	c.5160G>A	c.(5158-5160)tgG>tgA	p.W1720*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1720	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCGCCACATCCCACAGGGGCA	0.572000													23	45					0	0	0.00332997	0	0
CORO1C	23603	broad.mit.edu	37	12	109042615	109042615	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:109042615G>A	ENST00000261401.3	-	10	1243	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	CORO1C_ENST00000421578.2_Silent_p.F252F|CORO1C_ENST00000541050.1_Silent_p.F357F|CORO1C_ENST00000549772.1_Silent_p.F363F|CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000420959.2_Silent_p.F410F	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	357					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GGTCATCTTGGAAAAGGTCAG	0.463000													19	44					0	0	0.00229938	0	0
SUGT1P3	283507	broad.mit.edu	37	13	41495637	41495637	+	RNA	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:41495637G>A	ENST00000304932.4	-	0	186					NR_003365.2																						GGTCCTGGTCGATTAGAGCAT	0.537000											OREG0022377	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	33					0	0	0.000566183	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673398	3673398	+	Missense_Mutation	SNP	G	G	A	rs150431597		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:3673398G>A	ENST00000344754.4	-	15	3799	c.3800C>T	c.(3799-3801)cCg>cTg	p.P1267L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1267L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1267	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGCCTCCGGAGCCAGGAT	0.657000													18	36					0	0	0.000958276	0	0
ZNF213	7760	broad.mit.edu	37	16	3188779	3188779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:3188779C>T	ENST00000396878.3	+	4	1032	c.557C>T	c.(556-558)cCc>cTc	p.P186L	ZNF213_ENST00000574902.1_Missense_Mutation_p.P186L|ZNF213_ENST00000416391.2_Intron|ZNF213_ENST00000576416.1_Missense_Mutation_p.P186L	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	186					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GAGGGTCGTCCCGGAGAGACG	0.552000													7	19					0	0	0.00198382	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427665	197427665	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:197427665C>T	ENST00000273582.5	-	7	1445	c.900G>A	c.(898-900)caG>caA	p.Q300Q	KIAA0226_ENST00000296343.5_Silent_p.Q360Q|KIAA0226_ENST00000449205.1_Silent_p.Q360Q|KIAA0226_ENST00000389665.5_Silent_p.Q360Q	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	360	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AATCTGGCTTCTGGGAGCTGC	0.602000													11	47					0	0	0.00185496	0	0
MYH1	4619	broad.mit.edu	37	17	10415854	10415854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:10415854C>T	ENST00000226207.5	-	12	1112	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	340	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCCAGAATTTCAATGGCACTC	0.398000													10	35					0	0	0.000673444	0	0
MICAL3	57553	broad.mit.edu	37	22	18301313	18301313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:18301313G>A	ENST00000441493.2	-	26	4466	c.4114C>T	c.(4114-4116)Ccc>Tcc	p.P1372S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1372	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCATCCTGGGGGGACTTTTCA	0.642000													64	126					0	0	0.00361006	0	0
IL21R	50615	broad.mit.edu	37	16	27460428	27460428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:27460428C>T	ENST00000337929.3	+	9	1914	c.1441C>T	c.(1441-1443)Ccc>Tcc	p.P481S	IL21R_ENST00000395755.1_Missense_Mutation_p.P481S|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.P481S|IL21R_ENST00000564089.1_Missense_Mutation_p.P481S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	481					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGCGGGCTCACCCCTGGCCGG	0.652000			T	BCL6	NHL								12	24					0	0	0.00136819	0	0
MRPL1	65008	broad.mit.edu	37	4	78792967	78792967	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:78792967T>G	ENST00000315567.8	+	2	430	c.101T>G	c.(100-102)gTa>gGa	p.V34G		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	34							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TCTTGTTCTGTAAACATCCGA	0.299000													19	45					0	0	0.00278032	0	0
NOP9	161424	broad.mit.edu	37	14	24774194	24774194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:24774194C>T	ENST00000267425.3	+	10	1897	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*	NOP9_ENST00000396802.3_3'UTR	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		CCATGTGGCTCGAAATGTGGC	0.547000													16	27					0	0	0.00400662	0	0
ASL	435	broad.mit.edu	37	7	65553815	65553815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:65553815C>T	ENST00000304874.9	+	11	842	c.740C>T	c.(739-741)tCg>tTg	p.S247L	AC068533.7_ENST00000450043.1_Silent_p.F15F|ASL_ENST00000380839.4_Missense_Mutation_p.S221L|ASL_ENST00000395332.3_Missense_Mutation_p.S247L|ASL_ENST00000395331.3_Missense_Mutation_p.S247L	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	247					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TTCTGGGCTTCGCTGTGCATG	0.587000													9	22					0	0	0.000673444	0	0
ATAD5	79915	broad.mit.edu	37	17	29162147	29162147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:29162147G>A	ENST00000321990.4	+	2	1426	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	350					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAGCAATTTGAAATGGAAAA	0.363000													7	35					0	0	0.00198382	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092719	151092719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:151092719C>T	ENST00000370335.1	+	3	850	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	MAGEA4_ENST00000393920.1_Nonsense_Mutation_p.Q195*|MAGEA4_ENST00000370340.3_Nonsense_Mutation_p.Q195*|MAGEA4_ENST00000360243.2_Nonsense_Mutation_p.Q195*|MAGEA4_ENST00000276344.2_Nonsense_Mutation_p.Q195*|MAGEA4_ENST00000370337.4_Nonsense_Mutation_p.Q195*|MAGEA4_ENST00000393921.1_Nonsense_Mutation_p.Q195*			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	195	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTAATAATCAGATCTTTCC	0.547000													34	16					0	0	0.00283554	0	0
GAPVD1	26130	broad.mit.edu	37	9	128086088	128086088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:128086088C>T	ENST00000470056.1	+	9	1904	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C	GAPVD1_ENST00000394083.2_Missense_Mutation_p.R561C|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R582C|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R561C|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R582C|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R582C|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R582C|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R582C			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	582					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCTTCAAATCGCTCCAATTC	0.423000													7	10					0	0	0.00198382	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95480910	95480910	+	RNA	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:95480910C>T	ENST00000432432.2	-	0	2450					NR_040113.1																						TTACTTTTCTCTTCTAGTACG	0.353000													55	104					0	0	0.00361006	0	0
CELA3A	10136	broad.mit.edu	37	1	22336293	22336293	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:22336293C>T	ENST00000290122.3	+	7	757	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGCAACTTCATCTGGAAGC	0.612000													15	32					0	0	0.00244969	0	0
COL7A1	1294	broad.mit.edu	37	3	48614433	48614433	+	Missense_Mutation	SNP	C	C	T	rs146234310		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:48614433C>T	ENST00000328333.8	-	65	5667	c.5560G>A	c.(5560-5562)Ggg>Agg	p.G1854R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1854R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1854	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)		ACCTTCCTCCCGTCTTCTCCA	0.547000													25	54					0	0	0.00127121	0	0
SSX2IP	117178	broad.mit.edu	37	1	85135375	85135375	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:85135375A>G	ENST00000437941.2	-	3	686	c.334T>C	c.(334-336)Tca>Cca	p.S112P	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000342203.3_Missense_Mutation_p.S139P|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S139P|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S112P	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	139					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTAAGTTTTGAGTAGCAGCTC	0.353000													18	57					0	0	0.00152264	0	0
LRP1B	53353	broad.mit.edu	37	2	141458040	141458040	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:141458040C>A	ENST00000389484.3	-	41	7549	c.6578G>T	c.(6577-6579)gGa>gTa	p.G2193V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2193					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTGTTCTTCCTGAATACAG	0.383000										TSP Lung(27;0.18)			21	43					3.62473e-10	8.33688e-10	0.00188189	1	0
MCOLN2	255231	broad.mit.edu	37	1	85405263	85405263	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:85405263G>A	ENST00000370608.3	-	9	1150	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	MCOLN2_ENST00000284027.5_Silent_p.S333S|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	361						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTTTTAATATGGAGCCAATGA	0.463000													15	27					0	0	0.00400662	0	0
OR11H1	81061	broad.mit.edu	37	22	16449682	16449682	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:16449682G>A	ENST00000252835.4	-	1	123	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GTGAGAAGAGGAAGATCTGAA	0.428000													15	103					0	0	0.00283554	0	0
STYK1	55359	broad.mit.edu	37	12	10774548	10774548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:10774548G>A	ENST00000075503.3	-	10	1511	c.991C>T	c.(991-993)Cct>Tct	p.P331S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	331	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTGGTAGGAGGGACTTCAGGA	0.418000										HNSCC(73;0.22)			37	78					0	0	0.00170553	0	0
RGS22	26166	broad.mit.edu	37	8	101075873	101075873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:101075873C>T	ENST00000360863.6	-	8	1317	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	RGS22_ENST00000523437.1_Missense_Mutation_p.E363K|RGS22_ENST00000523287.1_Missense_Mutation_p.E194K	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	375					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCTGACCTCTCCTTTGTAGTT	0.353000													15	30					0	0	0.00244969	0	0
TTPAL	79183	broad.mit.edu	37	20	43108797	43108797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:43108797G>A	ENST00000372904.3	+	3	301	c.158G>A	c.(157-159)tGg>tAg	p.W53*	TTPAL_ENST00000262605.4_Nonsense_Mutation_p.W53*|TTPAL_ENST00000372906.2_Nonsense_Mutation_p.W53*	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	53						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAGCCGGAATGGAGACTTCGA	0.592000													9	13					0	0	0.000442599	0	0
TENM2	57451	broad.mit.edu	37	5	167625888	167625888	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:167625888C>T	ENST00000519204.1	+	15	2686	c.2568C>T	c.(2566-2568)tcC>tcT	p.S856S	TENM2_ENST00000518659.1_Silent_p.S977S|TENM2_ENST00000520394.1_Silent_p.S745S|TENM2_ENST00000403607.2_Silent_p.S801S|TENM2_ENST00000545108.1_Silent_p.S977S					teneurin transmembrane protein 2																		GAGGTGCTTCCTTGACTCTAC	0.547000													23	53					0	0	0.000720815	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242404	87242404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:87242404G>A	ENST00000297524.3	-	1	206	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	SLC7A13_ENST00000419776.2_Missense_Mutation_p.P35S|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	35						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ACACCTTTGGGGGACACAAAA	0.473000													30	42					0	0	0.00127121	0	0
LRTM2	654429	broad.mit.edu	37	12	1943665	1943665	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:1943665G>A	ENST00000543818.1	+	5	1733	c.891G>A	c.(889-891)caG>caA	p.Q297Q	LRTM2_ENST00000535041.1_Silent_p.Q297Q|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Silent_p.Q297Q|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	297						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CACAGAAGCAGAGGCACCGGC	0.687000													16	31					0	0	0.000566183	0	0
HEYL	26508	broad.mit.edu	37	1	40092660	40092660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:40092660G>A	ENST00000372852.3	-	5	825	c.506C>T	c.(505-507)cCt>cTt	p.P169L	HEYL_ENST00000535435.1_Missense_Mutation_p.P141L	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	169	Pro-rich.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAGGCCAAAGGGCCAGTGGG	0.657000													14	39					0	0	0.000566183	0	0
DDX60	55601	broad.mit.edu	37	4	169227534	169227534	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:169227534C>T	ENST00000393743.3	-	5	893	c.602G>A	c.(601-603)tGg>tAg	p.W201*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	201							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AATTACCTTCCAGGAAAAAAT	0.373000													9	13					0	0	0.000442599	0	0
NLRP2	55655	broad.mit.edu	37	19	55495043	55495043	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:55495043G>A	ENST00000543010.1	+	6	2120	c.1977G>A	c.(1975-1977)aaG>aaA	p.K659K	NLRP2_ENST00000538819.1_Silent_p.K635K|NLRP2_ENST00000537859.1_Silent_p.K637K|NLRP2_ENST00000448584.2_Silent_p.K659K|NLRP2_ENST00000427260.2_Silent_p.K636K|NLRP2_ENST00000339757.7_Silent_p.K637K|NLRP2_ENST00000391721.4_Silent_p.K635K|NLRP2_ENST00000263437.6_Silent_p.K656K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	659					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGTAATAAAGGAGAATCTCC	0.473000													14	32					0	0	0.00244969	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147926752	147926752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:147926752C>T	ENST00000361727.3	+	20	3778	c.3262C>T	c.(3262-3264)Cga>Tga	p.R1088*	CNTNAP2_ENST00000538075.1_Nonsense_Mutation_p.R147*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1088	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R1088*(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTACAGATTCGATACAACCT	0.443000										HNSCC(39;0.1)			13	11					0	0	0.00136819	0	0
NFIC	4782	broad.mit.edu	37	19	3434308	3434308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:3434308C>T	ENST00000589123.1	+	5	836	c.716C>T	c.(715-717)tCc>tTc	p.S239F	NFIC_ENST00000395111.3_Missense_Mutation_p.S239F|NFIC_ENST00000586919.1_Missense_Mutation_p.S215F|NFIC_ENST00000443272.2_Missense_Mutation_p.S248F|NFIC_ENST00000346156.5_Missense_Mutation_p.S215F|NFIC_ENST00000341919.3_Missense_Mutation_p.S248F|NFIC_ENST00000590282.1_Missense_Mutation_p.S248F	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	248					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCAACTTCTCCCTGGGGGAG	0.617000													18	31					0	0	0.00074312	0	0
FPGT	8790	broad.mit.edu	37	1	74671320	74671320	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:74671320T>C	ENST00000370898.2	+	4	1626	c.1589T>C	c.(1588-1590)gTt>gCt	p.V530A	FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.4_3'UTR|TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.V276A|TNNI3K_ENST00000370891.2_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ATTTTCCCAGTTTGTTCTTCT	0.393000													24	57					0	0	0.00229938	0	0
GRM6	2916	broad.mit.edu	37	5	178417600	178417600	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:178417600G>A	ENST00000231188.5	-	4	1183	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S	GRM6_ENST00000517717.1_Silent_p.S335S	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	335					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CACCGTCGATGGAGGCCCTTT	0.622000													7	19					0	0	0.000442599	0	0
CD5L	922	broad.mit.edu	37	1	157805633	157805633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:157805633G>A	ENST00000368174.4	-	3	464	c.368C>T	c.(367-369)tCg>tTg	p.S123L		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	123	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTCTCACACGATGCCCCAGC	0.502000													76	62					0	0	0.00361006	0	0
FRMPD2	143162	broad.mit.edu	37	10	49381042	49381042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:49381042G>A	ENST00000374201.3	-	25	3472	c.3170C>T	c.(3169-3171)tCc>tTc	p.S1057F	FRMPD2_ENST00000474573.1_Missense_Mutation_p.S9F|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Missense_Mutation_p.S1032F|FRMPD2_ENST00000407470.4_Missense_Mutation_p.S1025F	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1057					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGTTACCAAGGAAACAGCCGT	0.498000													54	31					0	0	0.00361006	0	0
PRR15L	79170	broad.mit.edu	37	17	46030478	46030478	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:46030478C>T	ENST00000300557.2	-	2	373	c.123G>A	c.(121-123)agG>agA	p.R41R	RP11-6N17.9_ENST00000582262.1_RNA	NM_024320.3	NP_077296.1	Q9BU68	PR15L_HUMAN	proline rich 15-like	41										NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						CAGCGTCAGGCCTCGGGGGTT	0.547000													90	52					0	0	0.00361006	0	0
NWD1	284434	broad.mit.edu	37	19	16908556	16908556	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:16908556G>A	ENST00000524140.2	+	16	3736	c.3318G>A	c.(3316-3318)tcG>tcA	p.S1106S	NWD1_ENST00000339803.6_Silent_p.S971S|NWD1_ENST00000552788.1_Silent_p.S1106S|NWD1_ENST00000549814.1_Silent_p.S1106S|NWD1_ENST00000379808.3_Silent_p.S1106S|NWD1_ENST00000523826.1_Silent_p.S900S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1106							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGGAAGATCGGTGCGGATAT	0.522000													30	60					0	0	0.00283554	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910822	230910822	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:230910822G>A	ENST00000295190.4	-	4	1478	c.1020C>T	c.(1018-1020)atC>atT	p.I340I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	340						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACAAATTGACGATTTCTGGGA	0.408000													9	19					0	0	0.000673444	0	0
AMER1	139285	broad.mit.edu	37	X	63410946	63410946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:63410946G>A	ENST00000330258.3	-	2	2493	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	AMER1_ENST00000374869.3_Missense_Mutation_p.P741S|AMER1_ENST00000403336.1_Missense_Mutation_p.P741S	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GCCCTCCTGGGAGATCCTCCA	0.507000													15	3					0	0	0.00121646	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967114	58967114	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:58967114A>G	ENST00000391696.1	+	3	1705	c.773A>G	c.(772-774)aAg>aGg	p.K258R	ZNF324B_ENST00000336614.4_Missense_Mutation_p.K268R|ZNF324B_ENST00000545523.1_Missense_Mutation_p.K268R			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTGTTCGTGAAGAGCTCCGAC	0.652000													8	31					0	0	0.000673444	0	0
CPNE6	9362	broad.mit.edu	37	14	24545385	24545385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:24545385G>A	ENST00000397016.2	+	12	1263	c.952G>A	c.(952-954)Ggg>Agg	p.G318R	CPNE6_ENST00000537691.1_Missense_Mutation_p.G373R|CPNE6_ENST00000216775.2_Missense_Mutation_p.G318R			O95741	CPNE6_HUMAN	copine VI (neuronal)	318	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CGCCTCCAATGGGGACCCGAG	0.632000													11	16					0	0	0.00136819	0	0
ZNF438	220929	broad.mit.edu	37	10	31138998	31138998	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:31138998G>A	ENST00000538351.1	-	7	943	c.189C>T	c.(187-189)tcC>tcT	p.S63S	ZNF438_ENST00000436087.2_Silent_p.S112S|ZNF438_ENST00000331737.6_Silent_p.S102S|ZNF438_ENST00000452305.1_Silent_p.S102S|ZNF438_ENST00000444692.2_Silent_p.S102S|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000361310.3_Silent_p.S112S|ZNF438_ENST00000413025.1_Silent_p.S112S|ZNF438_ENST00000442986.1_Silent_p.S112S	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TTTCAGGTAGGGACATTCTGG	0.468000													23	60					0	0	0.00278032	0	0
TMEM37	140738	broad.mit.edu	37	2	120194547	120194547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:120194547C>T	ENST00000306406.4	+	2	139	c.104C>T	c.(103-105)gCc>gTc	p.A35V	TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Missense_Mutation_p.A47V	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	35						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ACGTGTGTGGCCCTGGCTGTG	0.607000													24	54					0	0	0.00332997	0	0
SBF1	6305	broad.mit.edu	37	22	50906053	50906053	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:50906053G>A	ENST00000380817.2	-	4	529	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	SBF1_ENST00000348911.6_Silent_p.L117L|SBF1_ENST00000390679.3_Silent_p.L116L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	116					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGGAGACAGGTGGGTCTGG	0.667000													17	28					0	0	0.000958276	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98506933	98506933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:98506933C>T	ENST00000265261.6	+	7	553	c.131C>T	c.(130-132)aCc>aTc	p.T44I	ST3GAL6_ENST00000483910.1_Missense_Mutation_p.T162I|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.T162I	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	162					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AGAAGGACAACCTTCCGACTT	0.373000													6	20					0	0	0.00116845	0	0
CNBD1	168975	broad.mit.edu	37	8	88249250	88249250	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:88249250C>T	ENST00000518476.1	+	6	732	c.681C>T	c.(679-681)ttC>ttT	p.F227F	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	227										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CAGACTCGTTCATATCTCAGA	0.378000													34	62					0	0	0.00283554	0	0
MYO5B	4645	broad.mit.edu	37	18	47581679	47581679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:47581679C>T	ENST00000285039.7	-	2	396	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	33	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTGTCTCCTTCTTTGTAGTCC	0.537000													26	51					0	0	0.00127121	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98506934	98506934	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:98506934C>T	ENST00000265261.6	+	7	554	c.132C>T	c.(130-132)acC>acT	p.T44T	ST3GAL6_ENST00000483910.1_Silent_p.T162T|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Silent_p.T162T	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	162					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GAAGGACAACCTTCCGACTTT	0.373000													6	20					0	0	0.00116845	0	0
DPP6	1804	broad.mit.edu	37	7	154672628	154672628	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:154672628G>A	ENST00000404039.1	+	21	2504	c.1917G>A	c.(1915-1917)agG>agA	p.R639R	DPP6_ENST00000377770.3_Silent_p.R703R|DPP6_ENST00000427557.1_Silent_p.R596R|DPP6_ENST00000332007.3_Silent_p.R641R	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	703					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACATTGACAGGACGCGCGTGG	0.572000													13	31					0	0	0.00185496	0	0
CATSPER3	347732	broad.mit.edu	37	5	134347254	134347254	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:134347254A>G	ENST00000282611.6	+	8	1224	c.1138A>G	c.(1138-1140)Atg>Gtg	p.M380V		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	380					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTGAGCCTAATGCTGGAAGA	0.552000													7	23					0	0	0.000274275	0	0
KRCC1	51315	broad.mit.edu	37	2	88327609	88327609	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:88327609C>T	ENST00000347055.3	-	4	867	c.474G>A	c.(472-474)caG>caA	p.Q158Q		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	158	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTTTCCTCTTCTGATGTATCT	0.423000													33	70					0	0	0.00209593	0	0
KLHL38	340359	broad.mit.edu	37	8	124664923	124664923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:124664923G>A	ENST00000325995.7	-	1	267	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	82	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGGGTTGGGGGGTCAATGCCT	0.587000													10	31					0	0	0.000673444	0	0
OR4K5	79317	broad.mit.edu	37	14	20389385	20389385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:20389385C>T	ENST00000315915.4	+	1	645	c.620C>T	c.(619-621)tCc>tTc	p.S207F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAATTCTTTCCCTAAGCACT	0.418000													48	77					0	0	0.00361006	0	0
OR13G1	441933	broad.mit.edu	37	1	247835968	247835968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:247835968G>A	ENST00000359688.2	-	1	397	c.376C>T	c.(376-378)Cct>Tct	p.P126S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAATGAAGAGGGAAACAAATG	0.493000													6	22					0	0	0.00116845	0	0
CNTN4	152330	broad.mit.edu	37	3	3085301	3085301	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:3085301C>T	ENST00000397461.1	+	22	3108	c.2724C>T	c.(2722-2724)atC>atT	p.I908I	CNTN4_ENST00000418658.1_Silent_p.I908I|CNTN4_ENST00000358480.3_Silent_p.I689I|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Silent_p.I908I|CNTN4_ENST00000448906.2_Silent_p.I580I|CNTN4_ENST00000397459.2_Silent_p.I580I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	908	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCGGAAACATCATATGGAATT	0.368000													11	28					0	0	0.00136819	0	0
TACC2	10579	broad.mit.edu	37	10	123987414	123987414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:123987414C>T	ENST00000369005.1	+	14	8127	c.7787C>T	c.(7786-7788)cCa>cTa	p.P2596L	TACC2_ENST00000515603.1_Missense_Mutation_p.P2551L|TACC2_ENST00000515273.1_Missense_Mutation_p.P2600L|TACC2_ENST00000360561.3_Missense_Mutation_p.P674L|TACC2_ENST00000369004.3_Missense_Mutation_p.P686L|TACC2_ENST00000369001.1_Missense_Mutation_p.P300L|TACC2_ENST00000260733.3_Missense_Mutation_p.P674L|TACC2_ENST00000453444.2_Missense_Mutation_p.P2600L|TACC2_ENST00000513429.1_Missense_Mutation_p.P742L|TACC2_ENST00000369000.1_Missense_Mutation_p.P296L|TACC2_ENST00000358010.1_Missense_Mutation_p.P742L|TACC2_ENST00000334433.3_Missense_Mutation_p.P2596L|TACC2_ENST00000368999.1_Missense_Mutation_p.P686L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2596						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCCTGTCCCACGAGGACTG	0.542000													24	67					0	0	0.00278032	0	0
ZNF433	163059	broad.mit.edu	37	19	12126357	12126357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:12126357C>T	ENST00000419886.2	-	5	1511	c.1220G>A	c.(1219-1221)aGg>aAg	p.R407K	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.R442K			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CGTGTGAGTCCTACCATGTGT	0.418000													26	45					0	0	0.00178596	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67560655	67560655	+	RNA	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:67560655A>G	ENST00000528089.1	-	0	1095																											TTGGAGTCGTATGTGAGTCCT	0.453000													4	74					0	0	0.00116845	0	0
GAS2	2620	broad.mit.edu	37	11	22833377	22833377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:22833377G>A	ENST00000454584.2	+	8	1062	c.757G>A	c.(757-759)Gga>Aga	p.G253R	GAS2_ENST00000433790.1_Missense_Mutation_p.G253R|GAS2_ENST00000278187.3_Missense_Mutation_p.G253R	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	253	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GGTCCGTGTGGGAGGAGGCTG	0.453000													28	62					0	0	0.0024448	0	0
THBS2	7058	broad.mit.edu	37	6	169637409	169637409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:169637409G>A	ENST00000366787.3	-	10	1582	c.1333C>T	c.(1333-1335)Cct>Tct	p.P445S	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	445	TSP type-1 2.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GAAGACCAAGGTGACCAGTGG	0.582000													6	25					0	0	0.00198382	0	0
TSPYL2	64061	broad.mit.edu	37	X	53117121	53117121	+	Nonstop_Mutation	SNP	A	A	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:53117121A>T	ENST00000375442.4	+	7	2214	c.2082A>T	c.(2080-2082)taA>taT	p.*694Y		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	0					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AAACCGGATAAGGGTTTTCCC	0.572000											OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	7					0	0	0.00229938	0	0
RAD9A	5883	broad.mit.edu	37	11	67161031	67161031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:67161031C>T	ENST00000307980.2	+	4	392	c.299C>T	c.(298-300)tCc>tTc	p.S100F		NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	100			S -> A (in dbSNP:rs2066492).		DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TGCTGCATCTCCCTGAATGGC	0.602000								Other conserved DNA damage response genes					10	25					0	0	0.00185496	0	0
OR5L1	219437	broad.mit.edu	37	11	55579742	55579742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:55579742G>A	ENST00000333973.2	+	1	889	c.800G>A	c.(799-801)aGt>aAt	p.S267N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S267I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCAGGCAATAGTGGAGATGCT	0.478000													21	40					0	0	0.00152264	0	0
NPC1	4864	broad.mit.edu	37	18	21119887	21119887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:21119887C>T	ENST00000269228.5	-	18	3237	c.2683G>A	c.(2683-2685)Gaa>Aaa	p.E895K	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.E577K	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	895					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCGTGCCCTTCCTCCAGGACA	0.502000													31	54					0	0	0.000953801	0	0
AGBL4	84871	broad.mit.edu	37	1	49100233	49100233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:49100233G>A	ENST00000371839.1	-	9	999	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	AGBL4_ENST00000334103.7_Missense_Mutation_p.P28S|AGBL4_ENST00000371838.1_Missense_Mutation_p.P295S	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	295					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CATGGAGAGGGATCCAGCCAG	0.488000													5	8					0	0	0.00116845	0	0
SPTB	6710	broad.mit.edu	37	14	65234495	65234495	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:65234495C>T	ENST00000389722.3	-	29	6158	c.6105G>A	c.(6103-6105)ggG>ggA	p.G2035G	SPTB_ENST00000556626.1_Silent_p.G2035G|SPTB_ENST00000542895.1_Silent_p.G2035G|SPTB_ENST00000389720.3_Silent_p.G2035G|SPTB_ENST00000389721.5_Silent_p.G2035G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2035					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTCCAAAGTCCCCGCTGGCCA	0.617000													18	37					0	0	0.00121646	0	0
HRH2	3274	broad.mit.edu	37	5	175111210	175111210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:175111210C>T	ENST00000231683.2	+	1	2747	c.974C>T	c.(973-975)tCc>tTc	p.S325F	HRH2_ENST00000377291.2_Missense_Mutation_p.S325F	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	325					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	TCTCAGCTGTCCAGGACCCAA	0.597000													14	43					0	0	0.00185496	0	0
SCN11A	11280	broad.mit.edu	37	3	38892129	38892129	+	Silent	SNP	T	T	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:38892129T>C	ENST00000450244.1	-	25	4368	c.4170A>G	c.(4168-4170)caA>caG	p.Q1390Q	SCN11A_ENST00000456224.3_Silent_p.Q1352Q|SCN11A_ENST00000444237.2_Silent_p.Q1390Q|SCN11A_ENST00000302328.3_Silent_p.Q1390Q			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1390					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGGCTTTGGGTTGGTTGTATG	0.398000													21	61					0	0	0.00278032	0	0
CYP4F3	4051	broad.mit.edu	37	19	15759998	15759998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:15759998G>A	ENST00000221307.7	+	6	602	c.554G>A	c.(553-555)gGt>gAt	p.G185D	CYP4F3_ENST00000591058.1_Missense_Mutation_p.G185D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.G185D|CYP4F3_ENST00000586182.1_Missense_Mutation_p.G185D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	185				EGS -> KGY (in Ref. 3; AAC08589).	leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCCTCAGAGGGTAGTGCCCGT	0.557000													17	45					0	0	0.00074312	0	0
TNR	7143	broad.mit.edu	37	1	175332856	175332856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:175332856G>A	ENST00000367674.1	-	13	3403	c.2695C>T	c.(2695-2697)Cga>Tga	p.R899*	TNR_ENST00000263525.2_Nonsense_Mutation_p.R899*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	899	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R899*(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGGTGGGTCGATATGATACT	0.448000													44	58					0	0	0.00321405	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174830	150174830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:150174830G>A	ENST00000307271.3	+	5	2534	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	654						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCCAAGCCGAAAAACTCCT	0.463000													21	29					0	0	0.00188189	0	0
SALL1	6299	broad.mit.edu	37	16	51174276	51174276	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:51174276G>A	ENST00000440970.1	-	2	1997	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.P619P|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	619					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCCACCAGAGGGTGGCAGAG	0.652000													18	29					0	0	0.00121646	0	0
PCDH18	54510	broad.mit.edu	37	4	138452990	138452990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:138452990C>T	ENST00000344876.4	-	1	639	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E85K|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	85	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATGCTGATTTCCCCATTATCC	0.433000													34	92					0	0	0.000953801	0	0
CCDC54	84692	broad.mit.edu	37	3	107096770	107096770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:107096770G>A	ENST00000261058.1	+	1	583	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	112										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AAACCAGAATGAATGTTAATG	0.373000													10	20					0	0	0.000442599	0	0
SLC9A9	285195	broad.mit.edu	37	3	143371183	143371183	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:143371183G>A	ENST00000316549.6	-	6	877	c.669C>T	c.(667-669)ttC>ttT	p.F223F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	223					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCAGTTCATGGAAAATGGCCA	0.473000													5	8					0	0	0.00116845	0	0
TNNI3	7137	broad.mit.edu	37	19	55663277	55663277	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:55663277C>T	ENST00000344887.5	-	8	700	c.558G>A	c.(556-558)cgG>cgA	p.R186R	TNNI3_ENST00000588882.1_Silent_p.R161R	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	186			R -> Q (in CMH7).		cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTCCCACCTCCCGGTTTTCCT	0.572000													24	38					0	0	0.0024448	0	0
SGSM1	129049	broad.mit.edu	37	22	25264699	25264699	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:25264699T>C	ENST00000400358.4	+	12	1225	c.1168T>C	c.(1168-1170)Ttt>Ctt	p.F390L	SGSM1_ENST00000400359.4_Missense_Mutation_p.F390L	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	390						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGGCAAAGTGTTTCCTAAACT	0.498000													32	65					0	0	0.00283554	0	0
ELFN2	114794	broad.mit.edu	37	22	37771193	37771193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:37771193G>A	ENST00000402918.1	-	3	1167	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	ELFN2_ENST00000349653.3_Missense_Mutation_p.R128C|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	128						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AACTGCAGGCGGCTCATGCCT	0.632000													23	55					0	0	0.00229938	0	0
TTN	7273	broad.mit.edu	37	2	179516832	179516832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179516832G>A	ENST00000589042.1	-	204	39510	c.39286C>T	c.(39286-39288)Ccc>Tcc	p.P13096S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10662S|TTN_ENST00000591111.1_Missense_Mutation_p.P11589S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11449			R -> L.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P10662A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCAGGGGGAGGACTTTCC	0.343000													32	43					0	0	0.00111076	0	0
CRADD	8738	broad.mit.edu	37	12	94243947	94243947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:94243947G>A	ENST00000542893.2	+	3	818	c.500G>A	c.(499-501)tGg>tAg	p.W167*	CRADD_ENST00000332896.3_Nonsense_Mutation_p.W167*|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	167	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TTCATCCGTTGGCGGCAGCGC	0.632000													20	44					0	0	0.00152264	0	0
PEG3	5178	broad.mit.edu	37	19	57326417	57326417	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:57326417C>T	ENST00000326441.9	-	10	3756	c.3393G>A	c.(3391-3393)agG>agA	p.R1131R	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Silent_p.R1007R|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.R1005R|PEG3_ENST00000423103.2_Silent_p.R1131R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1131					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCAGGCACTTCCTGCTGTGGA	0.478000													39	78					0	0	0.00170553	0	0
TFCP2	7024	broad.mit.edu	37	12	51492581	51492581	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:51492581A>T	ENST00000307660.4	-	12	1964	c.1244T>A	c.(1243-1245)aTt>aAt	p.I415N	TFCP2_ENST00000549867.1_Missense_Mutation_p.I388N|TFCP2_ENST00000548115.1_Missense_Mutation_p.I415N|TFCP2_ENST00000257915.5_Missense_Mutation_p.I466N	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	466					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GAGCACATGAATTCCTGTTGG	0.433000													10	33					0	0	0.00185496	0	0
CMYA5	202333	broad.mit.edu	37	5	79089359	79089359	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:79089359C>T	ENST00000446378.2	+	12	11920	c.11889C>T	c.(11887-11889)tcC>tcT	p.S3963S	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3963	B30.2/SPRY.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCATCTGCTCCAGCTCGGCTG	0.602000													22	40					0	0	0.00278032	0	0
DPPA2	151871	broad.mit.edu	37	3	109019260	109019260	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:109019260A>T	ENST00000478945.1	-	8	1123	c.877T>A	c.(877-879)Tta>Ata	p.L293I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	293						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTGTCATTAATCTTTTCATC	0.338000													35	61					0	0	0.00111076	0	0
FANK1	92565	broad.mit.edu	37	10	127677178	127677178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:127677178C>T	ENST00000368695.1	+	3	354	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	FANK1_ENST00000449042.2_Missense_Mutation_p.R78C|FANK1_ENST00000368689.1_Missense_Mutation_p.R78C|FANK1_ENST00000368693.1_Missense_Mutation_p.R84C	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	84	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GTACAGATTTCGCCTGAAGGT	0.522000													55	109					0	0	0.00361006	0	0
DRGX	644168	broad.mit.edu	37	10	50598203	50598203	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:50598203T>C	ENST00000374139.2	-	3	220	c.210A>G	c.(208-210)atA>atG	p.I70M	DRGX_ENST00000434016.1_Missense_Mutation_p.I75M			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	75					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTGTGAGGTTTATTTTCATGG	0.388000													5	20					0	0	0.00116845	0	0
KIF4B	285643	broad.mit.edu	37	5	154394524	154394524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:154394524C>T	ENST00000435029.4	+	1	1265	c.1105C>T	c.(1105-1107)Cat>Tat	p.H369Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	369					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTACAAGCCCATGGAGGTAC	0.408000													31	51					0	0	0.00428921	0	0
NID2	22795	broad.mit.edu	37	14	52508839	52508839	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:52508839G>A	ENST00000216286.5	-	7	1808	c.1809C>T	c.(1807-1809)aaC>aaT	p.N603N	NID2_ENST00000541773.1_Silent_p.N550N	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	603	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGCTGAAGCCGTTCTCAGAGC	0.587000													37	69					0	0	0.00128727	0	0
FAM115A	9747	broad.mit.edu	37	7	143573471	143573471	+	Silent	SNP	G	G	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:143573471G>T	ENST00000479870.1	-	2	439	c.231C>A	c.(229-231)ctC>ctA	p.L77L	FAM115A_ENST00000355951.2_Silent_p.L77L|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	77										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					CTGCGTTCAGGAGAAAGGGCG	0.622000													12	17					1.61879e-10	3.72794e-10	0.00136819	1	0
CYP2C8	1558	broad.mit.edu	37	10	96824703	96824703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:96824703G>A	ENST00000371270.3	-	4	590	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	CYP2C8_ENST00000535898.1_Missense_Mutation_p.P64S|CYP2C8_ENST00000539050.1_Missense_Mutation_p.P80S	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	166					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATGAAAGTGGGATCACAGGGT	0.308000													20	54					0	0	0.00188189	0	0
OR4A47	403253	broad.mit.edu	37	11	48510946	48510946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:48510946G>A	ENST00000446524.1	+	1	678	c.602G>A	c.(601-603)gGa>gAa	p.G201E		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G201E(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTGGCCAATGGAGGACTGGCT	0.448000													22	59					0	0	0.00278032	0	0
ZNF587	84914	broad.mit.edu	37	19	58371159	58371159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:58371159G>A	ENST00000339656.5	+	3	1561	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	ZNF587_ENST00000423137.1_Missense_Mutation_p.G459E|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.G417E|ZNF814_ENST00000597342.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GTTCACACTGGAGAAAGGCCA	0.428000													23	74					0	0	0.00332997	0	0
ZNF462	58499	broad.mit.edu	37	9	109690165	109690165	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:109690165C>T	ENST00000277225.5	+	3	4261	c.3972C>T	c.(3970-3972)ccC>ccT	p.P1324P	ZNF462_ENST00000441147.2_Silent_p.P169P|ZNF462_ENST00000457913.1_Silent_p.P1324P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1324					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATACGGAGCCCAACGGTTTGC	0.527000													30	23					0	0	0.00127121	0	0
DGUOK	1716	broad.mit.edu	37	2	74177814	74177814	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:74177814C>G	ENST00000264093.4	+	4	631	c.546C>G	c.(544-546)agC>agG	p.S182R	DGUOK_ENST00000356837.6_Missense_Mutation_p.S160R|DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000462685.1_3'UTR	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	182					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						AGTTTGCCAGCCGGATCACAT	0.443000													61	143					0	0	0.00361006	0	0
DST	667	broad.mit.edu	37	6	56473809	56473809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:56473809G>A	ENST00000370754.5	-	39	5517	c.5518C>T	c.(5518-5520)Ctt>Ttt	p.L1840F	DST_ENST00000446842.2_Missense_Mutation_p.L1336F|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.L1662F|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.L1662F|DST_ENST00000361203.3_Missense_Mutation_p.L1662F			Q03001	DYST_HUMAN	dystonin	1662					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTATCTCAAGAACTTTGATG	0.443000													72	158					0	0	0.00361006	0	0
SPATS1	221409	broad.mit.edu	37	6	44344094	44344094	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:44344094G>A	ENST00000288390.2	+	7	1105		c.e7-1		SPATS1_ENST00000323108.8_Splice_Site			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTCCCACAGCTTGCCTTTC	0.443000													6	9					0	0	0.00198382	0	0
MSR1	4481	broad.mit.edu	37	8	15998534	15998534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:15998534G>A	ENST00000381998.4	-	9	1119	c.1054C>T	c.(1054-1056)Cat>Tat	p.H352Y	MSR1_ENST00000262101.5_Intron|MSR1_ENST00000445506.2_Intron|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000536385.1_Missense_Mutation_p.H126Y|MSR1_ENST00000350896.3_Intron	NM_002445.3	NP_002436.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	0	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GCCCTAATATGATCAGTGAGT	0.403000													32	61					0	0	0.00428921	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18021672	18021672	+	Silent	SNP	C	C	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:18021672C>A	ENST00000361221.3	+	28	3363	c.3204C>A	c.(3202-3204)gtC>gtA	p.V1068V	ARHGEF10L_ENST00000375415.1_Silent_p.V1029V|ARHGEF10L_ENST00000167825.4_Silent_p.V771V|ARHGEF10L_ENST00000375408.3_Silent_p.V841V|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Silent_p.V1029V	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1068					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACTTGTGTGTCACCAGCCTCC	0.632000													24	41					9.86323e-18	2.2859e-17	0.00395357	1	0
SUSD2	56241	broad.mit.edu	37	22	24579487	24579487	+	Silent	SNP	C	C	T	rs143350390	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:24579487C>T	ENST00000358321.3	+	3	573	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	104					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCCAGACCCTCGGCCATGTGG	0.627000													20	58					0	0	0.00278032	0	0
ANK3	288	broad.mit.edu	37	10	61831321	61831321	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:61831321T>A	ENST00000280772.1	-	37	9509	c.9318A>T	c.(9316-9318)gaA>gaT	p.E3106D	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3106					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTATCTCCTTTTCATATTGCT	0.403000													50	77					0	0	0.00361006	0	0
APLNR	187	broad.mit.edu	37	11	57004463	57004463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:57004463C>T	ENST00000606794.1	-	1	212	c.16G>A	c.(16-18)Gat>Aat	p.D6N		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	6						integral to plasma membrane	G-protein coupled receptor activity	p.D6N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTGTCAAAATCACCACCTTCC	0.562000													17	32					0	0	0.000958276	0	0
CCNH	902	broad.mit.edu	37	5	86703870	86703870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:86703870G>A	ENST00000508855.1	-	3	278	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	CCNH_ENST00000513499.1_Intron|CCNH_ENST00000256897.4_Missense_Mutation_p.L150F|CCNH_ENST00000504878.1_Missense_Mutation_p.L76F			P51946	CCNH_HUMAN	cyclin H	150					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		TGCTGTATAAGAAGTAGTTCA	0.393000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					19	59					0	0	0.00121646	0	0
PKHD1	5314	broad.mit.edu	37	6	51918863	51918863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:51918863C>T	ENST00000371117.3	-	20	2212	c.1937G>A	c.(1936-1938)tGg>tAg	p.W646*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.W646*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	646					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CGTGAGACTCCAGTCACAGGT	0.502000													11	27					0	0	0.000673444	0	0
KLF11	8462	broad.mit.edu	37	2	10192597	10192597	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:10192597C>A	ENST00000535335.1	+	4	1667	c.1451C>A	c.(1450-1452)cCg>cAg	p.P484Q	KLF11_ENST00000540845.1_Missense_Mutation_p.P484Q|KLF11_ENST00000305883.1_Missense_Mutation_p.P501Q	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	501					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GCAGAGAGCCCGGGGAGCCCA	0.557000													6	209					0.00307968	0.00697728	0.00307968	1	0
GPR158	57512	broad.mit.edu	37	10	25886961	25886961	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:25886961C>T	ENST00000376351.3	+	11	2765	c.2406C>T	c.(2404-2406)tcC>tcT	p.S802S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	802						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAGGGAAATCCAAGGAGGAGA	0.542000													15	36					0	0	0.00316338	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475055	140475055	+	Silent	SNP	G	G	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:140475055G>T	ENST00000194155.4	+	1	829	c.681G>T	c.(679-681)acG>acT	p.T227T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		227	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCCGGCACGGCCCTGGTAC	0.587000													8	18					1.12685e-05	2.56899e-05	0.000274275	1	0
LRRC4B	94030	broad.mit.edu	37	19	51022166	51022166	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:51022166G>A	ENST00000599957.1	-	3	1001	c.804C>T	c.(802-804)atC>atT	p.I268I	LRRC4B_ENST00000389201.3_Silent_p.I268I			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	268						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGTTGCGCTCGATGGTGGCTA	0.652000													8	37					0	0	0.000274275	0	0
NLK	51701	broad.mit.edu	37	17	26370206	26370206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:26370206C>T	ENST00000407008.3	+	1	1025	c.307C>T	c.(307-309)Cct>Tct	p.P103S	NLK_ENST00000583517.1_3'UTR|NLK_ENST00000582037.1_Missense_Mutation_p.P103S	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	103					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGGGCAGGCTCCTGGACCAGC	0.627000													17	23					0	0	0.00074312	0	0
LRRC16B	90668	broad.mit.edu	37	14	24523608	24523608	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:24523608C>T	ENST00000342740.5	+	5	404	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	84										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCCCCAGATCCTGGTGGAGAC	0.617000													25	44					0	0	0.000878237	0	0
NUAK2	81788	broad.mit.edu	37	1	205272618	205272618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:205272618G>A	ENST00000367157.3	-	7	1973	c.1847C>T	c.(1846-1848)aCc>aTc	p.T616I		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	616					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTGTCGGTAGGTCGCTGTCAC	0.642000													25	27					0	0	0.00332997	0	0
PHRF1	57661	broad.mit.edu	37	11	591394	591394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:591394C>T	ENST00000264555.5	+	5	559	c.431C>T	c.(430-432)tCc>tTc	p.S144F	PHRF1_ENST00000416188.2_Missense_Mutation_p.S144F|PHRF1_ENST00000413872.2_Missense_Mutation_p.S143F|PHRF1_ENST00000533464.1_Missense_Mutation_p.S140F	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	144							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AATGCCAATTCCTGTCCAGTT	0.383000													4	9					0	0	0.000602214	0	0
THSD7B	80731	broad.mit.edu	37	2	137814764	137814764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:137814764C>T	ENST00000409968.1	+	3	1092	c.914C>T	c.(913-915)tCg>tTg	p.S305L	THSD7B_ENST00000543459.1_Missense_Mutation_p.S164L|THSD7B_ENST00000272643.3_Missense_Mutation_p.S305L|THSD7B_ENST00000413152.2_Missense_Mutation_p.S274L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGGCAGGTTTCGTGTACAAGA	0.363000													10	19					0	0	0.000673444	0	0
PIK3CB	5291	broad.mit.edu	37	3	138402620	138402620	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:138402620C>T	ENST00000477593.1	-	17	2398	c.2325G>A	c.(2323-2325)aaG>aaA	p.K775K	PIK3CB_ENST00000544716.1_Silent_p.K221K|PIK3CB_ENST00000289153.2_Silent_p.K775K			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	775					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TGTATTTGCACTTTTCAACAC	0.348000													141	356					0	0	0.00361006	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218228	130218228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:130218228G>A	ENST00000276211.5	+	5	940	c.595G>A	c.(595-597)Gga>Aga	p.G199R	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.G187R|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.G63R	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	199					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCTGGAAGACGGAGCCCTGCT	0.468000													13	6					0	0	0.00316338	0	0
ANO4	121601	broad.mit.edu	37	12	101493382	101493382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:101493382G>A	ENST00000392979.3	+	21	2289	c.1928G>A	c.(1927-1929)aGa>aAa	p.R643K	ANO4_ENST00000392977.3_Missense_Mutation_p.R678K|ANO4_ENST00000299222.9_Missense_Mutation_p.R198K|ANO4_ENST00000550015.1_Missense_Mutation_p.R198K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	678						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGGACTAGAAGAAAAGTACGA	0.363000										HNSCC(74;0.22)			22	42					0	0	0.00188189	0	0
AQP9	366	broad.mit.edu	37	15	58476165	58476165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:58476165G>A	ENST00000219919.4	+	6	1089	c.719G>A	c.(718-720)gGa>gAa	p.G240E	AQP9_ENST00000558772.1_Missense_Mutation_p.G175E|AQP9_ENST00000536493.1_Missense_Mutation_p.G240E|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	240					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTCAGAGCTGGAAACAACTTC	0.433000													34	92					0	0	0.00327116	0	0
OR4N4	283694	broad.mit.edu	37	15	22382691	22382691	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:22382691C>T	ENST00000328795.4	+	1	310	c.219C>T	c.(217-219)taC>taT	p.Y73Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGCATCCTACTCCTTCATTG	0.478000													31	137					0	0	0.00195071	0	0
LGR6	59352	broad.mit.edu	37	1	202245493	202245493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:202245493C>T	ENST00000367278.3	+	5	577	c.488C>T	c.(487-489)tCc>tTc	p.S163F	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Missense_Mutation_p.S111F|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	163						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGCTGTCCTCCCTCCGCCAC	0.632000													14	39					0	0	0.00244969	0	0
ANXA5	308	broad.mit.edu	37	4	122589631	122589631	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:122589631C>A	ENST00000296511.5	-	13	1240	c.955G>T	c.(955-957)Gat>Tat	p.D319Y	ANXA5_ENST00000501272.2_Missense_Mutation_p.D259Y|ANXA5_ENST00000515017.1_Missense_Mutation_p.D219Y	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	319					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						CGTTAGTCATCTTCTCCACAG	0.493000													22	38					1.55469e-16	3.59857e-16	0.00332997	1	0
MYOCD	93649	broad.mit.edu	37	17	12639554	12639554	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:12639554G>A	ENST00000425538.1	+	6	692	c.492G>A	c.(490-492)ccG>ccA	p.P164P	MYOCD_ENST00000395988.1_Silent_p.P68P|MYOCD_ENST00000343344.4_Silent_p.P164P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	164	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.P164P(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGCTTTCTCCGGATCAGACTC	0.547000													50	103					0	0	0.00361006	0	0
ELN	2006	broad.mit.edu	37	7	73471739	73471739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:73471739G>A	ENST00000358929.4	+	22	1476	c.1385G>A	c.(1384-1386)gGg>gAg	p.G462E	ELN_ENST00000380576.5_Intron|ELN_ENST00000414324.1_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000445912.1_Intron			P15502	ELN_HUMAN	elastin	462	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GTGCTGGGTGGGCTAGTGCCA	0.637000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						7	11					0	0	0.00198382	0	0
MUC16	94025	broad.mit.edu	37	19	9014698	9014698	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:9014698C>T	ENST00000397910.4	-	31	38480	c.38277G>A	c.(38275-38277)gaG>gaA	p.E12759E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12761	SEA 5.			Missing (in Ref. 3; AAK74120).	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						CTCCATCCTTCTCGGACCTGA	0.532000													11	25					0	0	0.00400662	0	0
RBP3	5949	broad.mit.edu	37	10	48382189	48382189	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:48382189A>G	ENST00000224600.4	-	4	3573	c.3460T>C	c.(3460-3462)Ttc>Ctc	p.F1154L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1154	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ATATAGGTGAACTCCTCCGCG	0.597000													15	34					0	0	0.00316338	0	0
LILRB1	10859	broad.mit.edu	37	19	55145105	55145105	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:55145105C>T	ENST00000396331.1	+	9	1635	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	LILRB1_ENST00000434867.2_Silent_p.P426P|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000396327.3_Silent_p.P426P|LILRB1_ENST00000396315.1_Silent_p.P426P|LILRB1_ENST00000396332.4_Silent_p.P426P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.P462P|LILRB1_ENST00000448689.1_Silent_p.P426P|LILRB1_ENST00000396321.2_Silent_p.P426P|LILRB1_ENST00000324602.7_Silent_p.P426P|LILRB1_ENST00000418536.2_Intron	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	426					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTGGGGGCCCCAGCTCCCCGA	0.607000										HNSCC(37;0.09)			6	14					0	0	0.00307968	0	0
OR52R1	119695	broad.mit.edu	37	11	4825355	4825355	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:4825355C>G	ENST00000380382.1	-	1	492	c.493G>C	c.(493-495)Gcc>Ccc	p.A165P	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A86P|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGAATATGGCCAACATCTTA	0.512000													18	26					0	0	0.000566183	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067563	11067563	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:11067563G>A	ENST00000287766.4	+	9	1374		c.e9+1		SLC6A1_ENST00000536032.1_Splice_Site	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1						neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ATGTCTACAGGTTTGAGAGGA	0.577000													19	49					0	0	0.00121646	0	0
TRIP12	9320	broad.mit.edu	37	2	230675852	230675852	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:230675852C>T	ENST00000283943.5	-	13	2089	c.1911_splice	c.e13+1	p.E637_splice	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Splice_Site_p.E340_splice|TRIP12_ENST00000389044.4_Splice_Site_p.E685_splice	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	637					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAACACTTACCTCCTCATGCT	0.318000													10	27					0	0	0.000673444	0	0
PTGS2	5743	broad.mit.edu	37	1	186644398	186644398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:186644398G>A	ENST00000367468.5	-	9	1524	c.1388C>T	c.(1387-1389)tCa>tTa	p.S463L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	463					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TTCTTCAAATGATTCATAGGG	0.373000													23	49					0	0	0.00278032	0	0
CRADD	8738	broad.mit.edu	37	12	94243948	94243948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:94243948G>A	ENST00000542893.2	+	3	819	c.501G>A	c.(499-501)tgG>tgA	p.W167*	CRADD_ENST00000332896.3_Nonsense_Mutation_p.W167*|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	167	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TCATCCGTTGGCGGCAGCGCT	0.632000													20	44					0	0	0.00152264	0	0
YTHDC2	64848	broad.mit.edu	37	5	112917322	112917322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:112917322C>T	ENST00000161863.4	+	25	3776	c.3563C>T	c.(3562-3564)cCt>cTt	p.P1188L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1188							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GAAGAGCTTCCTTTGGCCTCA	0.403000													8	15					0	0	0.000274275	0	0
ZNF578	147660	broad.mit.edu	37	19	53014536	53014536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:53014536C>T	ENST00000421239.2	+	6	1146	c.902C>T	c.(901-903)tCc>tTc	p.S301F	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TACAAGTCATCCCTGACATGC	0.418000													20	60					0	0	0.000958276	0	0
MARCO	8685	broad.mit.edu	37	2	119732103	119732103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:119732103C>T	ENST00000541757.1	+	7	721	c.341C>T	c.(340-342)tCg>tTg	p.S114L	MARCO_ENST00000327097.4_Missense_Mutation_p.S192L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	192					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.S192W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCAGGCCCCTCGGGACCCCAA	0.537000													11	29					0	0	0.000566183	0	0
RORC	6097	broad.mit.edu	37	1	151787564	151787564	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:151787564C>T	ENST00000356728.6	-	4	727	c.573G>A	c.(571-573)gaG>gaA	p.E191E	RORC_ENST00000392697.3_Silent_p.E266E|RORC_ENST00000318247.6_Silent_p.E212E	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	212	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCTCTGCCCTCAGCCTTGC	0.592000													9	24					0	0	0.000673444	0	0
COL11A1	1301	broad.mit.edu	37	1	103453251	103453251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:103453251C>T	ENST00000358392.2	-	30	2793	c.2476G>A	c.(2476-2478)Gga>Aga	p.G826R	COL11A1_ENST00000353414.4_Missense_Mutation_p.G775R|COL11A1_ENST00000370096.3_Missense_Mutation_p.G814R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G698R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	814	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)		CCTTTGGGTCCTTCAGGGCCA	0.468000													21	57					0	0	0.00188189	0	0
DPRX	503834	broad.mit.edu	37	19	54137815	54137815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:54137815G>A	ENST00000376650.1	+	2	110	c.59G>A	c.(58-60)cGa>cAa	p.R20Q		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACAGGAAACGAACCATGTTC	0.433000													25	44					0	0	0.00395357	0	0
MTMR11	10903	broad.mit.edu	37	1	149902774	149902774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:149902774G>A	ENST00000361405.6	-	8	1017	c.767C>T	c.(766-768)tCc>tTc	p.S256F	MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Silent_p.F386F|MTMR11_ENST00000439741.2_Silent_p.F458F			A4FU01	MTMRB_HUMAN	myotubularin related protein 11	0	Myotubularin phosphatase.						phosphatase activity	p.F386F(1)|p.F458F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GAGCAAGAAGGAAAAACTCAG	0.493000													16	34					0	0	0.00400662	0	0
LRP1B	53353	broad.mit.edu	37	2	141473590	141473590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:141473590G>A	ENST00000389484.3	-	37	6946	c.5975C>T	c.(5974-5976)tCc>tTc	p.S1992F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1992					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGGCCTTGGGAAATAATTAC	0.353000										TSP Lung(27;0.18)			17	46					0	0	0.00400662	0	0
GAB4	128954	broad.mit.edu	37	22	17443709	17443709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:17443709C>T	ENST00000400588.1	-	10	1746	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	547										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGGTCTTCTCCAGATCCACC	0.602000													11	24					0	0	0.000673444	0	0
REPIN1	29803	broad.mit.edu	37	7	150069663	150069663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:150069663C>T	ENST00000397281.2	+	4	1822	c.1333C>T	c.(1333-1335)Cat>Tat	p.H445Y	REPIN1_ENST00000540729.1_Missense_Mutation_p.H445Y|REPIN1_ENST00000425389.2_Missense_Mutation_p.H445Y|REPIN1_ENST00000444957.1_Missense_Mutation_p.H445Y|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Missense_Mutation_p.H502Y	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	445					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCAGGGCAGCCATCTGGCGGC	0.726000													6	5					0	0	0.00307968	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324516	61324516	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:61324516A>C	ENST00000283752.5	-	6	743	c.600T>G	c.(598-600)ttT>ttG	p.F200L	SERPINB3_ENST00000332821.8_Missense_Mutation_p.F200L|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	200					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTTTGGCCAAAATTTTTCCT	0.279000													6	30					0	0	0.00116845	0	0
CMIP	80790	broad.mit.edu	37	16	81735267	81735267	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:81735267C>T	ENST00000537098.3	+	16	1830	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.I433I|CMIP_ENST00000539778.2_Silent_p.I492I	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	552						cytoplasm|nucleus		p.I586I(1)|p.I491I(1)		endometrium(5)|kidney(1)|lung(7)	13						CTGGACAGATCCTGTGCTTGA	0.557000													59	98					0	0	0.00361006	0	0
ZNF394	84124	broad.mit.edu	37	7	99091875	99091875	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:99091875G>A	ENST00000337673.6	-	3	1166	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	321					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCACCATGTGGAAACTTTGCT	0.517000													30	37					0	0	0.0024448	0	0
TPTE	7179	broad.mit.edu	37	21	10951345	10951345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:10951345G>A	ENST00000298232.7	-	9	680	c.313C>T	c.(313-315)Cct>Tct	p.P105S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.P85S|TPTE_ENST00000361285.4_Missense_Mutation_p.P123S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	123					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TACTCCAAAGGAATATAAAGT	0.323000													17	114					0	0	0.00121646	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19713794	19713794	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:19713794C>T	ENST00000284885.3	-	13	1533	c.1500G>A	c.(1498-1500)ggG>ggA	p.G500G		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	500	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.G500G(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CATTGCAAATCCCATATGTTA	0.378000													23	38					0	0	0.00229938	0	0
SLC7A6	9057	broad.mit.edu	37	16	68328619	68328619	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:68328619T>A	ENST00000566454.1	+	9	1303	c.1034T>A	c.(1033-1035)gTg>gAg	p.V345E	SLC7A6_ENST00000219343.6_Missense_Mutation_p.V345E	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	345					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TTGTTCTTCGTGGGCTCCCGG	0.498000													58	111					0	0	0.00361006	0	0
TTN	7273	broad.mit.edu	37	2	179542444	179542444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179542444G>A	ENST00000589042.1	-	146	34419	c.34195C>T	c.(34195-34197)Cct>Tct	p.P11399S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10155S|TTN_ENST00000591111.1_Missense_Mutation_p.P11082S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11082	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)			TCTTCGGGAGGAACTTCCTCT	0.448000													28	55					0	0	0.00127121	0	0
KCNA6	3742	broad.mit.edu	37	12	4920426	4920426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:4920426C>T	ENST00000433855.1	+	1	2085	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	KCNA6_ENST00000280684.3_Missense_Mutation_p.P407S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	407						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TTCGCTTTTTCCCAGCATCCC	0.572000										HNSCC(72;0.22)			20	61					0	0	0.00278032	0	0
AC096579.13	0	broad.mit.edu	37	2	89160296	89160296	+	RNA	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:89160296G>A	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							CTTTTTGAAAGAATCTGGTAC	0.358000													5	18					0	0	0.000602214	0	0
TP63	8626	broad.mit.edu	37	3	189456456	189456456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:189456456G>A	ENST00000264731.3	+	3	306	c.217G>A	c.(217-219)Gac>Aac	p.D73N	TP63_ENST00000392460.3_Missense_Mutation_p.D73N|TP63_ENST00000320472.5_Missense_Mutation_p.D73N|TP63_ENST00000440651.2_Missense_Mutation_p.D73N|TP63_ENST00000418709.2_Missense_Mutation_p.D73N|TP63_ENST00000382063.4_Missense_Mutation_p.D73N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	73	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCAGCCCATTGACTTGAACTT	0.428000										HNSCC(45;0.13)			28	61					0	0	0.00178596	0	0
FABP2	2169	broad.mit.edu	37	4	120243201	120243201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:120243201C>T	ENST00000274024.3	-	1	344	c.57G>A	c.(55-57)atG>atA	p.M19I		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	19							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						CCATTTTTTCCATGAACTTGT	0.388000													45	72					0	0	0.00361006	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672117	77672117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:77672117G>A	ENST00000407578.2	-	56	9438	c.9172C>T	c.(9172-9174)Cat>Tat	p.H3058Y	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H3020Y|MYCBP2_ENST00000544440.2_Missense_Mutation_p.H3020Y	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3020					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGTTCAGGATGAAACTTTAGG	0.398000													24	30					0	0	0.00395357	0	0
KIAA1715	80856	broad.mit.edu	37	2	176856982	176856982	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:176856982G>A	ENST00000272748.4	-	4	481	c.234C>T	c.(232-234)ctC>ctT	p.L78L	KIAA1715_ENST00000544803.1_Silent_p.L78L|KIAA1715_ENST00000535310.1_Silent_p.L3L	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	78						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CAAAAAATGGGAGTGTCATGG	0.303000													5	25					0	0	0.00116845	0	0
DGKK	139189	broad.mit.edu	37	X	50163489	50163489	+	RNA	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:50163489C>T	ENST00000376025.2	-	0	913							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGTGATTTTTCGTTGTGGTGT	0.383000													39	17					0	0	0.0025221	0	0
COL3A1	1281	broad.mit.edu	37	2	189859281	189859281	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:189859281G>A	ENST00000304636.3	+	19	1478	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	COL3A1_ENST00000317840.5_Silent_p.K436K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	436	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGCCTGGTAAGAATGGTGCCA	0.393000													19	36					0	0	0.00332997	0	0
CCKAR	886	broad.mit.edu	37	4	26483532	26483532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:26483532C>T	ENST00000295589.3	-	5	1209	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	339					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GAGGCGGTGTCGTAGGCCCGC	0.597000													12	28					0	0	0.00136819	0	0
CNR1	1268	broad.mit.edu	37	6	88853983	88853983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:88853983C>T	ENST00000537554.1	-	2	4573	c.1011G>A	c.(1009-1011)atG>atA	p.M337I	CNR1_ENST00000369499.2_Missense_Mutation_p.M337I|CNR1_ENST00000549716.1_Missense_Mutation_p.M276I|CNR1_ENST00000369501.2_Missense_Mutation_p.M337I|CNR1_ENST00000428600.2_Missense_Mutation_p.M337I|CNR1_ENST00000535130.1_Missense_Mutation_p.M337I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.M304I|CNR1_ENST00000549890.1_Missense_Mutation_p.M337I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	337					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.M337I(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACCTAATGTCCATGCGGGCTT	0.557000													23	57					0	0	0.00106085	0	0
GRM7	2917	broad.mit.edu	37	3	7348240	7348240	+	Missense_Mutation	SNP	G	G	A	rs140116291		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:7348240G>A	ENST00000486284.1	+	4	1208	c.934G>A	c.(934-936)Gga>Aga	p.G312R	GRM7_ENST00000403881.1_Missense_Mutation_p.G312R|GRM7_ENST00000402647.2_Missense_Mutation_p.G312R|GRM7_ENST00000389336.4_Missense_Mutation_p.G312R|GRM7_ENST00000357716.4_Missense_Mutation_p.G312R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	312					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCTTTGGGTGGGATCAGACAG	0.483000													35	54					0	0	0.00375469	0	0
NMD3	51068	broad.mit.edu	37	3	160952972	160952972	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:160952972G>A	ENST00000460469.1	+	6	1004	c.549G>A	c.(547-549)caG>caA	p.Q183Q	NMD3_ENST00000472947.1_Silent_p.Q183Q|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Silent_p.Q183Q			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	183					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GAATGCATCAGAATACACTTC	0.269000													30	34					0	0	0.0024448	0	0
C1orf168	199920	broad.mit.edu	37	1	57257927	57257927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:57257927C>T	ENST00000343433.6	-	2	639	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	187										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCTTTTGTTTCCAGCTTTTTC	0.483000													31	66					0	0	0.00209593	0	0
C3orf30	152405	broad.mit.edu	37	3	118865837	118865837	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:118865837G>A	ENST00000295622.1	+	1	841	c.801G>A	c.(799-801)agG>agA	p.R267R		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	267										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GGAAAGTTAGGAGAAGAAGTT	0.498000													15	69					0	0	0.000566183	0	0
PPP4R4	57718	broad.mit.edu	37	14	94718218	94718218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:94718218C>T	ENST00000304338.3	+	16	2004	c.1850C>T	c.(1849-1851)cCa>cTa	p.P617L		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	617						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ACACATGATCCAGTAGCAAAT	0.284000													14	36					0	0	0.00400662	0	0
SAMD4B	55095	broad.mit.edu	37	19	39847698	39847698	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:39847698C>T	ENST00000314471.6	+	5	1200	c.165C>T	c.(163-165)atC>atT	p.I55I	SAMD4B_ENST00000596368.1_Silent_p.I55I|SAMD4B_ENST00000598913.1_Silent_p.I55I|SAMD4B_ENST00000594204.1_3'UTR	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	55							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCAATGACATCCACCTGCTGG	0.592000													6	11					0	0	0.00307968	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81070875	81070875	+	Silent	SNP	C	C	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:81070875C>A	ENST00000334512.5	+	24	3602	c.3030C>A	c.(3028-3030)ccC>ccA	p.P1010P	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1010					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTTTAACCCCTCCTCAGCCT	0.672000													7	170					0.00307968	0.00697728	0.00307968	1	0
SAMD9L	219285	broad.mit.edu	37	7	92761312	92761312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:92761312C>T	ENST00000318238.4	-	5	5189	c.3973G>A	c.(3973-3975)Gag>Aag	p.E1325K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1325K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1325K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1325										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAATTCTCCTCCTGGAGTAAT	0.393000													20	24					0	0	0.000958276	0	0
DSCAM	1826	broad.mit.edu	37	21	41559882	41559882	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:41559882G>A	ENST00000400454.1	-	13	3063	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	862	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCAGGAAAAGAAACCAGAAT	0.403000													14	32					0	0	0.000566183	0	0
AP4E1	23431	broad.mit.edu	37	15	51260513	51260513	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:51260513G>A	ENST00000261842.5	+	15	2011	c.1905G>A	c.(1903-1905)caG>caA	p.Q635Q	AP4E1_ENST00000560508.1_Silent_p.Q560Q	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	635					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GACTCAGTCAGGGTGCAGCGC	0.373000													6	11					0	0	0.00307968	0	0
MDK	4192	broad.mit.edu	37	11	46405032	46405032	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:46405032G>A	ENST00000405308.2	+	5	849	c.420G>A	c.(418-420)aaG>aaA	p.K140K	MDK_ENST00000533283.1_3'UTR|MDK_ENST00000395565.1_Silent_p.K140K|MDK_ENST00000359803.3_Silent_p.K140K|MDK_ENST00000395569.4_Silent_p.K84K|MDK_ENST00000407067.1_Silent_p.K140K|MDK_ENST00000395566.4_Silent_p.K140K	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	140					adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		AGAAAGGGAAGGGAAAGGACT	0.572000											OREG0020943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	44					0	0	0.00136819	0	0
THRB	7068	broad.mit.edu	37	3	24185134	24185134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:24185134C>T	ENST00000396671.2	-	8	944	c.596G>A	c.(595-597)aGa>aAa	p.R199K	THRB_ENST00000280696.5_Missense_Mutation_p.R214K|THRB_ENST00000416420.1_Missense_Mutation_p.R199K|THRB_ENST00000356447.4_Missense_Mutation_p.R199K	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	199					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCCCGCCGTCTTTTCTCCCG	0.572000													23	69					0	0	0.00395357	0	0
FMN2	56776	broad.mit.edu	37	1	240256867	240256867	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:240256867G>A	ENST00000319653.9	+	1	1688	c.1458G>A	c.(1456-1458)acG>acA	p.T486T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	486					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTGACTGGACGGAGGAGCTAG	0.761000													4	7					0	0	0.00024832	0	0
ADAM7	8756	broad.mit.edu	37	8	24304772	24304772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:24304772C>T	ENST00000175238.6	+	3	313	c.230C>T	c.(229-231)tCc>tTc	p.S77F	ADAM7_ENST00000380789.1_Missense_Mutation_p.S77F|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.S77F	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	77					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTTCTAAGATCCAGGTAAGTT	0.318000													16	23					0	0	0.00400662	0	0
DAB2IP	153090	broad.mit.edu	37	9	124530806	124530806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:124530806C>T	ENST00000408936.3	+	10	1975	c.1793C>T	c.(1792-1794)cCc>cTc	p.P598L	DAB2IP_ENST00000309989.1_Missense_Mutation_p.P474L|DAB2IP_ENST00000259371.2_Missense_Mutation_p.P570L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	598					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						ATCTCCAACCCCGAGACCCTC	0.587000													26	20					0	0	0.00395357	0	0
TCEB3	6924	broad.mit.edu	37	1	24077804	24077804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:24077804G>A	ENST00000418390.2	+	4	1058	c.787G>A	c.(787-789)Ggg>Agg	p.G263R		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	263					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCATGGGAAAGGGGTTGTGAG	0.542000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	36					0	0	0.00152264	0	0
DHCR7	1717	broad.mit.edu	37	11	71146749	71146749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:71146749C>T	ENST00000355527.3	-	9	1376	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	DHCR7_ENST00000407721.2_Missense_Mutation_p.R367H	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	367					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GATGAGGCAGCGCCCATCCGT	0.662000									Smith-Lemli-Opitz syndrome				10	33					0	0	0.000673444	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409662	22409662	+	RNA	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:22409662C>T	ENST00000390441.2	+	0	208																											GGATACCCTTCCCTTTTCTGG	0.502000													13	25					0	0	0.00185496	0	0
ZNF214	7761	broad.mit.edu	37	11	7021941	7021941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:7021941G>A	ENST00000278314.4	-	3	1288	c.973C>T	c.(973-975)Cac>Tac	p.H325Y	ZNF214_ENST00000536068.1_Missense_Mutation_p.H325Y	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTTCTGTGTGGACTCTTTGA	0.393000													25	47					0	0	0.00127121	0	0
GPR112	139378	broad.mit.edu	37	X	135469928	135469928	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:135469928G>A	ENST00000394143.1	+	16	8097	c.7806G>A	c.(7804-7806)ggG>ggA	p.G2602G	GPR112_ENST00000412101.1_Silent_p.G2397G|GPR112_ENST00000394141.1_Silent_p.G2397G|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Silent_p.G2602G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2602					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGTGGGAGGGATTTTGGCTT	0.413000													47	14					0	0	0.00361006	0	0
FBXO40	51725	broad.mit.edu	37	3	121340479	121340479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:121340479C>T	ENST00000338040.4	+	3	617	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	68					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TGCCTCAACTCCGAATATGGC	0.602000													17	70					0	0	0.000958276	0	0
ENPP3	5169	broad.mit.edu	37	6	132014660	132014660	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:132014660C>G	ENST00000414305.1	+	16	1636	c.1308C>G	c.(1306-1308)ttC>ttG	p.F436L	ENPP3_ENST00000357639.3_Missense_Mutation_p.F436L|ENPP3_ENST00000358229.5_Missense_Mutation_p.F436L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	436	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATCAGCATTTCAAGCCCTATT	0.373000													22	44					0	0	0.000720815	0	0
GPR113	165082	broad.mit.edu	37	2	26534871	26534871	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:26534871C>T	ENST00000333478.6	-	8	1710	c.1128G>A	c.(1126-1128)cgG>cgA	p.R376R	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.R506R|GPR113_ENST00000541401.1_Silent_p.R178R|GPR113_ENST00000311519.1_Silent_p.R575R	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	575					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAGGGCTTCCGGGCTTGGG	0.597000													19	65					0	0	0.000958276	0	0
ATF7IP	55729	broad.mit.edu	37	12	14610217	14610217	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:14610217C>G	ENST00000544627.1	+	8	2490	c.2170C>G	c.(2170-2172)Cct>Gct	p.P724A	ATF7IP_ENST00000536444.1_Missense_Mutation_p.P715A|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P716A|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P715A|ATF7IP_ENST00000541654.1_Intron|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P716A			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	716	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTTTCAAACTCCTGTGAATAC	0.353000													5	18					0	0	0.00116845	0	0
RBKS	64080	broad.mit.edu	37	2	28055587	28055587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:28055587G>A	ENST00000302188.3	-	6	1324	c.572C>T	c.(571-573)aCc>aTc	p.T191I	RBKS_ENST00000444339.2_Missense_Mutation_p.T191I	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	191					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ATCTGAGAGGGTGTAGAACTG	0.413000													27	64					0	0	0.00127121	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099569	142099569	+	RNA	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:142099569C>T	ENST00000390359.3	-	0	271																											ACTGGGCAGCCCCGATTTGTC	0.532000													20	35					0	0	0.00121646	0	0
TRPV5	56302	broad.mit.edu	37	7	142630471	142630471	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:142630471C>T	ENST00000265310.1	-	1	434	c.86G>A	c.(85-87)tGg>tAg	p.W29*	TRPV5_ENST00000442623.1_Nonsense_Mutation_p.W29*	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	29					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTGCTGGTCCCAGTCTTGTTC	0.567000													32	49					0	0	0.00209593	0	0
DSPP	1834	broad.mit.edu	37	4	88533324	88533324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:88533324C>T	ENST00000399271.1	+	3	239	c.119C>T	c.(118-120)tCa>tTa	p.S40L	DSPP_ENST00000282478.7_Missense_Mutation_p.S40L|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	40					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.S40*(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CTAGCAAGATCAAATGTGTCA	0.358000													11	15					0	0	0.000978159	0	0
PSG1	5669	broad.mit.edu	37	19	43373113	43373113	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:43373113G>A	ENST00000244296.2	-	4	920	c.783C>T	c.(781-783)acC>acT	p.T261T	PSG1_ENST00000403380.3_Silent_p.T168T|PSG1_ENST00000312439.6_Silent_p.T261T|PSG1_ENST00000436291.2_Silent_p.T261T|PSG1_ENST00000595356.1_Silent_p.T261T|PSG1_ENST00000595124.1_Silent_p.T168T	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TAGGTTCACAGGTGAAGTTTA	0.478000													52	104					0	0	0.00361006	0	0
TIE1	7075	broad.mit.edu	37	1	43779520	43779520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:43779520G>A	ENST00000372476.3	+	14	2369	c.2290G>A	c.(2290-2292)Gcg>Acg	p.A764T	TIE1_ENST00000433781.2_Missense_Mutation_p.A409T|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	764					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTGATCCTGGCGGTGGTGGG	0.637000													16	32					0	0	0.00400662	0	0
FRMPD2	143162	broad.mit.edu	37	10	49457125	49457125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:49457125G>A	ENST00000374201.3	-	3	550	c.248C>T	c.(247-249)cCt>cTt	p.P83L	FRMPD2_ENST00000305531.3_Missense_Mutation_p.P81L|FRMPD2_ENST00000407470.4_Missense_Mutation_p.P74L	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	83	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGCCTTGAAAGGAGCAGCCTC	0.532000													10	19					0	0	0.000673444	0	0
PARN	5073	broad.mit.edu	37	16	14676080	14676080	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:14676080A>G	ENST00000437198.2	-	17	1291	c.1150T>C	c.(1150-1152)Tac>Cac	p.Y384H	PARN_ENST00000539279.1_Missense_Mutation_p.Y209H|PARN_ENST00000420015.2_Missense_Mutation_p.Y338H|PARN_ENST00000341484.7_Missense_Mutation_p.Y323H	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	384					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CCTGTGATGTAGGCATCGTAG	0.448000													57	116					0	0	0.00361006	0	0
ADORA3	140	broad.mit.edu	37	1	112042915	112042915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:112042915C>T	ENST00000241356.4	-	2	1019	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	205					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GAGTTTGTTCCGAATGATGTA	0.428000													12	33					0	0	0.00185496	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407230	62407230	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:62407230G>A	ENST00000245663.4	-	3	1173	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	ZBTB46_ENST00000395104.1_Silent_p.L341L|ZBTB46_ENST00000302995.2_Silent_p.L341L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTCCTCCCAGGAGACCCTCCT	0.677000													14	33					0	0	0.00185496	0	0
ERP27	121506	broad.mit.edu	37	12	15090942	15090942	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:15090942G>A	ENST00000266397.2	-	2	712	c.139C>T	c.(139-141)Cca>Tca	p.P47S		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	47	Thioredoxin.					endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ATGGCAGCTGGGACATCTGTG	0.517000													32	67					0	0	0.00428921	0	0
BRPF3	27154	broad.mit.edu	37	6	36168457	36168457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:36168457C>T	ENST00000357641.6	+	2	611	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	BRPF3_ENST00000339717.7_Missense_Mutation_p.R120C|BRPF3_ENST00000534400.1_Missense_Mutation_p.R120C|BRPF3_ENST00000543502.1_Missense_Mutation_p.R120C|BRPF3_ENST00000443324.2_Missense_Mutation_p.R120C|BRPF3_ENST00000534694.1_Missense_Mutation_p.R120C	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	120					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCCCAGCTTCCGTATGGTGGA	0.562000													19	59					0	0	0.00121646	0	0
HHIP	64399	broad.mit.edu	37	4	145636561	145636561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:145636561G>A	ENST00000296575.3	+	10	2312	c.1657G>A	c.(1657-1659)Gga>Aga	p.G553R		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	553						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCACATCTTGGGATTTGGAGA	0.433000													20	42					0	0	0.00188189	0	0
TTN	7273	broad.mit.edu	37	2	179639084	179639084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179639084C>T	ENST00000589042.1	-	30	7131	c.6907G>A	c.(6907-6909)Gat>Aat	p.D2303N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D2257N|TTN_ENST00000359218.5_Missense_Mutation_p.D2257N|TTN_ENST00000342175.6_Missense_Mutation_p.D2257N|TTN_ENST00000342992.6_Missense_Mutation_p.D2303N|TTN_ENST00000360870.5_Missense_Mutation_p.D2303N|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D2303N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2015	Ig-like 12.						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)			AGCTCCACATCATTATGATAC	0.398000													17	65					0	0	0.00074312	0	0
FBXL19	54620	broad.mit.edu	37	16	30941595	30941595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:30941595C>T	ENST00000338343.4	+	7	1378	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	FBXL19_ENST00000562319.1_Missense_Mutation_p.R331W|FBXL19_ENST00000471231.2_Missense_Mutation_p.R39W|FBXL19_ENST00000565690.1_Missense_Mutation_p.R215W|FBXL19_ENST00000380310.2_Missense_Mutation_p.R351W			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	351	Ser-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CGGCGAGGCCCGGAATGGGCG	0.706000													7	15					0	0	0.00307968	0	0
CCDC33	80125	broad.mit.edu	37	15	74623056	74623056	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:74623056G>A	ENST00000321288.5	+	15	2118	c.2118G>A	c.(2116-2118)agG>agA	p.R706R	CCDC33_ENST00000558821.1_Silent_p.R96R|CCDC33_ENST00000268082.4_Silent_p.R96R|CCDC33_ENST00000398814.3_Silent_p.R503R			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	706							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGAAACTGAGGGACAGGGTGC	0.582000													14	29					0	0	0.00316338	0	0
GPC5	2262	broad.mit.edu	37	13	93518546	93518546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:93518546G>A	ENST00000377067.3	+	8	1945	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	525						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATGCCAGATGATATGAACTT	0.433000													13	29					0	0	0.00316338	0	0
VIP	7432	broad.mit.edu	37	6	153073340	153073340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:153073340C>T	ENST00000367244.3	+	2	200	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	VIP_ENST00000367243.3_Missense_Mutation_p.L10F	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	10					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GGCCCAGCTCCTTGTGCTCCT	0.478000													14	31					0	0	0.00244969	0	0
AP3B1	8546	broad.mit.edu	37	5	77412018	77412018	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:77412018T>C	ENST00000255194.6	-	18	2184	c.2009A>G	c.(2008-2010)aAt>aGt	p.N670S	AP3B1_ENST00000519295.1_Missense_Mutation_p.N621S	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	670					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTTAGCAGAATTCTCTTGCTT	0.348000									Hermansky-Pudlak syndrome				20	40					0	0	0.00152264	0	0
FBXO6	26270	broad.mit.edu	37	1	11731999	11731999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:11731999C>T	ENST00000376753.4	+	4	563	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	143	FBA.			SQ -> WE (in Ref. 1; AAF04470).	DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTCAAGTCCCAGCTGGTG	0.627000													4	18					0	0	0.00024832	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75552441	75552441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:75552441C>T	ENST00000604729.1	+	10	2441	c.2144C>T	c.(2143-2145)aCc>aTc	p.T715I	ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.T715I|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.T715I|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.T715I|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.T682I					zinc finger, SWIM-type containing 8																		CTTCCCAAAACCAAAGAGGCA	0.602000													5	35					0	0	0.000602214	0	0
MYLK	4638	broad.mit.edu	37	3	123367818	123367818	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:123367818G>A	ENST00000360772.3	-	27	4793	c.4415_splice	c.e27+1	p.S1472_splice	MYLK_ENST00000360304.3_Splice_Site_p.S1472_splice|MYLK_ENST00000359169.1_Splice_Site_p.S1472_splice|MYLK_ENST00000354792.5_Splice_Site_p.S272_splice|MYLK_ENST00000346322.5_Splice_Site_p.S1403_splice|MYLK_ENST00000475616.1_Splice_Site_p.S1472_splice			Q15746	MYLK_HUMAN	myosin light chain kinase	1472	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.S1472Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCCACTTACGATCCTAATCT	0.527000													22	48					0	0	0.00395357	0	0
DSC1	1823	broad.mit.edu	37	18	28711671	28711671	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:28711671G>A	ENST00000257197.3	-	15	2634	c.2373C>T	c.(2371-2373)tcC>tcT	p.S791S	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.S791S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	791					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTCCTTTGTTGGAATCCAAAG	0.498000													49	91					0	0	0.00361006	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555341	44555341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:44555341C>T	ENST00000330682.2	-	1	1108	c.873G>A	c.(871-873)atG>atA	p.M291I	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CCTGGGAGGTCATGGCCTCAA	0.617000													10	270					0	0	0.00185496	0	0
QARS	5859	broad.mit.edu	37	3	49139286	49139286	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:49139286C>T	ENST00000306125.6	-	8	1015	c.678G>A	c.(676-678)ggG>ggA	p.G226G	QARS_ENST00000414533.1_Silent_p.G215G|QARS_ENST00000470225.1_5'UTR|QARS_ENST00000420147.2_Silent_p.G244G			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	226					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TAAGGGCCTCCCCCCGGAGCT	0.552000													6	8					0	0	0.00116845	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48897015	48897015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:48897015G>A	ENST00000394754.1	+	9	3359	c.3245G>A	c.(3244-3246)gGg>gAg	p.G1082E	GTF2A1L_ENST00000403751.3_Missense_Mutation_p.G378E|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.G344E|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G1082E|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G1082E|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G1035E|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G1082E	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1035					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATATTGACGGGGGAGATCTG	0.383000													16	29					0	0	0.00316338	0	0
TNP2	7142	broad.mit.edu	37	16	11361865	11361865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:11361865C>T	ENST00000312693.3	-	2	474	c.405G>A	c.(403-405)tgG>tgA	p.W135*	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	135					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGTTGGATTTCCATCCTAAGG	0.443000													6	15					0	0	0.000274275	0	0
ATP13A4	84239	broad.mit.edu	37	3	193175233	193175233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:193175233C>T	ENST00000342695.4	-	15	2018	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	ATP13A4_ENST00000392443.3_Missense_Mutation_p.D547N	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	566					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.D566N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGTGGAAATCGTCCCCAGAA	0.478000													30	100					0	0	0.00178596	0	0
TRAV40	28641	broad.mit.edu	37	14	22783182	22783182	+	RNA	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:22783182C>T	ENST00000390467.3	+	0	148																											GTACCCTACCCTTTTCTGGTA	0.478000													17	11					0	0	0.00152264	0	0
OR11L1	391189	broad.mit.edu	37	1	248004498	248004498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:248004498C>T	ENST00000355784.2	-	1	756	c.701G>A	c.(700-702)cGg>cAg	p.R234Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234Q(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTCTTTCTCCGGCCAGAGGT	0.502000													16	30					0	0	0.00316338	0	0
FAT3	120114	broad.mit.edu	37	11	92525957	92525957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:92525957C>T	ENST00000298047.6	+	8	4653	c.4636C>T	c.(4636-4638)Cga>Tga	p.R1546*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.R1546*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R1396*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1546	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTTCCTTATCGAAGAAACTT	0.418000										TCGA Ovarian(4;0.039)			123	315					0	0	0.00361006	0	0
CHD5	26038	broad.mit.edu	37	1	6206355	6206355	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:6206355G>A	ENST00000262450.3	-	11	1818	c.1719C>T	c.(1717-1719)ccC>ccT	p.P573P	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	573					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCATAGAGGGGGTCCTTGT	0.547000													33	58					0	0	0.00327116	0	0
ABLIM2	84448	broad.mit.edu	37	4	8098853	8098853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:8098853G>A	ENST00000296372.8	-	3	453	c.311C>T	c.(310-312)cCc>cTc	p.P104L	ABLIM2_ENST00000447017.2_Missense_Mutation_p.P104L|ABLIM2_ENST00000361581.5_Missense_Mutation_p.P104L|ABLIM2_ENST00000428004.2_Missense_Mutation_p.P104L|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000545242.1_Missense_Mutation_p.P104L|ABLIM2_ENST00000407564.3_Missense_Mutation_p.P104L|ABLIM2_ENST00000341937.5_Missense_Mutation_p.P104L|ABLIM2_ENST00000505872.1_Missense_Mutation_p.P104L|ABLIM2_ENST00000546334.1_Missense_Mutation_p.P104L|ABLIM2_ENST00000361737.5_Missense_Mutation_p.P104L			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	104	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GAAGCAGTCGGGGTGGTAGGT	0.637000													3	7					0	0	0.00024832	0	0
NPHP3	27031	broad.mit.edu	37	3	132440868	132440868	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:132440868G>C	ENST00000326682.8	-	1	408	c.332C>G	c.(331-333)tCc>tGc	p.S111C	NPHP3_ENST00000383282.2_Missense_Mutation_p.S111C|NPHP3_ENST00000337331.5_Missense_Mutation_p.S111C|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000343113.4_Missense_Mutation_p.S111C			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	111					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCGGCCCATGGACAACAACTC	0.672000													40	14					0	0	0.00361006	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938752	2938752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:2938752C>T	ENST00000378404.2	+	1	707	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	168						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTGCACTGTCCCCATCTTTGA	0.657000													12	30					0	0	0.00185496	0	0
TRIM51	84767	broad.mit.edu	37	11	55655529	55655529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:55655529G>A	ENST00000449290.2	+	4	621	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	TRIM51_ENST00000244891.3_Missense_Mutation_p.E34K	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	177						intracellular	zinc ion binding										TTTAAGGATAGAAGCAATCAG	0.388000													11	15					0	0	0.00136819	0	0
NARS2	79731	broad.mit.edu	37	11	78147748	78147748	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:78147748A>G	ENST00000281038.5	-	14	1777	c.1402T>C	c.(1402-1404)Ttc>Ctc	p.F468L	RP11-452H21.1_ENST00000534168.1_RNA|NARS2_ENST00000528850.1_Missense_Mutation_p.F241L	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	468					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	AACCTTGGGAAAGGGATAACA	0.463000													63	138					0	0	0.00361006	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138413516	138413516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:138413516C>T	ENST00000310018.2	-	18	2282	c.2000G>A	c.(1999-2001)cGg>cAg	p.R667Q	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.R667Q|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.R667Q	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	667					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTGGGATTTCCGATGACTGGC	0.433000													66	135					0	0	0.00361006	0	0
CCDC80	151887	broad.mit.edu	37	3	112357285	112357285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:112357285C>T	ENST00000206423.3	-	2	2421	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	CCDC80_ENST00000439685.2_Missense_Mutation_p.E490K	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	490	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGAGGTTTCTCCTTTGCTGGC	0.572000													33	75					0	0	0.00283554	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802814	124802814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:124802814C>T	ENST00000423114.2	-	14	2151	c.2152G>A	c.(2152-2154)Gag>Aag	p.E718K	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E350K|SLC12A8_ENST00000393469.4_Missense_Mutation_p.E689K|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E689K|SLC12A8_ENST00000430155.2_Missense_Mutation_p.E490K			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	689					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TCTGCATTCTCCTGGGTGAGC	0.592000													7	16					0	0	0.00307968	0	0
TTN	7273	broad.mit.edu	37	2	179641514	179641514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179641514C>T	ENST00000589042.1	-	28	5301	c.5077G>A	c.(5077-5079)Gat>Aat	p.D1693N	TTN_ENST00000460472.2_Missense_Mutation_p.D1647N|TTN_ENST00000359218.5_Missense_Mutation_p.D1647N|TTN_ENST00000342175.6_Missense_Mutation_p.D1647N|TTN_ENST00000342992.6_Missense_Mutation_p.D1693N|TTN_ENST00000360870.5_Missense_Mutation_p.D1693N|TTN_ENST00000591111.1_Missense_Mutation_p.D1693N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1447							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)			TCATAGAGATCACCTTCTTCC	0.463000													17	42					0	0	0.000958276	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926624	157926624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:157926624G>A	ENST00000389413.3	-	9	1404	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	PTPRN2_ENST00000404321.2_Missense_Mutation_p.S457F|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S417F|PTPRN2_ENST00000389418.4_Missense_Mutation_p.S434F|PTPRN2_ENST00000409483.1_Missense_Mutation_p.S396F	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	434						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGAAGACAGGGAAGACTCAGG	0.617000													30	58					0	0	0.00283554	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611168	62611168	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:62611168C>A	ENST00000281156.4	-	5	870	c.592G>T	c.(592-594)Gct>Tct	p.A198S		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GCTGTGGGAGCTATTCTGATC	0.408000													17	41					1.99824e-07	4.57279e-07	0.000566183	1	0
SLC46A3	283537	broad.mit.edu	37	13	29286936	29286936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:29286936C>T	ENST00000266943.6	-	3	1310	c.941G>A	c.(940-942)gGa>gAa	p.G314E	SLC46A3_ENST00000380814.4_Missense_Mutation_p.G314E	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	314					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAGCCATATTCCTAGGAAACT	0.383000													28	47					0	0	0.001512	0	0
LYSMD1	388695	broad.mit.edu	37	1	151134321	151134321	+	Missense_Mutation	SNP	G	G	A	rs138522958		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:151134321G>A	ENST00000368908.5	-	2	1096	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	LYSMD1_ENST00000440902.2_Missense_Mutation_p.P98S	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	146					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGGGCGTGGGGGTTTCCTGG	0.517000													34	78					0	0	0.00283554	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133661584	133661584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:133661584C>T	ENST00000310926.4	-	11	1763	c.1490G>A	c.(1489-1491)gGg>gAg	p.G497E	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G421E	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	497					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AGCGGATCCCCCGGTCACACA	0.527000													16	59					0	0	0.00074312	0	0
SYVN1	84447	broad.mit.edu	37	11	64898201	64898201	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:64898201G>T	ENST00000526060.1	-	11	1228	c.1036C>A	c.(1036-1038)Ccg>Acg	p.P346T	SYVN1_ENST00000307289.6_Missense_Mutation_p.P295T|SYVN1_ENST00000377190.3_Missense_Mutation_p.P346T|SYVN1_ENST00000294256.8_Missense_Mutation_p.P346T|SYVN1_ENST00000526121.1_5'UTR			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	346	Pro-rich.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCAGGCTCCGGGGGTGGTGGT	0.692000													8	29					1.12685e-05	2.56899e-05	0.000274275	1	0
TTN	7273	broad.mit.edu	37	2	179569665	179569665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179569665C>T	ENST00000589042.1	-	104	29857	c.29633G>A	c.(29632-29634)aGg>aAg	p.R9878K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R8634K|TTN_ENST00000591111.1_Missense_Mutation_p.R9561K|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9561	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)			CTTTTCGTCCCTCTCTGACCT	0.328000													26	79					0	0	0.00127121	0	0
ZFP3	124961	broad.mit.edu	37	17	4995531	4995531	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:4995531G>A	ENST00000318833.3	+	2	1068	c.732G>A	c.(730-732)caG>caA	p.Q244Q		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TTCTACACCAGAGAATCCATA	0.383000													11	34					0	0	0.00185496	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95109925	95109925	+	RNA	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:95109925G>A	ENST00000469935.1	+	0	962					NR_015340.1																						CTTCCTGCACGACCGTGAGCT	0.582000													12	27					0	0	0.00136819	0	0
ETV7	51513	broad.mit.edu	37	6	36339258	36339258	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:36339258G>A	ENST00000373738.1	-	4	1193	c.348C>T	c.(346-348)ttC>ttT	p.F116F	ETV7_ENST00000538992.1_Silent_p.F20F|ETV7_ENST00000340181.4_Silent_p.F171F|ETV7_ENST00000339796.5_Silent_p.F171F|ETV7_ENST00000373737.4_Intron	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	171	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CCAGGTGGCCGAAGTTGCTGG	0.637000													6	17					0	0	0.00198382	0	0
ADORA3	140	broad.mit.edu	37	1	112042914	112042914	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:112042914C>T	ENST00000241356.4	-	2	1020	c.615G>A	c.(613-615)cgG>cgA	p.R205R	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	205					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TGAGTTTGTTCCGAATGATGT	0.428000													12	32					0	0	0.00136819	0	0
PRR15L	79170	broad.mit.edu	37	17	46030479	46030479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:46030479C>T	ENST00000300557.2	-	2	372	c.122G>A	c.(121-123)aGg>aAg	p.R41K	RP11-6N17.9_ENST00000582262.1_RNA	NM_024320.3	NP_077296.1	Q9BU68	PR15L_HUMAN	proline rich 15-like	41										NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						AGCGTCAGGCCTCGGGGGTTC	0.542000													92	52					0	0	0.00361006	0	0
GRM7	2917	broad.mit.edu	37	3	7620766	7620766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:7620766C>T	ENST00000486284.1	+	8	2447	c.2173C>T	c.(2173-2175)Cca>Tca	p.P725S	GRM7_ENST00000403881.1_Missense_Mutation_p.P725S|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.P725S|GRM7_ENST00000389336.4_Missense_Mutation_p.P725S|GRM7_ENST00000357716.4_Missense_Mutation_p.P725S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	725					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGGTGTTGATCCACCCAACAT	0.433000													14	35					0	0	0.00244969	0	0
PREX2	80243	broad.mit.edu	37	8	69046410	69046410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:69046410G>A	ENST00000288368.4	+	32	4160	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1295					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAACAGCAAGGAAAATGAGAT	0.498000													24	54					0	0	0.00395357	0	0
IL20RA	53832	broad.mit.edu	37	6	137325798	137325798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:137325798C>T	ENST00000367748.1	-	5	1077	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000541547.1_Missense_Mutation_p.R226Q|IL20RA_ENST00000316649.5_Missense_Mutation_p.R275Q			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	275	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GTGGATATATCGGTAGATGGA	0.413000													38	71					0	0	0.00170553	0	0
LHPP	64077	broad.mit.edu	37	10	126172720	126172720	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:126172720C>T	ENST00000368842.5	+	2	166	c.138C>T	c.(136-138)tcC>tcT	p.S46S	LHPP_ENST00000392757.4_Silent_p.S46S|LHPP_ENST00000368839.1_Silent_p.S46S	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	46					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		TGAAGCGTTCCCGGCTGAAGG	0.617000													5	18					0	0	0.000602214	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768843	140768843	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:140768843G>A	ENST00000519479.1	+	1	1392	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCTGGAGCCT	0.552000													30	65					0	0	0.001512	0	0
ASCC2	84164	broad.mit.edu	37	22	30185011	30185011	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:30185011G>A	ENST00000397771.2	-	21	2442	c.2265C>T	c.(2263-2265)atC>atT	p.I755I	ASCC2_ENST00000542393.1_Silent_p.I679I|ASCC2_ENST00000307790.3_Silent_p.I755I			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	755					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTCAGGATGGGATCATGCCTT	0.632000													38	81					0	0	0.00111076	0	0
CTNND2	1501	broad.mit.edu	37	5	11117663	11117663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:11117663C>T	ENST00000304623.8	-	13	2365	c.2176G>A	c.(2176-2178)Gga>Aga	p.G726R	CTNND2_ENST00000503622.1_Missense_Mutation_p.G389R|CTNND2_ENST00000359640.2_Missense_Mutation_p.G726R|CTNND2_ENST00000511377.1_Missense_Mutation_p.G635R|CTNND2_ENST00000458100.2_Missense_Mutation_p.G293R|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	726					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCCTCCTCTCCGGCCGAACTA	0.527000													27	48					0	0	0.000720815	0	0
OR2J3	442186	broad.mit.edu	37	6	29080300	29080300	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:29080300C>T	ENST00000377169.1	+	1	633	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TATTTGTTCTCATACCTCTCA	0.448000													13	33					0	0	0.00136819	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181826	81181826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:81181826G>A	ENST00000394685.3	+	10	1398	c.979G>A	c.(979-981)Gag>Aag	p.E327K	KIAA1199_ENST00000356249.5_Missense_Mutation_p.E327K|KIAA1199_ENST00000220244.3_Missense_Mutation_p.E327K			Q8WUJ3	K1199_HUMAN	KIAA1199	327										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGAGTGGACGGAGTGGTTCGA	0.483000													17	42					0	0	0.00121646	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507600	74507600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:74507600C>T	ENST00000354431.4	-	7	1206	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E339K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	339										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCCACAATTTCATCTTCAGAC	0.308000													7	22					0	0	0.000442599	0	0
FAM91A1	157769	broad.mit.edu	37	8	124822612	124822612	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:124822612C>T	ENST00000521166.1	+	23	2599	c.2352C>T	c.(2350-2352)tcC>tcT	p.S784S	FAM91A1_ENST00000334705.7_Intron			Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	0										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CCAAAAAGTCCAAATGGTACT	0.343000													21	70					0	0	0.00229938	0	0
WDR36	134430	broad.mit.edu	37	5	110462456	110462456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:110462456G>A	ENST00000506538.2	+	23	3304	c.2731G>A	c.(2731-2733)Gag>Aag	p.E911K	WDR36_ENST00000513710.2_Missense_Mutation_p.E911K	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	911					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCTTCCTTCAGAGCCAGTACT	0.318000													18	32					0	0	0.00229938	0	0
CHRM4	1132	broad.mit.edu	37	11	46406905	46406905	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:46406905C>T	ENST00000433765.2	-	1	1202	c.1203G>A	c.(1201-1203)acG>acA	p.T401T		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	401					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	p.T401T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TGGCAAAGATCGTTCGTGTCA	0.617000													10	18					0	0	0.000442599	0	0
RECK	8434	broad.mit.edu	37	9	36083446	36083446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:36083446C>T	ENST00000377966.3	+	8	1090	c.524C>T	c.(523-525)cCt>cTt	p.P175L	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	175	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GACTCTTCTCCTGGTCCATCT	0.398000													17	27					0	0	0.000958276	0	0
VTCN1	79679	broad.mit.edu	37	1	117695783	117695783	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:117695783C>T	ENST00000369458.3	-	4	732	c.654G>A	c.(652-654)acG>acA	p.T218T	VTCN1_ENST00000328189.3_Silent_p.T102T|VTCN1_ENST00000359008.4_Silent_p.T221T|VTCN1_ENST00000539893.1_Silent_p.T123T	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	218	Ig-like V-type 2.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGTTGTTGATCGTAACATTGT	0.438000													39	64					0	0	0.00128727	0	0
PDE1C	5137	broad.mit.edu	37	7	31904603	31904603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:31904603C>T	ENST00000396184.3	-	8	907	c.703G>A	c.(703-705)Gat>Aat	p.D235N	PDE1C_ENST00000396191.1_Missense_Mutation_p.D235N|PDE1C_ENST00000396182.2_Missense_Mutation_p.D235N|PDE1C_ENST00000396193.1_Missense_Mutation_p.D295N|PDE1C_ENST00000321453.7_Missense_Mutation_p.D235N	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	235	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D235N(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGTGTAACATCGGCAGCGTGC	0.453000													28	36					0	0	0.000878237	0	0
MCHR2	84539	broad.mit.edu	37	6	100368967	100368967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:100368967G>A	ENST00000281806.2	-	6	1186	c.872C>T	c.(871-873)tCc>tTc	p.S291F	MCHR2_ENST00000369212.1_Missense_Mutation_p.S291F|MCHR2_ENST00000445970.1_Missense_Mutation_p.S291F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	291						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GAGACAGATGGAGAGGTAATA	0.468000													23	44					0	0	0.00332997	0	0
EPPK1	83481	broad.mit.edu	37	8	144942406	144942406	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:144942406G>A	ENST00000525985.1	-	2	5087	c.5016C>T	c.(5014-5016)atC>atT	p.I1672I				P58107	EPIPL_HUMAN	epiplakin 1	1672						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCCCGGACGATGAGGTCCT	0.687000													31	47					0	0	0.00209593	0	0
MYT1	4661	broad.mit.edu	37	20	62871696	62871696	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:62871696C>T	ENST00000536311.1	+	23	3706	c.3342C>T	c.(3340-3342)ttC>ttT	p.F1114F	MYT1_ENST00000328439.1_Silent_p.F1087F			Q01538	MYT1_HUMAN	myelin transcription factor 1	1087					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AACAGAATTTCGATGCCTATG	0.567000													9	29					0	0	0.000673444	0	0
GATA4	2626	broad.mit.edu	37	8	11606556	11606556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:11606556G>A	ENST00000335135.4	+	3	1303	c.745G>A	c.(745-747)Ggc>Agc	p.G249S	GATA4_ENST00000528712.1_Missense_Mutation_p.G43S|GATA4_ENST00000532059.1_Missense_Mutation_p.G250S	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	249					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CAAGATGAACGGCATCAACCG	0.637000													12	31					0	0	0.00136819	0	0
CWH43	80157	broad.mit.edu	37	4	49005952	49005952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:49005952G>A	ENST00000226432.4	+	7	1186	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	CWH43_ENST00000513409.1_Missense_Mutation_p.A308T	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	335					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTGGTGCACAGCTTTTAAGTT	0.393000													9	19					0	0	0.000442599	0	0
PPP6C	5537	broad.mit.edu	37	9	127923119	127923119	+	Splice_Site	SNP	C	C	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:127923119C>G	ENST00000451402.1	-	4	569		c.e4+1		PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000373547.4_Splice_Site|PPP6C_ENST00000415905.1_Intron	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit						G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TGTTTACATACCATAAATATG	0.328000													16	13					0	0	0.000566183	0	0
FRMPD2	143162	broad.mit.edu	37	10	49420096	49420096	+	Silent	SNP	G	G	A	rs116034209	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:49420096G>A	ENST00000374201.3	-	13	1814	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	FRMPD2_ENST00000305531.3_Silent_p.I479I|FRMPD2_ENST00000407470.4_Silent_p.I472I	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	504	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCATCCTCTCGATCAGACTCG	0.532000													8	23					0	0	0.000274275	0	0
FCGBP	8857	broad.mit.edu	37	19	40398331	40398331	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:40398331C>T	ENST00000221347.6	-	14	6643	c.6636G>A	c.(6634-6636)ggG>ggA	p.G2212G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2212	VWFD 5.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTTGTAGTTCCCGCATAAGC	0.692000													24	90					0	0	0.00209593	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603753	28603753	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:28603753C>T	ENST00000533150.1	-	3	1623	c.507G>A	c.(505-507)agG>agA	p.R169R	SULT1A2_ENST00000335715.4_Silent_p.R202R|SULT1A2_ENST00000395630.1_Silent_p.R202R			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	202					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TTTGAATCTCCCTTTTGGGGT	0.522000													7	45					0	0	0.00198382	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146570	70146570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:70146570G>A	ENST00000335568.5	+	1	354	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.E118K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	118					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AATCCTGTGGGAATTTCATGA	0.299000													35	67					0	0	0.00327116	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032214	10032214	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:10032214C>T	ENST00000396573.2	-	4	918	c.609G>A	c.(607-609)gtG>gtA	p.V203V	GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Silent_p.V203V|GRIN2A_ENST00000535259.1_Silent_p.V46V|GRIN2A_ENST00000562109.1_Silent_p.V203V|GRIN2A_ENST00000330684.3_Silent_p.V203V|GRIN2A_ENST00000396575.2_Silent_p.V203V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	203					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCAGTGTGATCACATTCTGCA	0.498000													23	75					0	0	0.00127121	0	0
IGHV3-16	28447	broad.mit.edu	37	14	106622063	106622063	+	RNA	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:106622063C>T	ENST00000390604.2	-	0	255																											CAGCCCCTTTCCTGGAGCCTT	0.567000													50	118					0	0	0.00361006	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186107	127186107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:127186107C>T	ENST00000371124.3	-	1	275	c.79G>A	c.(79-81)Gga>Aga	p.G27R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	27						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCAATCTCTCCAGACAGGCCT	0.443000													24	6					0	0	0.00332997	0	0
TSPAN32	10077	broad.mit.edu	37	11	2337829	2337829	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:2337829C>T	ENST00000182290.4	+	8	788	c.651C>T	c.(649-651)tcC>tcT	p.S217S	TSPAN32_ENST00000381121.3_Silent_p.S217S|TSPAN32_ENST00000451520.2_Silent_p.S206S	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	217					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCTTCAGCTCCTTCCTGTGGT	0.682000													12	31					0	0	0.00185496	0	0
KIAA1804	84451	broad.mit.edu	37	1	233511808	233511808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:233511808G>A	ENST00000366624.3	+	7	2083	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	MLK4_ENST00000366622.1_Missense_Mutation_p.E54K	NM_032435.2	NP_115811.2																					AGATTGCAAAGAAAGGTACGT	0.348000													11	26					0	0	0.00244969	0	0
LOC440040	440040	broad.mit.edu	37	11	49597782	49597782	+	RNA	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:49597782G>A	ENST00000527477.1	+	0	386																											TTATTAGCTGGAACTCCTGTC	0.478000													5	12					0	0	0.00116845	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983524	128983524	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:128983524C>T	ENST00000274487.4	+	12	2066	c.1921C>T	c.(1921-1923)Ctg>Ttg	p.L641L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	641	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGAGTGGAGCCTGTGGAGTCC	0.522000													40	85					0	0	0.00195071	0	0
PPM1L	151742	broad.mit.edu	37	3	160783293	160783293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:160783293C>T	ENST00000498165.1	+	3	778	c.677C>T	c.(676-678)cCt>cTt	p.P226L	PPM1L_ENST00000295839.9_Missense_Mutation_p.P99L|PPM1L_ENST00000464260.1_Missense_Mutation_p.P47L|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	226	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AACGCTATTCCTTTGTCTCAT	0.483000													29	39					0	0	0.00127121	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596214	24596214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:24596214G>A	ENST00000535378.1	-	4	1303	c.661C>T	c.(661-663)Cct>Tct	p.P221S	KIAA0319_ENST00000543707.1_Missense_Mutation_p.P230S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P230S|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P230S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P185S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	230					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTTCTCTCAGGGAGTTTTGGG	0.552000													9	12					0	0	0.000274275	0	0
PCM1	5108	broad.mit.edu	37	8	17796417	17796417	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:17796417T>G	ENST00000325083.8	+	5	950	c.511T>G	c.(511-513)Tgt>Ggt	p.C171G	PCM1_ENST00000518537.1_Missense_Mutation_p.C171G|PCM1_ENST00000519253.1_Missense_Mutation_p.C171G|PCM1_ENST00000524226.1_Missense_Mutation_p.C171G	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	171					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATCAGCACAGTGTAAAGAGTT	0.443000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								21	36					0	0	0.00152264	0	0
ENC1	8507	broad.mit.edu	37	5	73931133	73931133	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:73931133A>G	ENST00000302351.4	-	2	2308	c.1178T>C	c.(1177-1179)gTt>gCt	p.V393A	ENC1_ENST00000537006.1_Missense_Mutation_p.V393A|ENC1_ENST00000510316.1_Missense_Mutation_p.V320A	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	393					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GTGCCCCCCAACCACATACAG	0.577000													20	44					0	0	0.00152264	0	0
SERPINA6	866	broad.mit.edu	37	14	94780373	94780373	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:94780373C>T	ENST00000341584.3	-	2	759	c.613_splice	c.e2+1	p.G205_splice		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	205					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GTGGGAATACCTTTGAAGAAG	0.483000													24	47					0	0	0.00332997	0	0
RFPL1	5988	broad.mit.edu	37	22	29837591	29837591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:29837591G>A	ENST00000354373.2	+	2	643	c.434G>A	c.(433-435)aGg>aAg	p.R145K	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	145	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GACGACCTCAGGAGCGTCCGA	0.502000													13	36					0	0	0.00400662	0	0
L1TD1	54596	broad.mit.edu	37	1	62676159	62676159	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:62676159G>A	ENST00000498273.1	+	4	2008	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	571										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGCATAAAAAGCATTCACATA	0.418000													12	26					0	0	0.00136819	0	0
CUX1	1523	broad.mit.edu	37	7	101870752	101870752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:101870752C>T	ENST00000360264.3	+	21	3289	c.3269C>T	c.(3268-3270)cCc>cTc	p.P1090L	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P977L|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P1079L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P921L|CUX1_ENST00000550008.2_Missense_Mutation_p.P1023L|CUX1_ENST00000549414.2_Missense_Mutation_p.P1057L|CUX1_ENST00000547394.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1079					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGCCCTGTCCCCCCATCGAG	0.662000													18	18					0	0	0.00074312	0	0
DNAH5	1767	broad.mit.edu	37	5	13850770	13850770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:13850770G>A	ENST00000265104.4	-	31	5209	c.5105C>T	c.(5104-5106)tCc>tTc	p.S1702F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1702	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAGTAAGGGATTTCTGGCA	0.468000									Kartagener syndrome				11	28					0	0	0.00136819	0	0
SYN1	6853	broad.mit.edu	37	X	47466579	47466579	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:47466579C>T	ENST00000295987.7	-	2	520	c.396G>A	c.(394-396)ggG>ggA	p.G132G	SYN1_ENST00000340666.4_Silent_p.G132G	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	132	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GGATCTTTTTCCCTTTGAAGT	0.438000													16	4					0	0	0.00074312	0	0
ZNF765	91661	broad.mit.edu	37	19	53905318	53905318	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:53905318G>A	ENST00000396408.3	+	3	133	c.15_splice	c.e3-1	p.G6_splice	ZNF765_ENST00000594030.1_Splice_Site_p.G6_splice	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TTCATTTCAGGGTCTATTGAC	0.433000													21	67					0	0	0.00395357	0	0
ZNF214	7761	broad.mit.edu	37	11	7022704	7022704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:7022704C>T	ENST00000278314.4	-	3	525	c.210G>A	c.(208-210)tgG>tgA	p.W70*	ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Nonsense_Mutation_p.W70*	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CAGCATTCCACCAGCCTTGCC	0.403000													56	148					0	0	0.00361006	0	0
CPN2	1370	broad.mit.edu	37	3	194062946	194062946	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:194062946C>T	ENST00000323830.3	-	2	575	c.486G>A	c.(484-486)agG>agA	p.R162R	CPN2_ENST00000429275.1_Silent_p.R162R	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	162					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGAAGAGCCTCCTGGGCAGGG	0.642000													20	33					0	0	0.000958276	0	0
ADAM18	8749	broad.mit.edu	37	8	39442827	39442827	+	Missense_Mutation	SNP	C	C	T	rs150907859	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:39442827C>T	ENST00000265707.5	+	2	133	c.88C>T	c.(88-90)Cca>Tca	p.P30S	ADAM18_ENST00000520772.1_Missense_Mutation_p.P30S|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.P30S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	30					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGTCACAGTTCCACGGAAGAT	0.343000													15	27					0	0	0.000566183	0	0
TENM3	55714	broad.mit.edu	37	4	183713602	183713602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:183713602C>T	ENST00000511685.1	+	26	5900	c.5777C>T	c.(5776-5778)aCg>aTg	p.T1926M	TENM3_ENST00000406950.2_Missense_Mutation_p.T1926M					teneurin transmembrane protein 3																		TCCATCATCACGGACTACAAC	0.512000													11	27					0	0	0.00136819	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654188	61654188	+	Silent	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:61654188C>T	ENST00000397985.2	+	7	1057	c.801C>T	c.(799-801)ttC>ttT	p.F267F	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Silent_p.F85F|SERPINB8_ENST00000353706.2_Silent_p.F267F	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	267					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTCAAGTTTTCCTTCCCAGAT	0.393000													34	47					0	0	0.0024448	0	0
CACNG3	10368	broad.mit.edu	37	16	24268165	24268165	+	Silent	SNP	G	G	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:24268165G>A	ENST00000005284.3	+	1	1292	c.90G>A	c.(88-90)acG>acA	p.T30T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	30					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T30T(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAGTGGGCACGGACTACTGGT	0.443000													43	81					0	0	0.00285205	0	0
CMYA5	202333	broad.mit.edu	37	5	79029836	79029836	+	Missense_Mutation	SNP	G	G	A	rs62621913		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:79029836G>A	ENST00000446378.2	+	2	5279	c.5248G>A	c.(5248-5250)Gga>Aga	p.G1750R		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1750						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCTTTAAAAGGATTATCAGA	0.438000													12	41					0	0	0.000978159	0	0
STAB2	55576	broad.mit.edu	37	12	104063386	104063386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:104063386C>T	ENST00000388887.2	+	21	2444	c.2240C>T	c.(2239-2241)cCa>cTa	p.P747L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	747	EGF-like 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.P747L(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTCTCAAATCCATGCTCAGGA	0.408000													20	70					0	0	0.00188189	0	0
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cag>ca	p.QTG371del	PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	371						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													2	4	---	---	---	---					
IFRD2	7866	broad.mit.edu	37	3	50326964	50326964	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:50326964delC	ENST00000436390.1	-	10	1190	c.693delG	c.(691-693)ctfs	p.L231fs	IFRD2_ENST00000417626.2_Frame_Shift_Del_p.L231fs|IFRD2_ENST00000429673.2_Frame_Shift_Del_p.L295fs|IFRD2_ENST00000336089.4_Frame_Shift_Del_p.L397fs			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	295							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGGCCGTGCAGGCTGGCAG	0.597													2	4	---	---	---	---					
FAM86EP	348926	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:3951121_3951122insTGTC	ENST00000281228.8	-	0	344				FAM86EP_ENST00000313946.8_RNA																							cgttttcACTTTGTGCAGGAAG	0.515													5	2	---	---	---	---					
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gag>ga	p.EE50del	TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptosis	PML body		p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													9	383	---	---	---	---					
FRA10AC1	118924	broad.mit.edu	37	10	95459812	95459813	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:95459812_95459813delCA	ENST00000359204.4	-	2	248_249	c.51_52delTG	c.(49-54)tggafs	p.CG17fs	FRA10AC1_ENST00000371430.2_Frame_Shift_Del_p.CG17fs|FRA10AC1_ENST00000394100.2_Frame_Shift_Del_p.CG17fs|FRA10AC1_ENST00000536233.1_Frame_Shift_Del_p.CG17fs	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	17						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						CTGGATTCTCCACAGCGTTCAT	0.322													18	26	---	---	---	---					
IRAK4	51135	broad.mit.edu	37	12	44166759	44166761	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:44166759_44166761delAAC	ENST00000431837.1	+	4	471_473	c.163_165delAAC	c.(163-165)del	p.N55del	IRAK4_ENST00000448290.2_In_Frame_Del_p.N179del|IRAK4_ENST00000440781.2_In_Frame_Del_p.N55del|IRAK4_ENST00000551736.1_In_Frame_Del_p.N179del	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	179	Death.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TGTCACAAATAACTTTGATGAAC	0.300													9	28	---	---	---	---					
TGDS	23483	broad.mit.edu	37	13	95230979	95230984	+	Splice_Site	DEL	CATACC	CATACC	-			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:95230979_95230984delCATACC	ENST00000261296.5	-	8	779_780	c.659_splice	c.e8+1	p.220_splice	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	220					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GTAATAATAACATACCATTTCCTGTT	0.282													11	66	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312													3	3	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs75843814		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020																											GATGCTGCTTCTCAGAGCTGCTGT	0.583													2	4	---	---	---	---					
MYH11	4629	broad.mit.edu	37	16	15931989	15931989	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:15931989delC	ENST00000338282.6	-	2	227	c.121delG	c.(121-123)agfs	p.E41fs	MYH11_ENST00000452625.2_Frame_Shift_Del_p.E41fs|MYH11_ENST00000396324.3_Frame_Shift_Del_p.E41fs|MYH11_ENST00000300036.5_Frame_Shift_Del_p.E41fs|MYH11_ENST00000576790.1_Frame_Shift_Del_p.E41fs	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	41	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCCTGCTTCTCCGAGGGGACC	0.567			T	CBFB	AML								31	72	---	---	---	---					
APOBR	55911	broad.mit.edu	37	16	28507398	28507424	+	In_Frame_Del	DEL	GGGACAGCCTCAGGAGGGGAGGAGGCC	GGGACAGCCTCAGGAGGGGAGGAGGCC	-	rs71657822		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC	ENST00000564831.1	+	2	1069_1095	c.1036_1062delGGGACAGCCTCAGGAGGGGAGGAGGCC	c.(1036-1062)del	p.GTASGGEEA355del	APOBR_ENST00000328423.5_Splice_Site_p.346_splice|APOBR_ENST00000431282.1_Splice_Site_p.346_splice	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	355	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGGGGAGGCTGGGACAGCCTCAGGAGGGGAGGAGGCCGGGACAGCCT	0.705													8	25	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													6	3	---	---	---	---					
PVRL2	5819	broad.mit.edu	37	19	45381749	45381751	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:45381749_45381751delGAG	ENST00000252485.4	+	6	1663_1665	c.1312_1314delGAG	c.(1312-1314)del	p.E445del	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	504					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591													7	337	---	---	---	---					
