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
KIF7	374654	broad.mit.edu	37	15	90190895	90190895	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:90190895G>T	ENST00000394412.3	-	6	1568	c.1492C>A	c.(1492-1494)Cgg>Agg	p.R498R		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	498					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCCTCCAGCCGCGCCACCTGG	0.672000											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	5					3.09899e-07	3.59293e-07	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73848398	73848398	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:73848398G>C	ENST00000523207.1	+	3	1396	c.808G>C	c.(808-810)Gat>Cat	p.D270H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	270					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAATGTCATTGATTTGCTGGC	0.468000													35	62					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944359	55944359	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:55944359A>T	ENST00000312298.1	+	1	266	c.266A>T	c.(265-267)aAg>aTg	p.K89M		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTGGTTGTGAAGGCAACAATT	0.458000													38	58					0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121705982	121705982	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:121705982G>C	ENST00000395601.3	-	3	1152	c.738C>G	c.(736-738)ctC>ctG	p.L246L	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Silent_p.L246L	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	246	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AGCACATTTTGAGGGGGATGC	0.567000													10	66					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203679	84203679	+	Silent	SNP	C	C	A	rs147804813	byFrequency	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:84203679C>A	ENST00000378553.5	+	8	1369	c.1245C>A	c.(1243-1245)acC>acA	p.T415T	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	415	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CAGAGGGGACCCTCCCAGCTG	0.622000													31	49					6.00712e-18	8.15801e-18	1	1	0
PCK2	5106	broad.mit.edu	37	14	24572007	24572007	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:24572007C>T	ENST00000545054.2	+	8	1796	c.878C>T	c.(877-879)cCg>cTg	p.P293L	PCK2_ENST00000561286.1_Missense_Mutation_p.P293L|PCK2_ENST00000559250.1_Missense_Mutation_p.P439L|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.P293L|PCK2_ENST00000216780.4_Missense_Mutation_p.P427L			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	427					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TTTTGTGCCCCGGCTCGCCAG	0.562000													20	109					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44841709	44841709	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:44841709C>A	ENST00000372262.3	-	5	1357	c.957G>T	c.(955-957)gaG>gaT	p.E319D	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.E319D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	319	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGCTGCTGCTCTCGTCCTTAA	0.582000													17	22					5.01169e-05	5.54419e-05	1	1	0
IFT81	28981	broad.mit.edu	37	12	110566905	110566905	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:110566905G>T	ENST00000242591.5	+	4	905	c.399G>T	c.(397-399)caG>caT	p.Q133H	IFT81_ENST00000552912.1_Missense_Mutation_p.Q133H|IFT81_ENST00000361948.4_Missense_Mutation_p.Q133H	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	133					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGTTTCTTCAGGATGAAACTG	0.348000													15	18					3.52763e-06	3.96859e-06	1	1	0
HBD	3045	broad.mit.edu	37	11	5254322	5254322	+	Splice_Site	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:5254322G>A	ENST00000380299.3	-	3	530	c.315_splice	c.e3-1	p.L106_splice	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	106					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGCCCAAGAGCTGCGGAGAA	0.502000													12	30					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119466698	119466698	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:119466698G>A	ENST00000273390.5	+	16	2169	c.2092G>A	c.(2092-2094)Gtt>Att	p.V698I	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		TGCTGAGTTGGTTTATAGTTT	0.308000													8	8					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796736	109796736	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:109796736C>G	ENST00000297459.3	-	2	770	c.592G>C	c.(592-594)Gtc>Ctc	p.V198L	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	198					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCCCGTGGGACGATGTAAGAG	0.572000													14	37					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520759	33520759	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:33520759C>G	ENST00000297307.5	-	1	653	c.568G>C	c.(568-570)Gcc>Ccc	p.A190P		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	190						integral to membrane											TAGCCCAGGGCGGTGTAGACA	0.597000													63	107					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563374	8563374	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:8563374G>A	ENST00000423345.4	-	2	1838	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	PRAM1_ENST00000255612.3_Missense_Mutation_p.R440W			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	488	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGCCTCCGCCGGGGTGGATGG	0.716000													10	13					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486317	125486317	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:125486317G>T	ENST00000259466.1	+	1	49	c.49G>T	c.(49-51)Ggc>Tgc	p.G17C		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CATCCTCCTGGGCCTCTCTTC	0.498000													59	145					3.30226e-22	4.676e-22	1	1	0
CDT1	81620	broad.mit.edu	37	16	88874608	88874608	+	Silent	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:88874608C>G	ENST00000301019.4	+	10	2182	c.1563C>G	c.(1561-1563)gtC>gtG	p.V521V		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	521					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		ACACCTACGTCAAGCTGGACA	0.672000													8	16					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160505046	160505046	+	Silent	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:160505046A>G	ENST00000356956.1	+	40	6046	c.5898A>G	c.(5896-5898)ccA>ccG	p.P1966P		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1966					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTGGGAGGCCACAAGTCTTCA	0.463000													43	68					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43246074	43246074	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:43246074C>G	ENST00000512796.1	+	2	1696	c.197C>G	c.(196-198)aCg>aGg	p.T66R	NIM1_ENST00000326035.2_Missense_Mutation_p.T66R			Q8IY84	NIM1_HUMAN		66							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										AGGGAGATCACGCTGGGGAAA	0.552000													22	71					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698150	111698150	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:111698150A>G	ENST00000340433.2	+	1	424	c.194A>G	c.(193-195)cAt>cGt	p.H65R		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	65							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACCCAGTTTCATGGTGACCCT	0.512000													27	9					0	0	1	0	0
FAM69B	138311	broad.mit.edu	37	9	139616668	139616668	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:139616668C>G	ENST00000371691.1	+	2	1236	c.137C>G	c.(136-138)cCc>cGc	p.P46R	FAM69B_ENST00000371692.4_Missense_Mutation_p.P133R|SNHG7_ENST00000414282.1_RNA			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	133						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		GATGCGGCCCCCCGGCGGGAG	0.627000													5	43					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99969345	99969345	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:99969345A>G	ENST00000298999.3	+	5	1777	c.1474A>G	c.(1474-1476)Agt>Ggt	p.S492G	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S492G|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		CTCTGAACTCAGTATGTTAAA	0.403000													44	12					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24135177	24135177	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:24135177A>G	ENST00000303531.7	+	9	1092	c.940A>G	c.(940-942)Acc>Gcc	p.T314A	PRKCB_ENST00000321728.7_Missense_Mutation_p.T314A	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	314					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CAGTCAGGGAACCAAGGTCCC	0.473000													31	9					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155837976	155837976	+	Silent	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:155837976T>G	ENST00000368324.4	+	2	508	c.255T>G	c.(253-255)ccT>ccG	p.P85P	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	85						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AAGATGGTCCTGGGAGGGAAG	0.512000													35	48					0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25983800	25983800	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:25983800G>T	ENST00000357085.3	+	8	1759	c.1283G>T	c.(1282-1284)gGg>gTg	p.G428V	TRIM38_ENST00000349458.3_Missense_Mutation_p.G428V	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	428	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TTTTATAACGGGAATACTGGC	0.473000													25	52					1.85244e-09	2.2717e-09	1	1	0
MKL2	57496	broad.mit.edu	37	16	14341304	14341304	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:14341304G>T	ENST00000571589.1	+	12	2359	c.2187G>T	c.(2185-2187)gtG>gtT	p.V729V	MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Silent_p.V718V|MKL2_ENST00000574045.1_Intron	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	718	Gln-rich.				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			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						TGCTCCCAGTGTCCATCCAGG	0.557000													6	6					0.00116845	0.0012509	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112462049	112462049	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:112462049C>A	ENST00000230538.7	-	22	3286	c.2889G>T	c.(2887-2889)aaG>aaT	p.K963N	LAMA4_ENST00000389463.4_Missense_Mutation_p.K956N|LAMA4_ENST00000424408.2_Missense_Mutation_p.K956N|LAMA4_ENST00000522006.1_Missense_Mutation_p.K956N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	963	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAAATTCCCCCTTTTTAATGA	0.438000													22	32					6.44725e-10	7.98017e-10	1	1	0
ANO1	55107	broad.mit.edu	37	11	69949232	69949232	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:69949232G>C	ENST00000355303.5	+	3	807	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	ANO1_ENST00000530676.1_Missense_Mutation_p.E52Q|ANO1_ENST00000538023.1_Missense_Mutation_p.E168Q|ANO1_ENST00000398543.2_Missense_Mutation_p.E52Q|ANO1_ENST00000316296.5_Missense_Mutation_p.E140Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	168					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GCTGTGCAGAGAGGCCGAGTT	0.537000													10	9					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94044259	94044259	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:94044259G>C	ENST00000553484.1	+	18	2437	c.2283G>C	c.(2281-2283)caG>caC	p.Q761H	UNC79_ENST00000393151.2_Missense_Mutation_p.Q761H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q761H|UNC79_ENST00000256339.4_Missense_Mutation_p.Q584H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	761						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTCCTTTCCAGAGTCCGTTTC	0.453000													6	234					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132412462	132412462	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:132412462C>T	ENST00000304858.2	+	7	1069	c.780C>T	c.(778-780)atC>atT	p.I260I	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	260					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCCAAAATCCGTGCATTAT	0.368000													21	16					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240492374	240492374	+	Splice_Site	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:240492374A>T	ENST00000319653.9	+	9	4445		c.e9-1		FMN2_ENST00000545751.1_Splice_Site	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2						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)			TTGTTTTTCTAGAGAGCACAG	0.368000													17	23					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203316799	203316799	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:203316799C>T	ENST00000354955.4	-	2	1063	c.600G>A	c.(598-600)gaG>gaA	p.E200E	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	200					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CCGTGAGGTTCTCCAGCCCCT	0.587000													30	90					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	323371	323371	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:323371A>T	ENST00000280886.6	-	37	4652	c.4565T>A	c.(4564-4566)aTc>aAc	p.I1522N		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1522						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GATGACGCCGATGTCCACCAC	0.592000													21	17					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394588	17394588	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:17394588G>C	ENST00000394458.3	+	5	1291	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H	ANKLE1_ENST00000594072.1_Missense_Mutation_p.D328H|ANKLE1_ENST00000433424.2_Missense_Mutation_p.D393H|ANKLE1_ENST00000598347.1_Missense_Mutation_p.D339H|ANKLE1_ENST00000404085.1_Missense_Mutation_p.D361H	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	339						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCTGACAGAGGATGAGGCAAG	0.612000													29	48					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93081801	93081801	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:93081801G>C	ENST00000216487.7	+	4	576	c.417G>C	c.(415-417)ttG>ttC	p.L139F	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	139	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCTTCAGATTGATTGCGTTCT	0.537000													38	103					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113668483	113668483	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:113668483G>T	ENST00000297405.5	-	18	3148	c.2904C>A	c.(2902-2904)acC>acA	p.T968T	CSMD3_ENST00000352409.3_Silent_p.T968T|CSMD3_ENST00000455883.2_Silent_p.T864T|CSMD3_ENST00000343508.3_Silent_p.T928T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	968	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGGCACTTGGGTGCCATTGT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	44					2.32078e-09	2.82646e-09	1	1	0
SLC35G3	146861	broad.mit.edu	37	17	33520477	33520477	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:33520477C>T	ENST00000297307.5	-	1	935	c.850G>A	c.(850-852)Gct>Act	p.A284T		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	284	DUF6 2.					integral to membrane		p.A284T(1)									TGTAGGACAGCGCACACCAGG	0.582000													62	85					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97276534	97276534	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:97276534C>G	ENST00000599854.1	-	11	1454	c.987G>C	c.(985-987)atG>atC	p.M329I	KANSL3_ENST00000431828.1_Missense_Mutation_p.M416I|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.M210I|KANSL3_ENST00000441706.2_Missense_Mutation_p.M329I	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	416																	GGAAGTCCTCCATGGCTTCAG	0.498000													40	71					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67256516	67256516	+	Missense_Mutation	SNP	T	T	A	rs141602707		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:67256516T>A	ENST00000392676.3	-	27	3666	c.3602A>T	c.(3601-3603)tAt>tTt	p.Y1201F	ABCA5_ENST00000588877.1_Missense_Mutation_p.Y1201F|ABCA5_ENST00000392677.2_Missense_Mutation_p.Y1202F			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1201					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCATGGATTATAGGTGTCCAC	0.313000													14	10					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23510043	23510043	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:23510043C>A	ENST00000296682.3	+	4	390	c.208C>A	c.(208-210)Cga>Aga	p.R70R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	70	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R70*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGAGCCACTCGACCAGCTTT	0.483000										HNSCC(3;0.000094)			34	22					9.8876e-21	1.38166e-20	1	1	0
INPP5J	27124	broad.mit.edu	37	22	31521997	31521997	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:31521997G>T	ENST00000331075.5	+	2	1320		c.e2+1		INPP5J_ENST00000405300.1_Splice_Site|INPP5J_ENST00000404390.3_Intron|INPP5J_ENST00000412277.2_Splice_Site|INPP5J_ENST00000400294.2_Splice_Site			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J							cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCGGCTTCCGGTGAGGGGGCC	0.597000													4	9					0.014758	0.0153959	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190068141	190068141	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:190068141G>C	ENST00000367462.3	-	8	1539	c.1308C>G	c.(1306-1308)acC>acG	p.T436T	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.T334T	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		436						extracellular region		p.T436T(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCAGGAACGCGGTGCAGACCA	0.602000													11	23					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215345468	215345468	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:215345468C>T	ENST00000444842.2	+	5	915	c.765C>T	c.(763-765)gaC>gaT	p.D255D	KCNK2_ENST00000391894.2_Silent_p.D240D|KCNK2_ENST00000391895.2_Silent_p.D251D	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	255							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GTGCCCTGGACGCCATTTATT	0.423000													20	47					0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83983096	83983096	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:83983096G>A	ENST00000343939.2	+	1	425	c.42G>A	c.(40-42)atG>atA	p.M14I	OSGIN1_ENST00000361711.3_5'UTR|RP11-505K9.4_ENST00000561562.1_RNA			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	14					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGGGAAATATGCAGTGCAGAC	0.572000													20	39					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111695668	111695668	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:111695668G>A	ENST00000435970.1	-	15	4472	c.3656C>T	c.(3655-3657)tCt>tTt	p.S1219F	REV3L_ENST00000368805.1_Missense_Mutation_p.S1297F|REV3L_ENST00000358835.3_Missense_Mutation_p.S1297F|REV3L_ENST00000368802.3_Missense_Mutation_p.S1297F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1297					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)		TAAGAAAGAAGAAAAGCAGCC	0.423000								DNA polymerases (catalytic subunits)					13	55					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231606	21231606	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:21231606G>T	ENST00000233242.1	-	26	8261	c.8134C>A	c.(8134-8136)Cgt>Agt	p.R2712S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2712					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTGGTAAACGGAAGTCTGGC	0.463000													44	100					3.54561e-26	5.07471e-26	1	1	0
DMD	1756	broad.mit.edu	37	X	32536238	32536238	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:32536238C>A	ENST00000357033.4	-	18	2385	c.2179G>T	c.(2179-2181)Gat>Tat	p.D727Y	DMD_ENST00000378677.2_Missense_Mutation_p.D723Y|DMD_ENST00000288447.4_Missense_Mutation_p.D719Y	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	727					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAGTTATATCAACATCCAAC	0.333000													13	6					7.93312e-07	9.09824e-07	1	1	0
OR2F1	26211	broad.mit.edu	37	7	143657796	143657796	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:143657796C>A	ENST00000392899.1	+	1	770	c.733C>A	c.(733-735)Ctc>Atc	p.L245I		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	245					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)					TGCCTCTCACCTCACAGTGGT	0.493000													24	15					1.10513e-12	1.43128e-12	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124395562	124395562	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:124395562A>T	ENST00000338354.3	+	50	6323	c.6217A>T	c.(6217-6219)Agt>Tgt	p.S2073C	DMBT1_ENST00000344338.3_Missense_Mutation_p.S2063C|DMBT1_ENST00000359586.6_Missense_Mutation_p.S793C|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1445C|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1445C|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2063C|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2073C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2073	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCCTACCGCAGTTCCCCTCT	0.498000													24	10					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94776320	94776320	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:94776320G>T	ENST00000341584.3	-	3	783	c.637C>A	c.(637-639)Ctg>Atg	p.L213M		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	213					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)	GTGCTTGCCAGGTCAAAGGGC	0.532000													14	28					2.61681e-11	3.3163e-11	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152469313	152469313	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:152469313G>A	ENST00000367255.5	-	137	25444	c.24843C>T	c.(24841-24843)atC>atT	p.I8281I	SYNE1_ENST00000539504.1_Silent_p.I436I|SYNE1_ENST00000423061.1_Silent_p.I8210I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Silent_p.I8281I|SYNE1_ENST00000356820.4_Silent_p.I2805I|SYNE1_ENST00000341594.5_Silent_p.I7893I|SYNE1_ENST00000448038.1_Silent_p.I8210I|SYNE1_ENST00000354674.4_Silent_p.I436I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8281					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTCCAGGGGGATGGAGTCCA	0.597000										HNSCC(10;0.0054)			19	25					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938347	14938347	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:14938347T>G	ENST00000322301.3	-	2	794	c.707A>C	c.(706-708)aAg>aCg	p.K236T	OR7A5_ENST00000594432.1_Missense_Mutation_p.K236T|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GGAAAATGCCTTGTACTTCCC	0.488000													37	50					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30358468	30358468	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:30358468T>C	ENST00000327564.7	+	5	2109	c.2048T>C	c.(2047-2049)tTa>tCa	p.L683S	LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000341671.7_Missense_Mutation_p.L656S|LRRC37B_ENST00000543378.2_Missense_Mutation_p.L574S			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	656						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATGCAGTTTTTACACAACTTG	0.348000													14	22					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006200	118006200	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:118006200T>G	ENST00000310754.4	-	1	536	c.350A>C	c.(349-351)aAc>aCc	p.N117T		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	117	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTAAACTTGTTTTGTTTCGC	0.368000													4	32					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51664595	51664595	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:51664595A>C	ENST00000522124.1	+	18	1980	c.1319A>C	c.(1318-1320)aAa>aCa	p.K440T	SNTG1_ENST00000518864.1_Missense_Mutation_p.K440T|SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000276467.5_Intron	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	440					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCTCAGCTTAAAGGTTCTTCA	0.348000													28	94					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974682	49974682	+	Silent	SNP	T	T	A	rs145221317		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:49974682T>A	ENST00000555099.1	+	1	740	c.708T>A	c.(706-708)tcT>tcA	p.S236S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AAGCCCTCTCTACCTGTGTCT	0.463000													46	63					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142513555	142513555	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:142513555G>A	ENST00000378004.3	+	19	2077	c.1722G>A	c.(1720-1722)atG>atA	p.M574I	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.M574I	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	574					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCCGATATGCCTCTCACCA	0.542000													86	35					0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49819761	49819761	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:49819761C>T	ENST00000335847.4	-	3	249	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	CRISP1_ENST00000536021.1_Missense_Mutation_p.A50T|CRISP1_ENST00000507853.1_Missense_Mutation_p.A50T|CRISP1_ENST00000505118.1_Missense_Mutation_p.A50T|CRISP1_ENST00000329411.5_Missense_Mutation_p.A50T|CRISP1_ENST00000355791.2_Missense_Mutation_p.A50T	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	50					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CTCCTGAGGGCGTTGTGTATA	0.378000													20	41					0	0	1	0	0
BIRC7	79444	broad.mit.edu	37	20	61870933	61870933	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:61870933C>G	ENST00000217169.3	+	6	1087	c.873C>G	c.(871-873)agC>agG	p.S291R	BIRC7_ENST00000342412.6_Missense_Mutation_p.S273R|BIRC7_ENST00000395306.1_Missense_Mutation_p.S186R	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	291					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CCGTCCGCAGCCGCGTGCGCA	0.731000													7	24					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103387127	103387127	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:103387127C>A	ENST00000358392.2	-	48	4008	c.3690_splice	c.e48-1	p.G1231_splice	COL11A1_ENST00000370096.3_Splice_Site_p.G1219_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G1103_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1180_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1219	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)		CCAGGTGGCCCCTGTAAGAGA	0.363000													17	33					5.03518e-11	6.36591e-11	1	1	0
DCTN1	1639	broad.mit.edu	37	2	74598237	74598237	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:74598237G>A	ENST00000361874.3	-	9	1029	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	DCTN1_ENST00000409240.1_Missense_Mutation_p.R201W|DCTN1_ENST00000409567.3_Missense_Mutation_p.R218W|DCTN1_ENST00000394003.3_Missense_Mutation_p.R231W|DCTN1_ENST00000407639.2_Missense_Mutation_p.R104W|DCTN1_ENST00000409438.1_Missense_Mutation_p.R104W|DCTN1_ENST00000409868.1_Missense_Mutation_p.R221W	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	238					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCTTCTGCCCGTTTCAGTCTC	0.552000													167	236					0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154649432	154649432	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:154649432C>T	ENST00000347063.4	-	4	700	c.328G>A	c.(328-330)Ggg>Agg	p.G110R	RNF175_ENST00000274068.4_Intron|RNF175_ENST00000506505.1_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	110						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GAGAACATCCCCCACATAGAC	0.463000													39	36					0	0	1	0	0
REXO1L1	254958	broad.mit.edu	37	8	86573789	86573789	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:86573789G>C	ENST00000379010.2	-	1	1937	c.1938C>G	c.(1936-1938)tgC>tgG	p.C646W		NM_172239.4	NP_758439.4	Q8IX06	GOR_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1	646						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CCAGCTGCAGGCAGGCGCTTG	0.677000													5	108					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107097252	107097252	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:107097252A>C	ENST00000261058.1	+	1	1065	c.818A>C	c.(817-819)cAg>cCg	p.Q273P		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	273										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GAATTCATCCAGTGGCTTCTT	0.438000													37	15					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81711921	81711921	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:81711921G>T	ENST00000537098.3	+	10	1148	c.1076G>T	c.(1075-1077)tGc>tTc	p.C359F	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.C265F|CMIP_ENST00000398040.4_Missense_Mutation_p.C206F	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	325						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CGGAACGGCTGCCAGCAGCCG	0.637000													7	15					1.06961e-07	1.25656e-07	1	1	0
OR8H2	390151	broad.mit.edu	37	11	55872885	55872885	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:55872885T>C	ENST00000313503.1	+	1	367	c.367T>C	c.(367-369)Tat>Cat	p.Y123H		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CCATGATCGCTATGCAGCGAT	0.463000										HNSCC(53;0.14)			52	118					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724669	140724669	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:140724669C>T	ENST00000253812.6	+	1	1069	c.1069C>T	c.(1069-1071)Cca>Tca	p.P357S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTCAGTCCCAGAAGAGGG	0.473000													29	10					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704107	56704107	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:56704107C>G	ENST00000586855.2	-	2	628	c.315G>C	c.(313-315)aaG>aaC	p.K105N	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.K105N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	105	SCAN box.				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						CACCGTTCACCTTGACTAAGA	0.552000													16	22					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842196	123842196	+	Missense_Mutation	SNP	G	G	T	rs115572080		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:123842196G>T	ENST00000369005.1	+	4	521	c.181G>T	c.(181-183)Gct>Tct	p.A61S	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A61S|TACC2_ENST00000515273.1_Missense_Mutation_p.A61S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A61S|TACC2_ENST00000453444.2_Missense_Mutation_p.A61S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	61						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.A61T(1)		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)				CTTCTGCACCGCTTCTGAGAG	0.542000													34	39					1.22384e-17	1.64938e-17	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25430593	25430593	+	RNA	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:25430593G>C	ENST00000424208.1	+	0	454					NR_003305.1																						CCTCCAGATGGTGAGCACAGA	0.592000													7	6					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83173017	83173017	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:83173017C>G	ENST00000531015.1	-	21	2459	c.2435G>C	c.(2434-2436)tGa>tCa	p.*812S	DLG2_ENST00000376106.3_Intron|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000524982.1_Intron			Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCCCCTTTCTCACACTACCAG	0.413000													10	33					0	0	1	0	0
LINC00207	388910	broad.mit.edu	37	22	44966397	44966397	+	RNA	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:44966397G>C	ENST00000605505.1	+	0	175					NR_028409.1															lung(3)	3						TTAAAGAGGAGAATGGATGGT	0.493000													5	11					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113295255	113295255	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:113295255A>T	ENST00000362072.3	-	2	463	c.119T>A	c.(118-120)cTg>cAg	p.L40Q	DRD2_ENST00000355319.2_Missense_Mutation_p.L40Q|DRD2_ENST00000346454.3_Missense_Mutation_p.L40Q|DRD2_ENST00000542968.1_Missense_Mutation_p.L40Q|DRD2_ENST00000544518.1_Missense_Mutation_p.L40Q|DRD2_ENST00000538967.1_Missense_Mutation_p.L40Q	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	40				L -> R (in Ref. 7; AAB26819).	activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CAGGGTGAGCAGTGTGGCATA	0.587000													23	53					0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207814372	207814372	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:207814372G>C	ENST00000272852.3	+	2	146	c.100G>C	c.(100-102)Gac>Cac	p.D34H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	34					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		AGAGATTGTGGACAAGTCAGT	0.498000													22	12					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46701752	46701752	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr13:46701752T>G	ENST00000398576.2	-	19	2246	c.1858A>C	c.(1858-1860)Atg>Ctg	p.M620L	LCP1_ENST00000323076.2_Missense_Mutation_p.M620L|LCP1_ENST00000435666.2_Missense_Mutation_p.M189L			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	620	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CCTTTCCCCATGAGGCAGGCA	0.557000			T	BCL6	NHL								42	22					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62028832	62028832	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:62028832C>G	ENST00000435607.1	-	14	2881	c.2805G>C	c.(2803-2805)atG>atC	p.M935I	SCN4A_ENST00000578147.1_Missense_Mutation_p.M935I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	935					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCTCGGTGGGCATCTCCAGGT	0.602000													22	22					0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167786681	167786681	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:167786681G>A	ENST00000397829.4	-	8	1124	c.957C>T	c.(955-957)ccC>ccT	p.P319P	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	346						cytosol		p.P319P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CCTGTCTGGAGGGAGCGGCGT	0.537000													25	70					0	0	1	0	0
BSX	390259	broad.mit.edu	37	11	122848358	122848358	+	Nonstop_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:122848358C>A	ENST00000343035.2	-	3	749	c.701G>T	c.(700-702)tGa>tTa	p.*234L		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	0										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCTGGCGGCTCAGAGCACGTG	0.701000													12	29					4.3838e-07	5.07146e-07	1	1	0
CSPG4	1464	broad.mit.edu	37	15	75968495	75968495	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:75968495C>G	ENST00000308508.5	-	10	6457	c.6365G>C	c.(6364-6366)aGg>aCg	p.R2122T		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2122	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCCCCAGCCTCCCGTCCTC	0.736000													4	4					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651103	90651103	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:90651103A>G	ENST00000282146.4	+	2	1424	c.983A>G	c.(982-984)gAg>gGg	p.E328G		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	328						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)				ATCTCCATAGAGACAGACGGG	0.627000													30	68					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8825951	8825951	+	Silent	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr18:8825951A>T	ENST00000359865.3	+	15	4585	c.4443A>T	c.(4441-4443)ccA>ccT	p.P1481P	SOGA2_ENST00000306329.11_Silent_p.P1800P|SOGA2_ENST00000518815.1_Silent_p.P806P|SOGA2_ENST00000306285.7_Silent_p.P806P|SOGA2_ENST00000400050.3_Silent_p.P1440P|SOGA2_ENST00000517570.1_Silent_p.P1440P	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1791																	AGCTGGGCCCAGGCCAGGAAA	0.662000													33	13					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296890	28296890	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:28296890T>C	ENST00000284987.5	-	8	2396	c.2275A>G	c.(2275-2277)Aaa>Gaa	p.K759E	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	759	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGTCGAACTTTTATGTGGGTT	0.438000													16	53					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45490284	45490284	+	Splice_Site	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:45490284T>A	ENST00000331493.2	+	22	2833		c.e22+2		CTD-2026D20.2_ENST00000523101.1_RNA|EFCAB13_ENST00000517484.1_Splice_Site	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		ACGTCAGTGGTGAGCATTTTT	0.348000													11	18					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169798416	169798416	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:169798416C>G	ENST00000413811.2	+	11	1158	c.923C>G	c.(922-924)tCa>tGa	p.S308*	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Silent_p.L380L|C1orf112_ENST00000286031.6_Silent_p.L380L			Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	337								p.L380L(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATCTCTACTCAAAGCCGTTT	0.368000													4	23					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958001	61958001	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:61958001G>C	ENST00000332800.7	-	4	720	c.587C>G	c.(586-588)cCc>cGc	p.P196R	GH2_ENST00000423893.2_Intron|GH2_ENST00000449787.2_Intron|GH2_ENST00000456543.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						ATTCACGAGGGGAAATGAAGA	0.567000													84	59					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63829551	63829551	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:63829551T>C	ENST00000279873.7	+	8	1604	c.1194T>C	c.(1192-1194)taT>taC	p.Y398Y	ARID5B_ENST00000309334.5_Silent_p.Y155Y	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	398	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCAGACATTATGAAAGGTAAG	0.418000													4	15					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31521996	31521996	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:31521996G>T	ENST00000331075.5	+	2	1320	c.1271_splice	c.e2+1	p.R424_splice	INPP5J_ENST00000405300.1_Splice_Site_p.R57_splice|INPP5J_ENST00000404390.3_Intron|INPP5J_ENST00000412277.2_Splice_Site_p.R357_splice|INPP5J_ENST00000400294.2_Splice_Site_p.R57_splice			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	424						cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCCGGCTTCCGGTGAGGGGGC	0.602000													5	8					0.0215528	0.0223526	1	1	0
ZAP70	7535	broad.mit.edu	37	2	98341614	98341614	+	Silent	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:98341614T>A	ENST00000264972.5	+	4	677	c.462T>A	c.(460-462)gcT>gcA	p.A154A	ZAP70_ENST00000442208.1_Silent_p.A28A|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	154	Interdomain A.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AGCTCATTGCTACGACGGCCC	0.642000													23	29					0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363828	84363828	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:84363828C>G	ENST00000509231.1	-	1	226	c.147G>C	c.(145-147)atG>atC	p.M49I	SATL1_ENST00000395409.3_5'UTR|SATL1_ENST00000332921.5_5'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	104	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTGGTTGTTTCATGTCCACTT	0.453000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	9					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11514042	11514042	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:11514042C>A	ENST00000423059.3	-	8	2422	c.2171G>T	c.(2170-2172)gGg>gTg	p.G724V	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	724	TSP type-1 7.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGAGGCCTCCCCATTCCAAGT	0.522000										HNSCC(18;0.044)			5	60					0.248553	0.249965	1	1	0
BBS10	79738	broad.mit.edu	37	12	76740795	76740795	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:76740795C>A	ENST00000393262.3	-	2	1053	c.970G>T	c.(970-972)Ggg>Tgg	p.G324W		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	324					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CCATTCACCCCTGCATAATAA	0.368000									Bardet-Biedl syndrome				11	22					3.07112e-06	3.46971e-06	1	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43624937	43624937	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:43624937G>A	ENST00000332857.6	-	4	3778	c.3750C>T	c.(3748-3750)ttC>ttT	p.F1250F		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GTTCTGAGTAGAAGAGGTGCC	0.507000													144	248					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189495	50189495	+	Silent	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:50189495C>G	ENST00000335999.6	-	8	2349	c.2148G>C	c.(2146-2148)ctG>ctC	p.L716L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	712										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTAGCTGCTCCAGTGGCCTGT	0.647000													7	3					0	0	1	0	0
PPIL3	53938	broad.mit.edu	37	2	201747114	201747114	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:201747114T>C	ENST00000392283.4	-	4	391	c.123A>G	c.(121-123)atA>atG	p.I41M	PPIL3_ENST00000465823.1_Intron|PPIL3_ENST00000409361.1_Intron|PPIL3_ENST00000409449.1_Intron|PPIL3_ENST00000286175.8_Intron	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3	41	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(1)|lung(2)	3						TCCTATGAAATATACAGCCAT	0.358000													45	46					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072888	15072888	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:15072888G>A	ENST00000598504.1	-	8	2220	c.861C>T	c.(859-861)caC>caT	p.H287H	SLC1A6_ENST00000600144.1_Silent_p.H287H|SLC1A6_ENST00000221742.3_Silent_p.H287H|SLC1A6_ENST00000544886.2_Silent_p.H287H|SLC1A6_ENST00000430939.2_Silent_p.H223H	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	287					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)	CTCTGCCCTTGTGTTTCATGC	0.577000													34	62					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132052173	132052173	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:132052173G>A	ENST00000286355.5	-	1	2499	c.407C>T	c.(406-408)cCt>cTt	p.P136L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P136L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	136					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGAGTTGCTAGGGGCACAGTC	0.612000										HNSCC(32;0.087)			6	6					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61935290	61935290	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:61935290C>A	ENST00000577390.1	-	3	1294	c.340G>T	c.(340-342)Gta>Tta	p.V114L	CDH8_ENST00000299345.6_Missense_Mutation_p.V114L|CDH8_ENST00000584337.1_Missense_Mutation_p.V114L|CDH8_ENST00000577730.1_Missense_Mutation_p.V114L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	114	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTCCAGTTACATCATTTATT	0.423000													27	33					4.72057e-08	5.58268e-08	1	1	0
CAPZA3	93661	broad.mit.edu	37	12	18891436	18891436	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:18891436G>T	ENST00000317658.3	+	1	392	c.234G>T	c.(232-234)atG>atT	p.M78I		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	78					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACAATGTAATGGGCGACTACC	0.423000													22	37					1.28384e-07	1.50158e-07	1	1	0
EGR2	1959	broad.mit.edu	37	10	64573804	64573804	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:64573804G>A	ENST00000242480.3	-	2	919	c.594C>T	c.(592-594)tcC>tcT	p.S198S	EGR2_ENST00000439032.1_Silent_p.S198S|EGR2_ENST00000411732.1_Silent_p.S148S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	198					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGGCCAGAGAGGAAGAGGTGG	0.592000													62	12					0	0	1	0	0
ASB8	140461	broad.mit.edu	37	12	48543613	48543613	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:48543613G>A	ENST00000317697.3	-	4	572	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.R135W|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000539528.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	135					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						AGGAGAGCCCGCACACACTCA	0.527000													24	24					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155234999	155234999	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:155234999T>A	ENST00000424344.3	+	7	940	c.573T>A	c.(571-573)ttT>ttA	p.F191L	IL9R_ENST00000244174.5_Missense_Mutation_p.F212L|IL9R_ENST00000540897.1_Missense_Mutation_p.F237L|IL9R_ENST00000369423.2_Missense_Mutation_p.F247L			Q01113	IL9R_HUMAN	interleukin 9 receptor	212	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGAAGCCTTTGAGCTGGACC	0.587000													14	8					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113668482	113668482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:113668482G>A	ENST00000297405.5	-	18	3149	c.2905C>T	c.(2905-2907)Caa>Taa	p.Q969*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q969*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q865*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q929*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	969	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGGGCACTTGGGTGCCATTG	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	44					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761628	55761628	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:55761628G>C	ENST00000278409.1	-	1	473	c.474C>G	c.(472-474)gtC>gtG	p.V158V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGCTTGTGTTGACCATGAAGT	0.498000													22	37					0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110104001	110104001	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:110104001G>C	ENST00000343115.4	-	13	1867	c.1548C>G	c.(1546-1548)acC>acG	p.T516T	RDX_ENST00000544551.1_Silent_p.T380T|RDX_ENST00000528900.1_Silent_p.T169T|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Silent_p.T516T|RDX_ENST00000528498.1_Silent_p.T516T	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	516	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	p.T516T(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCTGTGTTTCGGTTACACGTT	0.363000													59	91					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106940	168106940	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:168106940C>G	ENST00000409195.1	+	9	9127	c.9038C>G	c.(9037-9039)aCa>aGa	p.T3013R	XIRP2_ENST00000295237.9_Missense_Mutation_p.T3013R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2791R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2838				T -> A (in Ref. 8; CAD91154).	actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAGAAATAACACATATTAAA	0.348000													28	54					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42745757	42745757	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:42745757G>C	ENST00000395568.2	+	3	227	c.143G>C	c.(142-144)aGc>aCc	p.S48T	PPHLN1_ENST00000449194.2_Missense_Mutation_p.S48T|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S48T|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.S66T|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S55T|PPHLN1_ENST00000337898.6_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	48					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GGTGAAGGAAGCTACAATAGA	0.403000													20	18					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41556727	41556727	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:41556727G>T	ENST00000263253.7	+	20	4890		c.e20+1			NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)|p.?(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGCCTCAAACGTAAGTAACTG	0.408000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				5	22					0.000602214	0.00064732	1	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95726843	95726843	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:95726843G>C	ENST00000324972.6	+	17	2069	c.1876G>C	c.(1876-1878)Gtg>Ctg	p.V626L	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V609L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V606L|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V589L|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V609L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	626					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAGGACCCTTGTGGAAATTCG	0.483000													21	31					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122345754	122345754	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:122345754C>A	ENST00000464300.2	+	9	1378	c.1312C>A	c.(1312-1314)Cca>Aca	p.P438T	PARP15_ENST00000483793.1_Intron|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Missense_Mutation_p.P204T|PARP15_ENST00000493645.1_Intron	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	416	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACATTCCACCCCATCATTAAA	0.348000													17	22					1.99824e-07	2.32689e-07	1	1	0
USP6NL	9712	broad.mit.edu	37	10	11523903	11523903	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:11523903G>A	ENST00000379237.1	-	14	1338	c.944C>T	c.(943-945)tCc>tTc	p.S315F	USP6NL_ENST00000277575.5_Missense_Mutation_p.S332F	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	315						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TTCTTCCATGGACAATTTCAT	0.328000													7	6					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502408	90502408	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:90502408G>C	ENST00000325643.5	+	4	3072	c.3006G>C	c.(3004-3006)gaG>gaC	p.E1002D		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CATGGCTTGAGAGTGAGAGCA	0.587000													24	28					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171076876	171076876	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:171076876A>G	ENST00000367755.4	+	4	493	c.382A>G	c.(382-384)Acc>Gcc	p.T128A	FMO3_ENST00000392085.2_Missense_Mutation_p.T128A|FMO3_ENST00000538429.1_Missense_Mutation_p.T65A|FMO3_ENST00000542847.1_Missense_Mutation_p.T108A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	128					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGGGATGTTACCACTGAAAG	0.398000													29	29					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41615637	41615637	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:41615637A>G	ENST00000313860.7	+	7	695	c.641A>G	c.(640-642)cAg>cGg	p.Q214R	LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q67R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q60R|LIMCH1_ENST00000509454.1_Missense_Mutation_p.Q62R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q60R|LIMCH1_ENST00000509638.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q60R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	214					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						CGCTCTCGGCAGACGCCTTCA	0.537000													13	29					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90572294	90572294	+	RNA	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:90572294A>T	ENST00000551025.1	+	0	2303							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GGACATCCTGAGAAATATGGT	0.398000													70	92					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46388991	46388991	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:46388991C>A	ENST00000302165.3	-	1	385	c.42G>T	c.(40-42)ctG>ctT	p.L14L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GCAGGTCGCACAGGTAGCACC	0.716000													3	22					1	1	1	1	0
PSG8	440533	broad.mit.edu	37	19	43262387	43262387	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:43262387C>A	ENST00000404209.4	-	3	572	c.476G>T	c.(475-477)aGg>aTg	p.R159M	PSG8_ENST00000406636.3_Missense_Mutation_p.R37M|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.R159M|PSG8_ENST00000401467.2_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	159	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CATGGCCTCCCTGGGGTTTAA	0.537000													97	132					1.39521e-32	2.04092e-32	1	1	0
NMRK2	27231	broad.mit.edu	37	19	3942091	3942091	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:3942091C>A	ENST00000168977.2	+	8	803	c.513C>A	c.(511-513)gaC>gaA	p.D171E	NMRK2_ENST00000593949.1_Missense_Mutation_p.D176E|NMRK2_ENST00000599576.1_Silent_p.R103R	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2																		TCTACCTGGACGGCATGAAGT	0.637000													23	15					9.80776e-20	1.35271e-19	1	1	0
TBX15	6913	broad.mit.edu	37	1	119474355	119474355	+	Silent	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:119474355A>T	ENST00000369429.3	-	2	315	c.306T>A	c.(304-306)ccT>ccA	p.P102P	TBX15_ENST00000207157.3_5'UTR			Q96SF7	TBX15_HUMAN	T-box 15	102						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAGCAGGCACAGGGCCTGCAG	0.532000													13	8					0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120947830	120947830	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:120947830T>C	ENST00000288532.6	-	4	711	c.671A>G	c.(670-672)cAc>cGc	p.H224R	COQ5_ENST00000445328.2_Missense_Mutation_p.H150R	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	224					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGATCAATGTGTGTGACATT	0.433000													22	32					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31747892	31747892	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:31747892G>A	ENST00000375663.3	-	26	3404	c.2964C>T	c.(2962-2964)cgC>cgT	p.R988R		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	988					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCAGGCGGCTGCGGATCCAGC	0.662000													26	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179644007	179644007	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:179644007C>A	ENST00000589042.1	-	23	4136	c.3912G>T	c.(3910-3912)gaG>gaT	p.E1304D	TTN_ENST00000359218.5_Missense_Mutation_p.E1258D|TTN_ENST00000342175.6_Missense_Mutation_p.E1258D|TTN_ENST00000591111.1_Missense_Mutation_p.E1304D|TTN_ENST00000460472.2_Missense_Mutation_p.E1258D|TTN_ENST00000342992.6_Missense_Mutation_p.E1304D|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E1304D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1304	Ig-like 5.						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)			CACCCATCCCCTCAAGAATTC	0.348000													13	26					0.000151284	0.000165975	1	1	0
MDN1	23195	broad.mit.edu	37	6	90453420	90453420	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:90453420T>A	ENST00000369393.3	-	30	4307	c.4192A>T	c.(4192-4194)Act>Tct	p.T1398S	MDN1_ENST00000428876.1_Missense_Mutation_p.T1398S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1398					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGACAGATAGTAGTTTTCCCA	0.463000													28	61					0	0	1	0	0
RAB3C	115827	broad.mit.edu	37	5	58120944	58120944	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:58120944C>T	ENST00000282878.4	+	4	620	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	151					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GGAAGACGAGCGGGTCATCTC	0.363000													25	4					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32429885	32429885	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:32429885A>C	ENST00000357033.4	-	30	4423	c.4217T>G	c.(4216-4218)aTg>aGg	p.M1406R	DMD_ENST00000378677.2_Missense_Mutation_p.M1402R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1406					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCCTGAGGCATTTGAGCTGC	0.403000													16	14					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42813696	42813696	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:42813696G>T	ENST00000398600.2	+	12	1809	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	MX1_ENST00000455164.2_Missense_Mutation_p.D262Y|MX1_ENST00000398598.3_Missense_Mutation_p.D262Y|MX1_ENST00000288383.6_Missense_Mutation_p.D239Y|AP001610.5_ENST00000411427.1_RNA	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	262					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CAAGGTTGTGGACGTGGTGCG	0.557000													16	72					2.32078e-09	2.82646e-09	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125192192	125192192	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:125192192G>A	ENST00000431078.1	+	5	1025	c.661G>A	c.(661-663)Gga>Aga	p.G221R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	221	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTGTTCCATGGAGAAGGTCA	0.507000													19	20					0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75512696	75512696	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:75512696C>T	ENST00000332272.4	-	3	1210	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R344H	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	344					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTCCTGCACGCGGCGGATCTT	0.657000													28	46					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49855411	49855411	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:49855411C>G	ENST00000376088.3	+	14	2869	c.2228C>G	c.(2227-2229)aCt>aGt	p.T743S	CLCN5_ENST00000376108.3_Missense_Mutation_p.T673S|CLCN5_ENST00000376091.3_Missense_Mutation_p.T743S|CLCN5_ENST00000307367.2_Missense_Mutation_p.T673S	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	673					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CCACCATACACTCCACCCACT	0.463000													11	8					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776571	13776571	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:13776571C>A	ENST00000265104.4	-	55	9454	c.9350G>T	c.(9349-9351)tGg>tTg	p.W3117L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3117	AAA 4 (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)					ATCTTTGGGCCATCGGCTGAA	0.458000									Kartagener syndrome				98	77					1.26289e-39	1.8576e-39	1	1	0
CPZ	8532	broad.mit.edu	37	4	8602934	8602934	+	Translation_Start_Site	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:8602934C>A	ENST00000382480.2	+	0	595				CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000360986.4_Nonsense_Mutation_p.S69*|CPZ_ENST00000315782.6_Nonsense_Mutation_p.S58*	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z						proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGCACCGGTCATGGGAGGTG	0.647000													8	35					1.76689e-08	2.11788e-08	1	1	0
GRSF1	2926	broad.mit.edu	37	4	71691068	71691068	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:71691068G>A	ENST00000254799.6	-	8	1455	c.1338C>T	c.(1336-1338)caC>caT	p.H446H	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Silent_p.H284H|GRSF1_ENST00000545193.1_Silent_p.H328H|GRSF1_ENST00000439371.1_Silent_p.H284H	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	446	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GGGTCTCAAAGTGCACATCAG	0.478000													11	12					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64603708	64603708	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:64603708C>T	ENST00000342711.5	-	13	1548	c.1549G>A	c.(1549-1551)Ggg>Agg	p.G517R		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	517					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCCTGCTGCCCCTGGGCCCTG	0.701000											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	9					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104465006	104465006	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:104465006C>A	ENST00000372578.3	-	2	187	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.A26S|TEX13A_ENST00000372575.1_Missense_Mutation_p.A26S|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	26						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GTGTGCCTGGCCATTTTCTCG	0.542000													18	8					3.51602e-12	4.50967e-12	1	1	0
PCDH1	5097	broad.mit.edu	37	5	141248204	141248204	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:141248204G>T	ENST00000287008.3	-	2	980	c.833C>A	c.(832-834)cCc>cAc	p.P278H	PCDH1_ENST00000503492.1_Missense_Mutation_p.P278H|PCDH1_ENST00000456271.1_Missense_Mutation_p.P266H|PCDH1_ENST00000536585.1_Missense_Mutation_p.P256H|PCDH1_ENST00000394536.3_Missense_Mutation_p.P278H	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	278	Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCAAACTTGGGGGCGTTGTC	0.607000													18	7					3.41278e-10	4.25396e-10	1	1	0
CCDC88C	440193	broad.mit.edu	37	14	91826003	91826003	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:91826003C>A	ENST00000389857.6	-	4	409	c.323G>T	c.(322-324)gGc>gTc	p.G108V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	108					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)				TGGGTCTCTGCCAATCATCAA	0.527000													5	9					0.184627	0.186737	1	1	0
PIEZO2	63895	broad.mit.edu	37	18	10689740	10689740	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr18:10689740G>T	ENST00000302079.6	-	45	7070	c.7071C>A	c.(7069-7071)gaC>gaA	p.D2357E	PIEZO2_ENST00000285141.4_Missense_Mutation_p.D212E|PIEZO2_ENST00000580640.1_Missense_Mutation_p.D2382E|PIEZO2_ENST00000538948.1_Missense_Mutation_p.D314E|PIEZO2_ENST00000503781.3_Missense_Mutation_p.D2357E			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2357						integral to membrane	ion channel activity										TCAAAGTTGTGTCCGTCCACA	0.537000													39	29					1.60099e-16	2.13599e-16	1	1	0
ZNF106	64397	broad.mit.edu	37	15	42742624	42742624	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:42742624C>G	ENST00000263805.4	-	2	2103	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TCAGATGTCTCTCCATCACTT	0.403000													7	99					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64973285	64973285	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:64973285G>A	ENST00000399262.2	-	8	2860	c.2642C>T	c.(2641-2643)tCt>tTt	p.S881F	JMJD1C_ENST00000402544.1_Missense_Mutation_p.S662F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S662F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S699F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	881					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AACCCACTTAGAAGAAGGCAA	0.393000													30	27					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82366944	82366944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:82366944C>A	ENST00000509081.1	-	7	996	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	RASGEF1B_ENST00000264400.2_Nonsense_Mutation_p.E260*|RASGEF1B_ENST00000335927.7_Nonsense_Mutation_p.E218*			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	260	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTAAACCATTCCACGTAAGCT	0.353000													6	25					0.248553	0.249965	1	1	0
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGGCAGCTCGTGGTGAGGC	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			29	14					8.88839e-20	1.2291e-19	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140176485	140176485	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:140176485C>T	ENST00000526136.1	+	1	1936	c.1936C>T	c.(1936-1938)Cgc>Tgc	p.R646C	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R646C|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R646C	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCGACACCGCCTACTCGT	0.642000													33	11					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540556	55540556	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:55540556C>A	ENST00000220676.1	+	4	4262	c.4114C>A	c.(4114-4116)Cta>Ata	p.L1372I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1372					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGAAAGATCTAAATATTTT	0.333000													42	39					2.6416e-12	3.39634e-12	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2812438	2812438	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:2812438A>T	ENST00000301740.8	+	11	2458	c.1909A>T	c.(1909-1911)Agt>Tgt	p.S637C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	637	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGGTCTCGTAGTAGATCACC	0.622000													5	82					0	0	1	0	0
TSPAN19	144448	broad.mit.edu	37	12	85408284	85408284	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:85408284T>C	ENST00000532498.2	-	9	809	c.729A>G	c.(727-729)atA>atG	p.I243M		NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	243						integral to membrane				ovary(1)	1						CTGCATGGATTATATTCTTGA	0.274000													9	20					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224463099	224463099	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:224463099G>C	ENST00000281701.6	-	17	2283	c.2024C>G	c.(2023-2025)cCc>cGc	p.P675R	NVL_ENST00000469075.1_Missense_Mutation_p.P584R|NVL_ENST00000482491.1_Missense_Mutation_p.P399R|NVL_ENST00000340871.4_Missense_Mutation_p.P486R|NVL_ENST00000391875.2_Missense_Mutation_p.P569R|NVL_ENST00000361463.3_Missense_Mutation_p.P569R	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	675						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TATCACACAGGGTGCTGAGTT	0.408000													28	50					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229573	7229573	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:7229573C>T	ENST00000379938.2	+	10	1778	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L	RREB1_ENST00000349384.6_Missense_Mutation_p.P414L|RREB1_ENST00000334984.6_Missense_Mutation_p.P414L|RREB1_ENST00000379933.3_Missense_Mutation_p.P414L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	414					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCCTGTCACCTTTCGAAGCT	0.592000													14	30					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11684444	11684444	+	Silent	SNP	G	G	A	rs143485595		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:11684444G>A	ENST00000262442.3	+	39	7739	c.7671G>A	c.(7669-7671)acG>acA	p.T2557T	DNAH9_ENST00000454412.2_Silent_p.T2557T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2557	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTACGGGACGGTGCAGCCCC	0.552000													8	22					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80398881	80398881	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:80398881G>C	ENST00000337014.6	+	10	1465	c.991G>C	c.(991-993)Gat>Cat	p.D331H	HEXDC_ENST00000327949.9_Missense_Mutation_p.D331H|HEXDC_ENST00000577944.1_Missense_Mutation_p.D331H	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	331					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGGAGGATTTGATGAAGATGT	0.572000													123	130					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113222881	113222881	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:113222881A>T	ENST00000393020.1	+	16	1803	c.1398A>T	c.(1396-1398)agA>agT	p.R466S	TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000529221.1_Missense_Mutation_p.R466S|TTC12_ENST00000483239.2_Missense_Mutation_p.R472S|TTC12_ENST00000314756.3_Missense_Mutation_p.R466S			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	466							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CTACCCGAAGACACATGGCGG	0.498000													24	31					0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5783178	5783178	+	Silent	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:5783178C>G	ENST00000419421.2	-	3	1184	c.1080G>C	c.(1078-1080)gcG>gcC	p.A360A		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	358										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CCTCGTCGAGCGCCTTGAAGT	0.632000													31	42					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103379927	103379927	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:103379927G>A	ENST00000358392.2	-	52	4312	c.3995C>T	c.(3994-3996)cCt>cTt	p.P1332L	COL11A1_ENST00000370096.3_Missense_Mutation_p.P1320L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1204L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1281L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1320	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)		AGGTTCCCCAGGAGGACCAGG	0.323000													4	13					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753519	13753519	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:13753519C>A	ENST00000265104.4	-	63	10799	c.10695G>T	c.(10693-10695)gaG>gaT	p.E3565D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3565					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)					CAATCAACATCTCACTGAGAT	0.403000									Kartagener syndrome				36	103					5.71845e-15	7.57231e-15	1	1	0
DHX8	1659	broad.mit.edu	37	17	41582089	41582089	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:41582089G>T	ENST00000262415.3	+	12	1696	c.1624G>T	c.(1624-1626)Gcc>Tcc	p.A542S	DHX8_ENST00000540306.1_Missense_Mutation_p.A542S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	542						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GAAGAAGCATGCCTTTGGGGG	0.493000													63	113					5.82218e-30	8.44693e-30	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110520439	110520439	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:110520439C>A	ENST00000378402.5	+	70	11445	c.11341C>A	c.(11341-11343)Cga>Aga	p.R3781R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3781					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.R3785R(1)		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)			CACAGAAACTCGAAGACTTTC	0.393000										HNSCC(38;0.096)			23	150					1.85244e-09	2.2717e-09	1	1	0
CHTF18	63922	broad.mit.edu	37	16	845787	845787	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:845787G>C	ENST00000317063.6	+	19	2905	c.2905G>C	c.(2905-2907)Gat>Cat	p.D969H	CHTF18_ENST00000262315.9_Missense_Mutation_p.D760H|CHTF18_ENST00000455171.2_Missense_Mutation_p.D788H			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	760					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCTGCTCCTCGATGCCCTCTG	0.692000													3	19					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404461	10404461	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:10404461A>G	ENST00000226207.5	-	27	3798	c.3704T>C	c.(3703-3705)cTt>cCt	p.L1235P	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1235						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						GTTACTAGCAAGGTCATCGAT	0.438000													16	66					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50784907	50784907	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:50784907T>G	ENST00000433963.1	+	16	2744	c.2244T>G	c.(2242-2244)tgT>tgG	p.C748W	USP8_ENST00000425032.3_Missense_Mutation_p.C642W|USP8_ENST00000396444.3_Missense_Mutation_p.C748W|USP8_ENST00000307179.4_Missense_Mutation_p.C748W	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	748					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGCCAACATGTTATCCTAAAG	0.408000													7	34					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228400265	228400265	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:228400265G>C	ENST00000570156.2	+	2	855	c.781G>C	c.(781-783)Gtg>Ctg	p.V261L	OBSCN_ENST00000422127.1_Missense_Mutation_p.V261L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.V261L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	261	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCTGCTACGTGACCGGCGA	0.711000													27	25					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840969	142840969	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:142840969G>C	ENST00000309575.3	+	2	2695	c.1311G>C	c.(1309-1311)cgG>cgC	p.R437R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	437					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						AGACACTACGGAGAGTGTACG	0.612000													15	26					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41803370	41803370	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:41803370C>G	ENST00000263800.6	-	7	1085	c.989G>C	c.(988-990)gGc>gCc	p.G330A	LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Intron|LTK_ENST00000453182.2_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	330					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		ACCCCTGTAgccgccgccgcc	0.731000										TSP Lung(18;0.14)			4	2					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5961316	5961316	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:5961316G>C	ENST00000531445.1	-	7	2085	c.2039C>G	c.(2038-2040)aCg>aGg	p.T680R	C4orf50_ENST00000324058.5_Missense_Mutation_p.T206R			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	206										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGCCAGGCACGTTCCAGGATC	0.562000													10	18					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370284	35370284	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:35370284T>G	ENST00000373347.1	-	3	969	c.701A>C	c.(700-702)cAc>cCc	p.H234P	DLGAP3_ENST00000235180.4_Missense_Mutation_p.H234P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	234	Poly-His.				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)				CCGGGACtggtggtggtggtg	0.652000													45	30					0	0	1	0	0
BCAS2	10286	broad.mit.edu	37	1	115110808	115110808	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:115110808A>C	ENST00000369541.3	-	7	668	c.621T>G	c.(619-621)taT>taG	p.Y207*	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	207					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-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)		GCTTAATTTGATAGATTTCAT	0.373000													35	96					0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37989816	37989816	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:37989816G>C	ENST00000199448.4	+	3	872	c.493G>C	c.(493-495)Ggc>Cgc	p.G165R	EPDR1_ENST00000425345.1_Missense_Mutation_p.G104R|EPDR1_ENST00000559325.1_Missense_Mutation_p.G285R|EPDR1_ENST00000476620.1_Missense_Mutation_p.G63R|EPDR1_ENST00000423717.1_3'UTR	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	165					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AACCTGGATTGGCATCTATAC	0.358000													5	20					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923360	9923360	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:9923360C>A	ENST00000396573.2	-	10	2236	c.1927G>T	c.(1927-1929)Gct>Tct	p.A643S	GRIN2A_ENST00000535259.1_Missense_Mutation_p.A486S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A643S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A643S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A643S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A643S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	643					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	p.A643S(1)		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)	GTGTAGCTAGCCAGGAATATG	0.507000													40	11					4.32679e-17	5.81652e-17	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618402	77618402	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:77618402G>C	ENST00000521891.2	+	2	2527	c.2079G>C	c.(2077-2079)acG>acC	p.T693T	ZFHX4_ENST00000455469.2_Silent_p.T693T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.T693T|ZFHX4_ENST00000050961.6_Silent_p.T693T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	693						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAGTTACACGTGTGGCTATA	0.507000										HNSCC(33;0.089)			8	36					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	870640	870640	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:870640C>T	ENST00000323510.4	-	11	1184	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S	BRD9_ENST00000483173.1_Silent_p.S438S|BRD9_ENST00000388890.4_Silent_p.S375S|BRD9_ENST00000467963.1_Silent_p.S491S			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	491							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGGACTTCATCGACATGAACT	0.493000													9	53					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189855056	189855056	+	Silent	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:189855056A>T	ENST00000304636.3	+	10	938	c.768A>T	c.(766-768)atA>atT	p.I256I	COL3A1_ENST00000317840.5_Silent_p.I256I	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	256	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)	CAGCTGGGATACCTGGATTCC	0.343000													12	9					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73151799	73151799	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:73151799C>A	ENST00000377110.2	-	25	4437	c.4194G>T	c.(4192-4194)tcG>tcT	p.S1398S	TRPM3_ENST00000423814.3_Silent_p.S1425S|TRPM3_ENST00000396280.5_Silent_p.S1247S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377106.1_Silent_p.S1270S|TRPM3_ENST00000396292.4_Silent_p.S1270S|TRPM3_ENST00000357533.2_Silent_p.S1402S|TRPM3_ENST00000358082.3_Silent_p.S1260S|TRPM3_ENST00000377105.1_Silent_p.S1257S|TRPM3_ENST00000396285.1_Silent_p.S1257S|TRPM3_ENST00000408909.2_Silent_p.S1257S|TRPM3_ENST00000360823.2_Silent_p.S1260S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1423						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGTCTATACACGATGATGGTC	0.507000													33	44					1.30988e-24	1.85975e-24	1	1	0
H1FOO	132243	broad.mit.edu	37	3	129270168	129270168	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:129270168G>C	ENST00000324382.2	+	5	1031	c.1026G>C	c.(1024-1026)caG>caC	p.Q342H	H1FOO_ENST00000503977.1_Missense_Mutation_p.Q203H	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	342					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						TGTCCAGCCAGAGGGCTGAAG	0.537000													8	21					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809393	5809393	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:5809393G>A	ENST00000317078.1	-	1	653	c.654C>T	c.(652-654)atC>atT	p.I218I	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TAGTGTAGGAGATTGTAATGC	0.478000													18	28					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75851967	75851967	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:75851967T>A	ENST00000356136.3	+	15	1851	c.1610T>A	c.(1609-1611)aTg>aAg	p.M537K	UVRAG_ENST00000539288.1_Missense_Mutation_p.M165K|UVRAG_ENST00000538870.1_Missense_Mutation_p.M93K|UVRAG_ENST00000532130.1_Missense_Mutation_p.M165K|UVRAG_ENST00000531818.1_Missense_Mutation_p.M165K|UVRAG_ENST00000533454.1_Missense_Mutation_p.M165K|UVRAG_ENST00000528420.1_Missense_Mutation_p.M436K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	537					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GTCCCCTCCATGGGAGAGACC	0.498000													16	23					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430101	43430101	+	RNA	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:43430101G>A	ENST00000446844.3	-	0	1156				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GTTAGAGTCCGCAAAGCAGGA	0.448000													88	143					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167298000	167298000	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:167298000T>C	ENST00000409855.1	-	14	2189	c.2063A>G	c.(2062-2064)gAg>gGg	p.E688G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	688					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTCTACCCACTCTCCACAGAG	0.448000													20	28					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608601	4608601	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:4608601A>T	ENST00000312614.4	+	1	581	c.559A>T	c.(559-561)Act>Tct	p.T187S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATAGCCATAACTCCACTGAG	0.488000													31	41					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121400619	121400619	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:121400619G>C	ENST00000393667.3	-	15	8898	c.8788C>G	c.(8788-8790)Caa>Gaa	p.Q2930E	GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q2925E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2925					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTCTTATCTTGATACTCCTGA	0.408000													14	33					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26492364	26492364	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:26492364G>A	ENST00000381340.3	-	57	8488	c.8072C>T	c.(8071-8073)aCa>aTa	p.T2691I	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2691					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)					CACATGGGGTGTGTTTGATCC	0.483000													12	17					0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61995813	61995813	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:61995813G>C	ENST00000323322.5	-	2	106	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E	GH1_ENST00000342364.4_Missense_Mutation_p.Q22E|GH1_ENST00000458650.2_Missense_Mutation_p.Q22E|GH1_ENST00000351388.4_Missense_Mutation_p.Q22E|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	22					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CTGCCCTCTTGAAGCCAGGGC	0.612000													6	188					0	0	1	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55258838	55258838	+	Splice_Site	SNP	G	G	T	rs142072295		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:55258838G>T	ENST00000342376.3	+	5	746		c.e5+1		KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCCGAAACCGGTGAGTACAGA	0.507000													23	56					9.9998e-32	1.45876e-31	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1272821	1272821	+	Missense_Mutation	SNP	G	G	C	rs56353324		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:1272821G>C	ENST00000447027.1	+	31	14778	c.14720G>C	c.(14719-14721)cGc>cCc	p.R4907P	MUC5B_ENST00000529681.1_Missense_Mutation_p.R4904P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4904	Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACCACCCGCACCCCTGCA	0.652000													12	20					0	0	1	0	0
CEMP1	752014	broad.mit.edu	37	16	2580999	2580999	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:2580999G>C	ENST00000382350.1	-	1	421	c.76C>G	c.(76-78)Ctc>Gtc	p.L26V	AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.L26V|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Missense_Mutation_p.L26V			Q6PRD7	CEMP1_HUMAN	cementum protein 1	26						cytoplasm				lung(1)|skin(1)	2						AGGCAGGTGAGGTTCTCAGCC	0.627000													6	21					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305531	54305531	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:54305531C>T	ENST00000545554.1	+	1	431	c.431C>T	c.(430-432)tCa>tTa	p.S144L	UNC13C_ENST00000537900.1_Missense_Mutation_p.S144L|UNC13C_ENST00000260323.11_Missense_Mutation_p.S144L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	144					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)		CAGGCACAATCAACACACACA	0.458000													4	26					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14883255	14883255	+	Silent	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:14883255T>A	ENST00000398334.1	-	3	645	c.378A>T	c.(376-378)ctA>ctT	p.L126L	FANCB_ENST00000324138.3_Silent_p.L126L	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	126					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TCTCATAGCCTAGTTTAAAAC	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	6					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129003419	129003419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:129003419C>T	ENST00000326639.6	+	5	528	c.317C>T	c.(316-318)gCa>gTa	p.A106V	LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Missense_Mutation_p.A106V|LARP1B_ENST00000432347.2_Missense_Mutation_p.A106V|LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000441387.1_Missense_Mutation_p.A106V|LARP1B_ENST00000394288.3_Missense_Mutation_p.A106V|LARP1B_ENST00000427266.1_Missense_Mutation_p.A106V	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	106							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CAACCTGAAGCAAATAAACCA	0.388000													18	32					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570267	248570267	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:248570267C>T	ENST00000366474.1	+	1	972	c.972C>T	c.(970-972)ctC>ctT	p.L324L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|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;0.0265)			ACAAAGTCCTCTCTGTGTTTT	0.527000													35	87					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172376917	172376917	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:172376917G>A	ENST00000358155.4	+	21	2704	c.2528G>A	c.(2527-2529)aGa>aAa	p.R843K	DNM3_ENST00000367731.1_Missense_Mutation_p.R839K|PIGC_ENST00000484368.1_Intron|DNM3_ENST00000355305.5_Missense_Mutation_p.R849K	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	849					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCTAGCCGGAGACCACCCCCA	0.433000													22	72					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449435	179449435	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:179449435G>T	ENST00000589042.1	-	310	65157	c.64933C>A	c.(64933-64935)Cct>Act	p.P21645T	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12705T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12772T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P20004T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12580T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P19077T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20004	Fibronectin type-III 57.						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)			GATGTGAGAGGCTCTGAAATG	0.433000													72	141					9.35569e-46	1.37996e-45	1	1	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41106957	41106957	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:41106957C>T	ENST00000421990.2	-	14	1756	c.1411G>A	c.(1411-1413)Gct>Act	p.A471T	PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.A380T|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.A471T|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.A410T|AARSD1_ENST00000427569.2_Missense_Mutation_p.A297T	NM_001136042.2	NP_001129514.2																					ATGTGCACAGCCAGGTCTCTG	0.468000													19	29					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228566495	228566495	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:228566495G>A	ENST00000570156.2	+	116	26845	c.26771G>A	c.(26770-26772)tGa>tAa	p.*8924*	OBSCN_ENST00000422127.1_Silent_p.*7969*|OBSCN_ENST00000366707.4_Silent_p.*5603*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGTGCGCTGAGGGTCGCCC	0.667000													12	8					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72345427	72345427	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:72345427G>T	ENST00000389916.4	+	10	1290	c.1152G>T	c.(1150-1152)gaG>gaT	p.E384D		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	384					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGATTGATGAGCAGACTGGGC	0.652000													18	21					1.01871e-10	1.27881e-10	1	1	0
ATP10A	57194	broad.mit.edu	37	15	25959330	25959330	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:25959330C>A	ENST00000356865.6	-	10	1946	c.1835G>T	c.(1834-1836)aGg>aTg	p.R612M		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	612					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGTGTGAACCTCCGCAGGAA	0.597000													4	29					0.000602214	0.00064732	1	1	0
SPOPL	339745	broad.mit.edu	37	2	139316872	139316872	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:139316872G>T	ENST00000280098.4	+	7	1058	c.679G>T	c.(679-681)Gcc>Tcc	p.A227S		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	227	BTB.					nucleus		p.A227T(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGTTTTTAACGCCATGTTTGA	0.289000													9	19					0.0477658	0.0491543	1	1	0
EHD4	30844	broad.mit.edu	37	15	42193002	42193002	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:42193002C>A	ENST00000220325.4	-	6	1550	c.1467G>T	c.(1465-1467)aaG>aaT	p.K489N		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	489	EF-hand.|EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		AGTCGGCCAGCTTCCAGATCT	0.582000													19	13					7.45023e-12	9.50978e-12	1	1	0
NEXN	91624	broad.mit.edu	37	1	78408200	78408200	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:78408200G>C	ENST00000330010.8	+	12	1819	c.1522G>C	c.(1522-1524)Gaa>Caa	p.E508Q	NEXN_ENST00000457030.1_Missense_Mutation_p.E558Q|NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000334785.7_Missense_Mutation_p.E572Q	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	572	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CTCCACTGCTGAAGATGAAGA	0.403000													14	36					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46973106	46973106	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:46973106C>A	ENST00000264318.3	-	7	1850	c.868G>T	c.(868-870)Gta>Tta	p.V290L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	290					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTACCAAATACAGTCCTAGCG	0.318000													7	23					0.0293803	0.0303521	1	1	0
MGAT4C	25834	broad.mit.edu	37	12	86383257	86383257	+	Missense_Mutation	SNP	C	C	A	rs145205649		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:86383257C>A	ENST00000604798.1	-	6	1272	c.68G>T	c.(67-69)cGt>cTt	p.R23L	MGAT4C_ENST00000549405.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000552435.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R52L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R23L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R23L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	23					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACTGTAGAACGTTTTCTCAG	0.323000													11	10					0.0692343	0.0708351	1	1	0
SEMA3E	9723	broad.mit.edu	37	7	82996929	82996929	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:82996929G>A	ENST00000307792.3	-	17	2768	c.2301C>T	c.(2299-2301)cgC>cgT	p.R767R	SEMA3E_ENST00000427262.1_Silent_p.R707R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	767	Arg/Lys-rich (basic).				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCCTGGGCAGGCGGTAATGCT	0.423000													54	92					0	0	1	0	0
HRASLS	57110	broad.mit.edu	37	3	192980984	192980984	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:192980984T>C	ENST00000264735.2	+	3	774	c.680T>C	c.(679-681)tTt>tCt	p.F227S	HRASLS_ENST00000602513.1_Missense_Mutation_p.F122S	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	122										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		TGTGAACATTTTGTGACATTG	0.398000													20	49					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535491	169535491	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:169535491C>T	ENST00000449804.2	+	2	773	c.728C>T	c.(727-729)gCg>gTg	p.A243V	FOXI1_ENST00000306268.6_Missense_Mutation_p.A338V	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	338			P -> S (in dbSNP:rs35678180).		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	p.A338V(1)		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)			GGTGACTGGGCGAACCCCATG	0.577000									Pendred syndrome				24	14					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17962285	17962285	+	Silent	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:17962285A>G	ENST00000381254.2	+	14	2020	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	GEN1_ENST00000317402.7_Silent_p.Q602Q|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	602					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAGCTATTCAAAGGAATACTT	0.373000								Homologous recombination					19	35					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793083	21793083	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:21793083T>A	ENST00000206660.6	+	14	2069	c.2069T>A	c.(2068-2070)tTc>tAc	p.F690Y	RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.F49Y|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.F690Y|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.F652Y			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	690					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GATTCGCTTTTCTTACACTAC	0.507000													69	86					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7456772	7456772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:7456772G>T	ENST00000486284.1	+	5	1370	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	GRM7_ENST00000357716.4_Nonsense_Mutation_p.E366*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.E366*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.E366*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.E366*	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	366					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)	ATGGTTTGCCGAATACTGGGA	0.408000													15	11					8.60227e-14	1.12231e-13	1	1	0
RAG2	5897	broad.mit.edu	37	11	36615385	36615385	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:36615385T>C	ENST00000311485.3	-	2	495	c.334A>G	c.(334-336)Att>Gtt	p.I112V		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	112					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTGCAAACAATAGACATGACA	0.393000									Familial Hemophagocytic Lymphohistiocytosis				25	57					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196645186	196645186	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:196645186A>T	ENST00000367429.4	+	4	658	c.418A>T	c.(418-420)Ata>Tta	p.I140L	CFH_ENST00000439155.2_Missense_Mutation_p.I140L|CFH_ENST00000359637.2_Missense_Mutation_p.I140L	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	140	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGATATTCCTATATGTGAAGG	0.274000													18	29					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112172686	112172686	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:112172686G>A	ENST00000412145.1	-	10	3483	c.930C>T	c.(928-930)tcC>tcT	p.S310S	PTPN3_ENST00000446349.1_Silent_p.S265S|PTPN3_ENST00000262539.3_Silent_p.S287S|PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000374541.2_Silent_p.S441S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	441	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GATTGTTCTCGGATAAACTCC	0.488000													33	62					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84639319	84639319	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:84639319C>T	ENST00000286744.5	+	20	2798	c.2574C>T	c.(2572-2574)ctC>ctT	p.L858L	ADAMTSL3_ENST00000567476.1_Silent_p.L858L|ADAMTSL3_ENST00000567716.1_3'UTR	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	858	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCATCCCCCTCAGTGAGATGA	0.527000													4	67					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279309	114279309	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:114279309G>A	ENST00000357077.4	+	38	9588	c.9535G>A	c.(9535-9537)Gca>Aca	p.A3179T	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A3146T|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3146					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGATGATGAGGCAGACTTACT	0.478000													20	22					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155255066	155255066	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:155255066A>C	ENST00000368358.3	+	5	1208	c.1200A>C	c.(1198-1200)gaA>gaC	p.E400D	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	400						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGATGAGGAAAGCATCCTGG	0.622000													31	28					0	0	1	0	0
IGHD5-24	28489	broad.mit.edu	37	14	106349775	106349775	+	RNA	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:106349775C>T	ENST00000390569.1	-	0	5																											TTGTAGCCATCTCTACCACGG	0.622000													19	47					0	0	1	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794793	18794793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:18794793G>T	ENST00000377428.2	+	1	424	c.334G>T	c.(334-336)Gag>Tag	p.E112*	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		TACAATCCCGGAGTCTGTCTT	0.507000													10	30					0.000442599	0.000479633	1	1	0
HTR3A	3359	broad.mit.edu	37	11	113860189	113860189	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:113860189A>T	ENST00000504030.2	+	9	1586	c.1141A>T	c.(1141-1143)Atg>Ttg	p.M381L	HTR3A_ENST00000299961.5_Missense_Mutation_p.M366L|HTR3A_ENST00000355556.2_Missense_Mutation_p.M419L|HTR3A_ENST00000535865.1_Missense_Mutation_p.M125L|HTR3A_ENST00000375498.2_Missense_Mutation_p.M387L|HTR3A_ENST00000506841.2_Missense_Mutation_p.M413L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	381					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCTTCCAGCCATGGGAAACCA	0.587000													34	73					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48839755	48839755	+	Splice_Site	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:48839755T>A	ENST00000314191.2	-	21	2474	c.2419_splice	c.e21+1	p.S806_splice	PRKDC_ENST00000338368.3_Splice_Site_p.S806_splice|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	806					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAACATTACCTGACAAGGCTG	0.343000								Non-homologous end-joining					13	21					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139418283	139418283	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:139418283G>C	ENST00000277541.6	-	3	364	c.289C>G	c.(289-291)Ctc>Gtc	p.L97V	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	97	EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCAGGCAGAGGGGCCCAGAG	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			13	13					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967926	87967926	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:87967926G>C	ENST00000369577.3	+	8	4622	c.4579G>C	c.(4579-4581)Gtg>Ctg	p.V1527L	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1522L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAATGCAACGGTGATGCCAAA	0.463000													7	9					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465411	51465411	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:51465411C>G	ENST00000374095.5	-	7	1170	c.1045G>C	c.(1045-1047)Ggt>Cgt	p.G349R		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	349	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						ATGGAGTCACCCAGCCCGGTG	0.547000													29	104					0	0	1	0	0
SERHL	94009	broad.mit.edu	37	22	42896698	42896698	+	RNA	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:42896698G>A	ENST00000359906.2	+	0	103					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						CGCCGCACCAGGTCGCCTTAG	0.647000													7	23					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168475987	168475987	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:168475987T>C	ENST00000283309.6	-	2	306	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	FRMD1_ENST00000440994.2_Missense_Mutation_p.Q13R	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	81	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCACACTTGCTGGAAAAGCTC	0.612000													11	31					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24339681	24339681	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:24339681G>T	ENST00000175238.6	+	9	815	c.732G>T	c.(730-732)gtG>gtT	p.V244V	ADAM7_ENST00000520720.1_Silent_p.V16V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.V244V	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	244	Peptidase M12B.		V -> M (in dbSNP:rs13255694).		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)		ACATCCATGTGACGTTGGTTG	0.294000													5	19					0.184627	0.186737	1	1	0
INTS7	25896	broad.mit.edu	37	1	212118150	212118150	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:212118150C>G	ENST00000366994.3	-	19	2681	c.2577G>C	c.(2575-2577)caG>caC	p.Q859H	INTS7_ENST00000440600.2_Missense_Mutation_p.Q810H|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.Q839H|INTS7_ENST00000366993.3_Missense_Mutation_p.Q845H	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	859					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CAGATTTACTCTGCAGTGTGG	0.418000													5	74					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	56					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904200	144904200	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:144904200C>A	ENST00000370490.1	+	1	4512	c.257C>A	c.(256-258)tCc>tAc	p.S86Y	SLITRK2_ENST00000447897.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S86Y			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	86						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GTCAATTACTCCAACGCGGTG	0.473000													28	18					0.144211	0.146979	1	1	0
AFF3	3899	broad.mit.edu	37	2	100209885	100209885	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:100209885G>A	ENST00000317233.4	-	14	2473	c.2238C>T	c.(2236-2238)gtC>gtT	p.V746V	AFF3_ENST00000409579.1_Silent_p.V771V|AFF3_ENST00000409236.1_Silent_p.V746V|AFF3_ENST00000356421.2_Silent_p.V771V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	746					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						GGCCAAAGGGGACCAGTGTGT	0.587000													29	37					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141006849	141006849	+	Splice_Site	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:141006849G>A	ENST00000277549.5	+	40	5579		c.e40-1		CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371365.2_Splice_Site|CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000371372.1_Splice_Site			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCTGGTGCAGCTGGGACAAA	0.572000													19	31					0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32370924	32370924	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:32370924G>T	ENST00000454136.3	-	3	501	c.497C>A	c.(496-498)gCa>gAa	p.A166E	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.A166E|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000544175.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	166	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCAGCCCCTTGCAGTGCACAC	0.602000													6	17					2.0095e-06	2.28489e-06	1	1	0
HPGD	3248	broad.mit.edu	37	4	175416710	175416710	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:175416710G>A	ENST00000296522.6	-	5	933	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	HPGD_ENST00000541923.1_Missense_Mutation_p.R42C|HPGD_ENST00000510901.1_Missense_Mutation_p.R42C|HPGD_ENST00000296521.7_Missense_Mutation_p.R163C|HPGD_ENST00000422112.2_Missense_Mutation_p.R95C|HPGD_ENST00000542498.1_Intron	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	163					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	GCTGCTGAGCGTGTGAATCCA	0.403000													7	23					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638879	176638879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:176638879G>A	ENST00000439151.2	+	5	3524	c.3479G>A	c.(3478-3480)tGg>tAg	p.W1160*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.W891*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.W1057*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.W891*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1160					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAAAGCGGTGGCAGCGTTTA	0.433000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			22	6					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107836287	107836287	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:107836287T>C	ENST00000379028.3	-	15	1851	c.1381A>G	c.(1381-1383)Aac>Gac	p.N461D	NRCAM_ENST00000413765.2_Missense_Mutation_p.N442D|NRCAM_ENST00000379022.4_Missense_Mutation_p.N461D|NRCAM_ENST00000425651.2_Missense_Mutation_p.N461D|NRCAM_ENST00000379024.4_Missense_Mutation_p.N442D|NRCAM_ENST00000351718.4_Missense_Mutation_p.N455D			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	461	Ig-like 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TAGAGTGTGTTTGCAGGTGTG	0.403000													7	13					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166532981	166532981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:166532981G>T	ENST00000314499.7	+	6	944	c.568G>T	c.(568-570)Gga>Tga	p.G190*	CSRNP3_ENST00000342316.4_Nonsense_Mutation_p.G190*|CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.G222*	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	190					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCGTGCCTCTGGAGTGAAAAA	0.493000													71	108					6.00099e-30	8.68263e-30	1	1	0
CELF2	10659	broad.mit.edu	37	10	11330515	11330515	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:11330515G>T	ENST00000379261.4	+	9	1047	c.955_splice	c.e9+1	p.V319_splice	CELF2_ENST00000399850.3_Splice_Site_p.V295_splice|CELF2_ENST00000427450.1_Splice_Site_p.V295_splice|CELF2_ENST00000354440.2_Splice_Site_p.V295_splice|CELF2_ENST00000537122.1_Splice_Site_p.V208_splice|CELF2_ENST00000542579.1_Splice_Site_p.V326_splice|CELF2_ENST00000354897.3_Splice_Site_p.V295_splice|CELF2_ENST00000417956.2_Splice_Site_p.V295_splice|CELF2_ENST00000416382.2_Splice_Site_p.V319_splice|CELF2_ENST00000315874.3_Splice_Site_p.V295_splice|CELF2_ENST00000450189.1_Splice_Site_p.V326_splice	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	319	Ala-rich.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CACGAGTCCCGGTGAGTGTGG	0.652000													7	10					0.00198382	0.00210681	1	1	0
OR4X2	119764	broad.mit.edu	37	11	48266803	48266803	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:48266803C>A	ENST00000302329.3	+	1	196	c.148C>A	c.(148-150)Ccc>Acc	p.P50T		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P50T(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CCTTGGTTCCCCCATGTACTT	0.488000													20	52					4.63292e-17	6.21233e-17	1	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819840	159819840	+	RNA	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:159819840T>C	ENST00000497452.1	-	0	517																											TTATGGGCCCTACGGTTCTTA	0.413000													14	54					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272616	139272616	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:139272616C>A	ENST00000298532.2	-	21	4031	c.3663G>T	c.(3661-3663)acG>acT	p.T1221T		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1221	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGGACCCCGGCGTCCCCCTTG	0.706000													6	7					2.7689e-08	3.31145e-08	1	1	0
HERC1	8925	broad.mit.edu	37	15	63970261	63970261	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:63970261T>C	ENST00000443617.2	-	37	6940	c.6853A>G	c.(6853-6855)Agg>Ggg	p.R2285G	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2285					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGCCATGCCTAGTATGTTTA	0.512000													3	29					0	0	1	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													4	118					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197391036	197391036	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:197391036G>A	ENST00000367397.1	+	2	1079	c.221G>A	c.(220-222)aGt>aAt	p.S74N	CRB1_ENST00000544212.1_Missense_Mutation_p.S174N|CRB1_ENST00000367400.3_Missense_Mutation_p.S693N|CRB1_ENST00000535699.1_Missense_Mutation_p.S624N|CRB1_ENST00000367399.2_Missense_Mutation_p.S581N|CRB1_ENST00000538660.1_Missense_Mutation_p.S693N|CRB1_ENST00000543483.1_3'UTR			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	693	EGF-like 2.				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						TTGTGGCTGAGTTACCAGTGT	0.517000													25	20					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84371301	84371301	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:84371301T>C	ENST00000428679.2	-	5	965	c.372A>G	c.(370-372)atA>atG	p.I124M	SNAP91_ENST00000521485.1_Missense_Mutation_p.I124M|SNAP91_ENST00000521743.1_Missense_Mutation_p.I124M|SNAP91_ENST00000439399.2_Missense_Mutation_p.I124M|SNAP91_ENST00000195649.6_Missense_Mutation_p.I124M|SNAP91_ENST00000520302.1_Missense_Mutation_p.I124M|SNAP91_ENST00000437520.1_Missense_Mutation_p.I124M|SNAP91_ENST00000369694.2_Missense_Mutation_p.I124M|SNAP91_ENST00000520213.1_Missense_Mutation_p.I124M			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	124	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TATAGCGCCTTATGAAGGTAG	0.328000													13	31					0	0	1	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40704232	40704232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:40704232C>A	ENST00000356699.5	+	4	1918	c.1889C>A	c.(1888-1890)tCa>tAa	p.S630*		NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3																		CAGGACGAATCACCAGGGACA	0.527000													36	12					5.43694e-19	7.44076e-19	1	1	0
PDE1C	5137	broad.mit.edu	37	7	31904566	31904566	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:31904566G>T	ENST00000396184.3	-	8	944	c.740C>A	c.(739-741)aCa>aAa	p.T247K	PDE1C_ENST00000396182.2_Missense_Mutation_p.T247K|PDE1C_ENST00000396193.1_Missense_Mutation_p.T307K|PDE1C_ENST00000321453.7_Missense_Mutation_p.T247K|PDE1C_ENST00000396191.1_Missense_Mutation_p.T247K	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	247	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			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)			CGCCACTCCTGTCTTATAGAG	0.463000													26	45					9.86323e-18	1.33267e-17	1	1	0
RNF111	54778	broad.mit.edu	37	15	59323323	59323323	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:59323323G>T	ENST00000348370.4	+	2	735	c.302G>T	c.(301-303)gGc>gTc	p.G101V	RNF111_ENST00000559209.1_Missense_Mutation_p.G101V|RNF111_ENST00000434298.1_Missense_Mutation_p.G101V|RNF111_ENST00000557998.1_Missense_Mutation_p.G101V|RNF111_ENST00000561186.1_Missense_Mutation_p.G101V	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	101					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CAGCAGGCTGGCCCTTCGTAT	0.413000													32	15					1.39806e-14	1.8421e-14	1	1	0
NEK5	341676	broad.mit.edu	37	13	52646088	52646088	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr13:52646088G>A	ENST00000355568.4	-	21	2055	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	639							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ACCTGCTTCTGGGCAGTGAAG	0.403000													24	5					0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76868851	76868851	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:76868851A>G	ENST00000372702.3	-	1	128	c.65T>C	c.(64-66)cTg>cCg	p.L22P	DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.L22P			Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	22						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTCCAGCTCCAGGATGCTGGG	0.632000													17	13					0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71068474	71068474	+	Splice_Site	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:71068474C>T	ENST00000396094.2	+	9	698	c.648_splice	c.e9-1	p.S217_splice		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	217					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCTCTGTAGTCAACAGGAGAA	0.388000													5	8					0	0	1	0	0
FA2H	79152	broad.mit.edu	37	16	74761162	74761162	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:74761162C>A	ENST00000219368.3	-	3	555	c.486G>T	c.(484-486)gaG>gaT	p.E162D	FA2H_ENST00000544337.1_Intron	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	162					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TAGAGAGGCCCTCAATGAGGT	0.587000													9	17					0.00448238	0.0047319	1	1	0
ELAC1	55520	broad.mit.edu	37	18	48510764	48510764	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr18:48510764A>T	ENST00000269466.3	+	3	563	c.456A>T	c.(454-456)caA>caT	p.Q152H	ELAC1_ENST00000588577.1_Intron|RP11-729L2.2_ENST00000588256.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000591429.1_Missense_Mutation_p.Q152H|SMAD4_ENST00000452201.2_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	152					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		AAGAGGAACAAGGAAGAACTA	0.403000													17	11					0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041089	207041089	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:207041089G>C	ENST00000407325.2	-	3	1245	c.883C>G	c.(883-885)Ctc>Gtc	p.L295V	GPR1_ENST00000437420.1_Missense_Mutation_p.L295V	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	295						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CAACTATTGAGGAATGCCAAA	0.468000													8	25					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28408273	28408273	+	Silent	SNP	C	C	A	rs142209264		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:28408273C>A	ENST00000261609.7	-	69	10821	c.10713G>T	c.(10711-10713)gcG>gcT	p.A3571A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3571					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGGAAAGCACCGCGGAGAGCA	0.647000													4	54					0.150653	0.153251	1	1	0
POC1B	282809	broad.mit.edu	37	12	89819073	89819073	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:89819073T>C	ENST00000393179.4	-	9	1420	c.807A>G	c.(805-807)ccA>ccG	p.P269P	POC1B_ENST00000549504.1_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000313546.3_Silent_p.P399P|POC1B_ENST00000549035.1_Silent_p.P357P|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000378528.2_3'UTR					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GCAAACATTCTGGTGACATTA	0.448000													44	55					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381332	55381332	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:55381332G>A	ENST00000398661.2	-	5	588	c.457C>T	c.(457-459)Cct>Tct	p.P153S	HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P123S|HMGCLL1_ENST00000370850.2_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	153							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGAAGATTAGGAGTAAGGACA	0.333000													27	28					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718516	142718516	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:142718516G>C	ENST00000381779.4	-	2	634	c.409C>G	c.(409-411)Cag>Gag	p.Q137E	SLITRK4_ENST00000338017.4_Missense_Mutation_p.Q137E|SLITRK4_ENST00000356928.1_Missense_Mutation_p.Q137E	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	137						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTCAGCCTGGAGATACTCC	0.388000													49	16					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62442634	62442634	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:62442634G>C	ENST00000281156.4	-	7	1124	c.846C>G	c.(844-846)gaC>gaG	p.D282E		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	282					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)		CATAGGTCTGGTCATCATATT	0.378000													16	48					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79080653	79080653	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:79080653G>T	ENST00000321300.6	+	12	1539	c.1446G>T	c.(1444-1446)acG>acT	p.T482T	BAIAP2_ENST00000575712.1_Silent_p.T482T|BAIAP2_ENST00000428708.2_Silent_p.T482T|BAIAP2_ENST00000321280.7_Silent_p.T482T|BAIAP2_ENST00000416299.2_Silent_p.T345T|BAIAP2_ENST00000392411.3_Silent_p.T404T|BAIAP2_ENST00000435091.3_Silent_p.T482T|BAIAP2_ENST00000575245.1_Silent_p.T515T	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	482					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCGCCCAGACGGCCAGCGGCT	0.716000													6	21					3.59834e-05	4.00569e-05	1	1	0
FBN1	2200	broad.mit.edu	37	15	48797310	48797310	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:48797310C>A	ENST00000316623.5	-	16	2327	c.1872G>T	c.(1870-1872)atG>atT	p.M624I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	624	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AACGCCCATTCATGCAGATCC	0.443000													5	52					0.000602214	0.00064732	1	1	0
OR4C12	283093	broad.mit.edu	37	11	50003881	50003881	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:50003881G>T	ENST00000335238.4	-	1	190	c.157C>A	c.(157-159)Ctg>Atg	p.L53M		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGGGAGCTCAGAGCCTGGCTG	0.418000													11	27					3.07112e-06	3.46971e-06	1	1	0
SYCP1	6847	broad.mit.edu	37	1	115401315	115401315	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:115401315G>C	ENST00000369522.3	+	6	679	c.439G>C	c.(439-441)Gcc>Ccc	p.A147P	SYCP1_ENST00000369518.1_Missense_Mutation_p.A147P	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	147					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCGAAAAGCCATTCAGGA	0.313000													39	54					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868855	189868855	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:189868855G>T	ENST00000304636.3	+	39	2979	c.2809G>T	c.(2809-2811)Gcc>Tcc	p.A937S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	937	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)	ATCGCCTGGTGCCCAGGGCCC	0.473000													7	17					1.12685e-05	1.25705e-05	1	1	0
GAS6	2621	broad.mit.edu	37	13	114535790	114535790	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr13:114535790C>G	ENST00000357389.3	-	9	1051	c.899G>C	c.(898-900)cGt>cCt	p.R300P	GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Intron|GAS6_ENST00000450766.1_Intron|GAS6_ENST00000418959.3_5'UTR|GAS6_ENST00000355761.4_Intron			Q14393	GAS6_HUMAN	growth arrest-specific 6	300					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CTGAGCCCCACGCCCCGGCCG	0.716000													24	9					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6013855	6013855	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:6013855C>G	ENST00000259569.5	-	1	1763	c.1753G>C	c.(1753-1755)Gca>Cca	p.A585P	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	585					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACATTTGATGCATCTTGCATA	0.413000													69	37					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518413	86518413	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:86518413G>A	ENST00000297814.2	-	4	1163	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	KIF27_ENST00000413982.1_Silent_p.N340N|KIF27_ENST00000334204.2_Silent_p.N340N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	340					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTTTCTAATGTTCCGTGCTC	0.438000													28	68					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14378328	14378328	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:14378328C>A	ENST00000403951.2	-	23	2356	c.1937G>T	c.(1936-1938)gGa>gTa	p.G646V	DGKB_ENST00000407950.1_Missense_Mutation_p.G638V|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.G646V|DGKB_ENST00000258767.5_Missense_Mutation_p.G646V|DGKB_ENST00000402815.1_Missense_Mutation_p.G645V|DGKB_ENST00000444700.2_Missense_Mutation_p.G627V|DGKB_ENST00000406247.3_Missense_Mutation_p.G646V			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	646					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TATCTGTACTCCATCACACTG	0.338000													11	15					3.86212e-05	4.28139e-05	1	1	0
NOTCH3	4854	broad.mit.edu	37	19	15295221	15295221	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:15295221G>A	ENST00000263388.2	-	16	2526	c.2451C>T	c.(2449-2451)ccC>ccT	p.P817P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	817	EGF-like 21; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACAGGGTGCGGGGCCAGCAC	0.612000													16	40					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100087211	100087211	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:100087211G>T	ENST00000423930.1	+	4	2026	c.1867G>T	c.(1867-1869)Ggc>Tgc	p.G623C	NYAP1_ENST00000300179.2_Missense_Mutation_p.G623C|NYAP1_ENST00000454988.1_Missense_Mutation_p.G566C			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	623																	AGAGGAGGTGGGCGCCGCGAC	0.627000													22	30					1.22574e-08	1.47589e-08	1	1	0
TNN	63923	broad.mit.edu	37	1	175066654	175066654	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:175066654C>T	ENST00000239462.4	+	8	1803	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	564	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.R564C(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTACGTGGTGCGCTACACCTC	0.587000													4	27					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147556394	147556394	+	Missense_Mutation	SNP	G	G	A	rs144000289		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:147556394G>A	ENST00000367481.3	+	3	365	c.257G>A	c.(256-258)cGt>cAt	p.R86H	STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000367480.3_Missense_Mutation_p.R86H|STXBP5_ENST00000321680.6_Missense_Mutation_p.R86H|STXBP5_ENST00000546097.1_Missense_Mutation_p.R86H	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	86					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGCTTTGGTCGTCCAGGAGTA	0.363000													13	20					0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8670768	8670768	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:8670768C>A	ENST00000299665.2	+	3	323	c.130C>A	c.(130-132)Cac>Aac	p.H44N		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	44					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AGTGACTCATCACAACTTTTC	0.393000													9	7					6.40141e-05	7.05218e-05	1	1	0
ZNF100	163227	broad.mit.edu	37	19	21910214	21910214	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:21910214C>T	ENST00000358296.6	-	5	1098	c.900G>A	c.(898-900)cgG>cgA	p.R300R	ZNF100_ENST00000305570.6_Silent_p.R236R	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GGTGTGAAGACCGGTTAAAAG	0.398000													33	44					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76288149	76288149	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:76288149A>T	ENST00000263187.3	+	7	1149	c.1045A>T	c.(1045-1047)Aga>Tga	p.R349*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	349					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGGAGGGAGTAGACGACTTCG	0.338000								Mismatch excision repair (MMR)					26	42					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024105	14024105	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:14024105G>T	ENST00000318003.7	+	5	744	c.503G>T	c.(502-504)cGg>cTg	p.R168L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R168L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	168					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGCTACGATCGGGGGCTTAAA	0.607000													7	21					1.06961e-07	1.25656e-07	1	1	0
TMX2	51075	broad.mit.edu	37	11	57480109	57480109	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:57480109C>T	ENST00000278422.4	+	1	31	c.19C>T	c.(19-21)Cta>Tta	p.L7L	TMX2_ENST00000378312.4_Silent_p.L7L|TMX2-CTNND1_ENST00000528395.1_Silent_p.L7L	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	7					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CTTGGCACCTCTAATTGCTCT	0.602000													6	8					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334105	37334105	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:37334105C>A	ENST00000262825.5	+	14	2490	c.2273C>A	c.(2272-2274)cCc>cAc	p.P758H	CSF2RB_ENST00000406230.1_Missense_Mutation_p.P758H|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P752H|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P699H	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	752					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCAGTGGACCCCCTGGAGCC	0.627000													23	26					6.44725e-10	7.98017e-10	1	1	0
MAPK10	5602	broad.mit.edu	37	4	87019718	87019718	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:87019718C>T	ENST00000395169.3	-	9	1367	c.647G>A	c.(646-648)gGa>gAa	p.G216E	MAPK10_ENST00000395160.3_Missense_Mutation_p.G109E|MAPK10_ENST00000361569.2_Missense_Mutation_p.G254E|MAPK10_ENST00000359221.3_Missense_Mutation_p.G254E|MAPK10_ENST00000395157.3_Missense_Mutation_p.G109E|MAPK10_ENST00000395161.2_Missense_Mutation_p.G254E|MAPK10_ENST00000449047.2_Intron|MAPK10_ENST00000395166.1_Missense_Mutation_p.G216E	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	254	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AACCATTTCTCCCATAATGCA	0.413000													21	29					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819629	50819629	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:50819629C>A	ENST00000374115.3	+	1	1283	c.843C>A	c.(841-843)ccC>ccA	p.P281P	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	281					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGGGCACTCCCATCCACCGCC	0.647000													27	10					2.24059e-21	3.1475e-21	1	1	0
STAT4	6775	broad.mit.edu	37	2	191929664	191929664	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:191929664G>T	ENST00000392320.2	-	8	965	c.651C>A	c.(649-651)acC>acA	p.T217T	STAT4_ENST00000358470.4_Silent_p.T217T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	217					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGATGATTTGGGTCATTTTAC	0.433000													58	88					2.22609e-26	3.19473e-26	1	1	0
CUBN	8029	broad.mit.edu	37	10	17113555	17113555	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:17113555A>T	ENST00000377833.4	-	19	2560	c.2495T>A	c.(2494-2496)tTt>tAt	p.F832Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	832	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACGTTAGGAAAAAAAGGCGA	0.418000													30	11					0	0	1	0	0
CALCA	796	broad.mit.edu	37	11	14990424	14990424	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:14990424G>T	ENST00000331587.4	-	4	465	c.347C>A	c.(346-348)cCt>cAt	p.P116H	CALCA_ENST00000359642.3_Missense_Mutation_p.P116H|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000361010.3_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.P116H|CALCA_ENST00000486207.1_Intron	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	119					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	TTTCTTTCCAGGTGCTCCAAC	0.507000													30	54					3.11337e-16	4.14336e-16	1	1	0
SSPO	23145	broad.mit.edu	37	7	149506177	149506177	+	RNA	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:149506177G>C	ENST00000378016.2	+	0	9169							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTGCCCTGTGGTGGTGGCTA	0.701000													4	3					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272365	158272365	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:158272365T>C	ENST00000264192.3	-	8	1025	c.904A>G	c.(904-906)Aac>Gac	p.N302D	CYTIP_ENST00000540637.1_Missense_Mutation_p.N196D	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	302	Ser-rich.				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						ATGCTCCGGTTCCTCCTTGAA	0.552000													24	40					0	0	1	0	0
FCGRT	2217	broad.mit.edu	37	19	50029346	50029346	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:50029346G>T	ENST00000221466.5	+	7	1554	c.1068G>T	c.(1066-1068)aaG>aaT	p.K356N	FCGRT_ENST00000426395.3_Missense_Mutation_p.K356N|FCGRT_ENST00000596975.1_Missense_Mutation_p.K264N|FCGRT_ENST00000599988.1_Missense_Mutation_p.K90N	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	356					antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CTGATTTGAAGGATGTAAATG	0.582000													52	85					2.01807e-28	2.90405e-28	1	1	0
NCAPD3	23310	broad.mit.edu	37	11	134062790	134062790	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:134062790G>A	ENST00000534548.2	-	16	1903	c.1839C>T	c.(1837-1839)tgC>tgT	p.C613C		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	613					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GGATCTGCACGCATCTAGGCT	0.502000													28	37					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208211756	208211756	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:208211756T>C	ENST00000367033.3	-	26	5481	c.4724A>G	c.(4723-4725)gAg>gGg	p.E1575G		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1575					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCAGTCACCCTCAATCTTGGT	0.602000													21	59					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275771	71275771	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:71275771A>T	ENST00000399575.2	+	3	900	c.726A>T	c.(724-726)aaA>aaT	p.K242N		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	242					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTTGGCAAAAACTCTTTGCCA	0.378000													8	25					0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42853645	42853645	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:42853645T>C	ENST00000455697.1	-	8	2747	c.2462A>G	c.(2461-2463)aAg>aGg	p.K821R	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K821R|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K821R|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K821R|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K821R|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	821	Poly-Lys.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTTGTGTCCCTTTTTCTTCTT	0.403000													5	95					0	0	1	0	0
HOXD4	3233	broad.mit.edu	37	2	177017513	177017513	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:177017513A>T	ENST00000306324.3	+	2	1023	c.611A>T	c.(610-612)aAc>aTc	p.N204I	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TGGTTCCAGAACCGGAGGATG	0.502000													25	52					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584228	7584228	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:7584228G>C	ENST00000379802.3	+	24	7074	c.6733G>C	c.(6733-6735)Gag>Cag	p.E2245Q	DSP_ENST00000418664.2_Missense_Mutation_p.E1646Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2245	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)		TTCTTATGACGAGGTTGGTGA	0.448000													18	18					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7370046	7370046	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:7370046G>T	ENST00000311403.4	-	3	414	c.75C>A	c.(73-75)ctC>ctA	p.L25L	ZBTB4_ENST00000380599.4_Silent_p.L25L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGAGGCCACGGAGCCGCTGTT	0.647000													8	1					5.18039e-06	5.81562e-06	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11038825	11038825	+	RNA	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:11038825C>T	ENST00000470054.1	-	0	1378									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)		AAGTTGTTGGCATGATGTTTC	0.453000													16	188					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	286539	286539	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:286539C>T	ENST00000432829.2	+	3	347	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	DOCK8_ENST00000469391.1_Missense_Mutation_p.L11F|DOCK8_ENST00000453981.1_Missense_Mutation_p.L79F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	79					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGATGTGCAGCTTGCCCAGGA	0.547000													15	6					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887155	62887155	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:62887155C>A	ENST00000281156.4	-	2	432	c.154G>T	c.(154-156)Gtc>Ttc	p.V52F		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	52					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)		TTGCTGATGACATCAAGATAC	0.333000													7	13					2.0095e-06	2.28489e-06	1	1	0
SLITRK4	139065	broad.mit.edu	37	X	142717766	142717766	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:142717766T>A	ENST00000381779.4	-	2	1384	c.1159A>T	c.(1159-1161)Aat>Tat	p.N387Y	SLITRK4_ENST00000338017.4_Missense_Mutation_p.N387Y|SLITRK4_ENST00000356928.1_Missense_Mutation_p.N387Y	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	387						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGATGCTATTGCCATTGACG	0.408000													53	27					0	0	1	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460416	113460416	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:113460416C>T	ENST00000538576.1	-	4	1443	c.612G>A	c.(610-612)aaG>aaA	p.K204K	SLC16A1_ENST00000433570.4_Silent_p.K204K|SLC16A1_ENST00000369626.3_Silent_p.K204K	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	204			K -> E (in SDLT).		blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CTTTCCCTGCCTTGGTTGGCT	0.463000													14	29					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9695347	9695347	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:9695347G>C	ENST00000296003.4	+	2	324	c.202G>C	c.(202-204)Gac>Cac	p.D68H	MTMR14_ENST00000351233.5_Missense_Mutation_p.D68H|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Missense_Mutation_p.D68H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	68						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GTTTGGCCGAGACTACTGTTT	0.498000													10	40					0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26902194	26902194	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:26902194C>T	ENST00000226253.4	-	3	746	c.271G>A	c.(271-273)Ggt>Agt	p.G91S	ALDOC_ENST00000395321.2_Missense_Mutation_p.G91S|ALDOC_ENST00000395319.3_Missense_Mutation_p.G91S	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	91					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AAGGGAACACCATTATCATCT	0.522000											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	36					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6244316	6244316	+	Silent	SNP	T	T	A	rs145608756		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:6244316T>A	ENST00000265978.4	-	4	1288	c.930A>T	c.(928-930)gtA>gtT	p.V310V	FAM160A2_ENST00000524416.1_Silent_p.V310V|FAM160A2_ENST00000449352.2_Silent_p.V310V	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	310					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTACCTGAATTACTGCATTGC	0.507000													50	101					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20045066	20045066	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:20045066T>A	ENST00000343769.5	+	4	1330	c.1302T>A	c.(1300-1302)ttT>ttA	p.F434L	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	434						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GCAAAGCCTTTGTTGCATCCT	0.413000													32	45					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984518	110984518	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:110984518C>A	ENST00000524391.1	-	3	1992	c.960G>T	c.(958-960)ctG>ctT	p.L320L	KCNV1_ENST00000297404.1_Silent_p.L320L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	320						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTAGCATGCGCAGAGCCCTGA	0.507000													9	23					0.000274275	0.000299056	1	1	0
CSN2	1447	broad.mit.edu	37	4	70823093	70823093	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:70823093G>A	ENST00000353151.3	-	5	585	c.574C>T	c.(574-576)Cct>Tct	p.P192S		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	192					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GCTTGAACAGGCACAGCTCTC	0.557000													9	15					0	0	1	0	0
RNF183	138065	broad.mit.edu	37	9	116060063	116060063	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:116060063C>A	ENST00000478815.1	-	1	1982	c.402G>T	c.(400-402)acG>acT	p.T134T	RNF183_ENST00000441031.3_Silent_p.T134T|RNF183_ENST00000416588.2_Silent_p.T134T|RNF183_ENST00000297894.5_Silent_p.T134T			Q96D59	RN183_HUMAN	ring finger protein 183	134						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						TGGCAGAGGCCGTGTCTGGGG	0.642000													38	30					2.04263e-09	2.49917e-09	1	1	0
C3orf56	285311	broad.mit.edu	37	3	126916057	126916057	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:126916057G>T	ENST00000398112.1	+	2	769	c.529G>T	c.(529-531)Gct>Tct	p.A177S		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		ATCCAGAGGAGCTCCCTACTT	0.642000													29	9					1.17739e-12	1.52116e-12	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137591783	137591783	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:137591783C>A	ENST00000371817.3	+	3	720	c.306C>A	c.(304-306)atC>atA	p.I102I	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	102	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTTCTCCATCCTAACAACTG	0.587000													18	65					0.204396	0.206339	1	1	0
AGAP2	116986	broad.mit.edu	37	12	58131112	58131112	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:58131112G>A	ENST00000547588.1	-	1	917	c.918C>T	c.(916-918)acC>acT	p.T306T	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	306	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CGGAAGCAGCGGTGACAGCAG	0.677000													26	28					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131861907	131861907	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:131861907G>T	ENST00000286355.5	-	10	4445	c.2353C>A	c.(2353-2355)Cgg>Agg	p.R785R	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	785					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGACGTTCCGGGCCAAATAG	0.468000										HNSCC(32;0.087)			20	40					3.62473e-10	4.50757e-10	1	1	0
SLC25A25	114789	broad.mit.edu	37	9	130865985	130865985	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:130865985C>G	ENST00000373066.5	+	6	1015	c.608C>G	c.(607-609)aCg>aGg	p.T203R	SLC25A25_ENST00000433501.1_Missense_Mutation_p.T68R|SLC25A25_ENST00000432073.2_Missense_Mutation_p.T191R|SLC25A25_ENST00000373068.2_Missense_Mutation_p.T205R|SLC25A25_ENST00000373069.5_Missense_Mutation_p.T217R|SLC25A25_ENST00000373064.5_Missense_Mutation_p.T171R	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	171					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GAGAATCTAACGGTCCCGGAT	0.602000													4	83					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546454	11546454	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:11546454T>A	ENST00000389362.4	-	3	593	c.558A>T	c.(556-558)caA>caT	p.Q186H	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTTGCCTCCTTGTGGGGGTG	0.607000													6	365					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179475027	179475027	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:179475027C>A	ENST00000589042.1	-	271	51450	c.51226G>T	c.(51226-51228)Gga>Tga	p.G17076*	TTN_ENST00000359218.5_Nonsense_Mutation_p.G8136*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.G8203*|TTN_ENST00000591111.1_Nonsense_Mutation_p.G15435*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.G8011*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.G14508*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15435	Ig-like 102.						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)			ATTGGGGTTCCACCATCAAAT	0.423000													14	105					3.27435e-08	3.89839e-08	1	1	0
PODN	127435	broad.mit.edu	37	1	53535790	53535790	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:53535790G>T	ENST00000371500.3	+	4	691	c.350G>T	c.(349-351)cGt>cTt	p.R117L	PODN_ENST00000395871.2_Missense_Mutation_p.R136L|PODN_ENST00000312553.5_Missense_Mutation_p.R136L|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	88					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.R136L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTGACCTGCGTGAGTTCCCG	0.677000													20	41					0.00229938	0.00243706	1	1	0
HIST1H1C	3006	broad.mit.edu	37	6	26056301	26056301	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:26056301T>C	ENST00000343677.2	-	1	398	c.356A>G	c.(355-357)aAg>aGg	p.K119R		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	119					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CTTTTTAACCTTGGGCTTGGC	0.582000													33	69					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779303	205779303	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:205779303G>A	ENST00000367137.3	-	2	1281	c.267C>T	c.(265-267)tcC>tcT	p.S89S		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	89						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCTTGAGCGGGGAAGGTGGCG	0.622000													27	39					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220091794	220091794	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:220091794A>G	ENST00000366926.3	-	3	922	c.761T>C	c.(760-762)gTt>gCt	p.V254A	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.V9A	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	254	Poly-Val.				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GATGACCACAACCACGGACCC	0.527000													25	64					0	0	1	0	0
GNAL	2774	broad.mit.edu	37	18	11872270	11872270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr18:11872270G>A	ENST00000334049.6	+	10	1643	c.1035G>A	c.(1033-1035)tgG>tgA	p.W345*	GNAL_ENST00000535121.1_Nonsense_Mutation_p.W268*|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000423027.3_Nonsense_Mutation_p.W268*|GNAL_ENST00000269162.5_Nonsense_Mutation_p.W268*|GNAL_ENST00000602628.1_Nonsense_Mutation_p.W61*	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	268					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TTTTTAGGTGGTTACGGACCA	0.333000													19	78					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692027	116692027	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:116692027G>A	ENST00000357780.3	-	3	861	c.747C>T	c.(745-747)gcC>gcT	p.A249A		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGAGCTCCTCGGCGTTCTTCT	0.657000													28	40					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19914117	19914117	+	Missense_Mutation	SNP	C	C	T	rs145926987		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:19914117C>T	ENST00000396085.1	+	6	1269	c.908C>T	c.(907-909)cCa>cTa	p.P303L	NAV2_ENST00000349880.4_Missense_Mutation_p.P303L|NAV2_ENST00000527559.2_Missense_Mutation_p.P255L|NAV2_ENST00000360655.4_Missense_Mutation_p.P239L|NAV2_ENST00000540292.1_Missense_Mutation_p.P257L|NAV2_ENST00000396087.3_Missense_Mutation_p.P326L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	326						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCCACCCCCACCGCCAAGC	0.517000													12	24					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887311	9887311	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr18:9887311C>A	ENST00000306084.6	+	2	1034	c.835C>A	c.(835-837)Ccc>Acc	p.P279T	TXNDC2_ENST00000357775.4_Missense_Mutation_p.P212T|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	279	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCCAGCCAGCCCAAGGAGGG	0.602000													44	146					3.4587e-08	4.10866e-08	1	1	0
TNS3	64759	broad.mit.edu	37	7	47440030	47440030	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:47440030C>A	ENST00000398879.1	-	15	1245	c.879G>T	c.(877-879)aaG>aaT	p.K293N	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.K293N			Q68CZ2	TENS3_HUMAN	tensin 3	293	C2 tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTAATTCAACCTTCCCATAGT	0.428000													8	37					1.76689e-08	2.11788e-08	1	1	0
TRIM38	10475	broad.mit.edu	37	6	25983648	25983648	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:25983648G>A	ENST00000357085.3	+	8	1607	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	TRIM38_ENST00000349458.3_Silent_p.E377E	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	377	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TGAAGCAAGAGCCTCAGTCTG	0.507000													30	43					0	0	1	0	0
CCT6P3	643180	broad.mit.edu	37	7	64498797	64498797	+	RNA	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:64498797G>C	ENST00000426828.1	+	0	60					NR_033416.1																						GGTGGGAGCGGGTGGCCCGGT	0.726000													5	18					0	0	1	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249393	90249393	+	RNA	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:90249393C>T	ENST00000468879.1	+	0	530																											TTATAGTACCCCTCCCACAGT	0.517000													70	183					0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6189454	6189454	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:6189454A>G	ENST00000306177.5	+	13	1785	c.1627A>G	c.(1627-1629)Agt>Ggt	p.S543G		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	543					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TAACCTTCATAGTAATTCTTT	0.433000													21	42					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196964875	196964875	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:196964875T>C	ENST00000367414.5	+	5	764	c.708T>C	c.(706-708)ccT>ccC	p.P236P	CFHR5_ENST00000256785.4_Silent_p.P212P	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	212	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTCCACCTCCTCAACTCTCCA	0.328000													12	19					0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48443749	48443749	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:48443749C>A	ENST00000324324.7	-	13	1506	c.1227G>T	c.(1225-1227)atG>atT	p.M409I	MYEF2_ENST00000267836.6_Missense_Mutation_p.M409I	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	409	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGCTACTAGTCATCGCACCAC	0.383000													20	159					2.39556e-15	3.18011e-15	1	1	0
AHDC1	27245	broad.mit.edu	37	1	27876193	27876193	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:27876193C>T	ENST00000374011.2	-	6	3402	c.2434G>A	c.(2434-2436)Ggc>Agc	p.G812S	AHDC1_ENST00000247087.5_Missense_Mutation_p.G812S|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	812	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTGCCACGGCCTGAGGCTCCA	0.652000													21	56					0	0	1	0	0
LANCL2	55915	broad.mit.edu	37	7	55467659	55467659	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:55467659G>T	ENST00000254770.2	+	4	1118	c.540G>T	c.(538-540)caG>caT	p.Q180H	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	180					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GACTTTTGCAGCTCCAGAGAT	0.413000													41	46					8.16277e-20	1.13171e-19	1	1	0
CR2	1380	broad.mit.edu	37	1	207652615	207652615	+	Silent	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:207652615T>A	ENST00000367057.3	+	17	3291	c.3102T>A	c.(3100-3102)ccT>ccA	p.P1034P	CR2_ENST00000367059.3_Silent_p.P913P|CR2_ENST00000367058.3_Silent_p.P975P|CR2_ENST00000458541.2_Silent_p.P948P	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	975					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACTTGCTCCTGTCCTTTGTG	0.313000													12	18					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188126	37188126	+	RNA	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:37188126C>A	ENST00000425901.2	+	0	1968					NR_033753.2																						AAGGTTGAACCGTCTACAGCC	0.522000													37	46					1.4065e-29	2.02948e-29	1	1	0
ZNF827	152485	broad.mit.edu	37	4	146807290	146807290	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:146807290C>A	ENST00000508784.1	-	4	1514	c.1287G>T	c.(1285-1287)cgG>cgT	p.R429R	ZNF827_ENST00000379448.4_Silent_p.R429R|ZNF827_ENST00000513320.1_Silent_p.R79R			Q17R98	ZN827_HUMAN	zinc finger protein 827	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGGTCTCTCCCCGATCCTGGT	0.507000													6	17					5.9392e-07	6.84103e-07	1	1	0
MUC17	140453	broad.mit.edu	37	7	100680662	100680662	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:100680662A>G	ENST00000306151.4	+	3	6029	c.5965A>G	c.(5965-5967)Agt>Ggt	p.S1989G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1989	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S1989C(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCACTAACAAGTATGCCTCT	0.512000													135	224					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49284577	49284577	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:49284577T>G	ENST00000559471.1	-	18	3433	c.3170A>C	c.(3169-3171)gAg>gCg	p.E1057A	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E1012A	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	1057										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTCCAGCACCTCAGGCGCCTC	0.542000													26	14					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26789884	26789884	+	Silent	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:26789884A>G	ENST00000376236.4	+	5	752	c.297A>G	c.(295-297)ctA>ctG	p.L99L	APBB1IP_ENST00000356785.4_Silent_p.L99L	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	99					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAGCATCTCTACAAGCATCAA	0.473000													17	56					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183994271	183994271	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:183994271G>T	ENST00000404464.3	+	2	180	c.42G>T	c.(40-42)atG>atT	p.M14I	ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.M14I|EIF2B5_ENST00000444495.1_Intron	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	endothelin converting enzyme 2	0	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGGCAGATGGTGGAGTACA	0.687000													11	9					1.58986e-06	1.81552e-06	1	1	0
TAOK3	51347	broad.mit.edu	37	12	118682749	118682749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:118682749C>A	ENST00000392533.3	-	4	632	c.142G>T	c.(142-144)Gag>Tag	p.E48*	TAOK3_ENST00000419821.2_Nonsense_Mutation_p.E48*	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	48	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCACCACCTCACTGGTGTGA	0.373000													23	37					9.57634e-11	1.20499e-10	1	1	0
COL8A1	1295	broad.mit.edu	37	3	99513367	99513367	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:99513367G>C	ENST00000261037.3	+	5	1002	c.622G>C	c.(622-624)Ggg>Cgg	p.G208R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G208R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	208	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TCCTGGCATTGGGAAGCCAGG	0.587000													9	33					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922660	37922660	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:37922660C>A	ENST00000346872.3	-	8	974	c.913G>T	c.(913-915)Gac>Tac	p.D305Y	IKZF3_ENST00000467757.1_Missense_Mutation_p.D249Y|IKZF3_ENST00000350532.3_Missense_Mutation_p.D266Y|IKZF3_ENST00000439016.2_Missense_Mutation_p.D210Y|IKZF3_ENST00000394189.2_Missense_Mutation_p.D123Y|IKZF3_ENST00000583368.1_Missense_Mutation_p.D58Y|IKZF3_ENST00000377944.3_Missense_Mutation_p.D162Y|IKZF3_ENST00000377958.2_Missense_Mutation_p.D218Y|IKZF3_ENST00000351680.3_Missense_Mutation_p.D266Y|IKZF3_ENST00000346243.3_Missense_Mutation_p.D227Y|IKZF3_ENST00000377945.3_Missense_Mutation_p.D171Y|IKZF3_ENST00000439167.2_Missense_Mutation_p.D232Y|IKZF3_ENST00000377952.2_Missense_Mutation_p.D84Y|IKZF3_ENST00000535189.1_Missense_Mutation_p.D271Y	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	305					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATGGCTTGGTCCATCATGCGG	0.517000													32	40					3.03874e-20	4.22401e-20	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52370189	52370189	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:52370189A>T	ENST00000356297.4	-	9	951	c.851T>A	c.(850-852)gTg>gAg	p.V284E	PXDNL_ENST00000543296.1_Missense_Mutation_p.V284E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	284	Ig-like C2-type 1.				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)				ATCATCAAACACATTAAGTCG	0.403000													34	110					0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44337832	44337832	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:44337832C>T	ENST00000288390.2	+	6	1087	c.740C>T	c.(739-741)cCt>cTt	p.P247L	SPATS1_ENST00000323108.8_Missense_Mutation_p.P247L			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	247										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)			CCACTTGAGCCTCTTCCACAA	0.348000													30	32					0	0	1	0	0
EXO5	64789	broad.mit.edu	37	1	40980312	40980312	+	Silent	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:40980312A>G	ENST00000372703.1	+	2	1170	c.96A>G	c.(94-96)gaA>gaG	p.E32E	RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000296380.4_Silent_p.E32E|EXO5_ENST00000358527.2_Silent_p.E32E					exonuclease 5																		TGGACCTAGAAGATGCCCAAG	0.478000													36	38					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836307	23836307	+	Silent	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:23836307T>A	ENST00000359788.4	-	4	1596	c.1428A>T	c.(1426-1428)ggA>ggT	p.G476G	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	476					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGGGTATCTCTCCAGAATGAA	0.363000													14	26					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127682102	127682102	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:127682102C>A	ENST00000405109.1	+	5	2030	c.1563C>A	c.(1561-1563)aaC>aaA	p.N521K	KBTBD12_ENST00000405256.1_Missense_Mutation_p.N521K|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Missense_Mutation_p.N128K|KBTBD12_ENST00000343941.4_Missense_Mutation_p.N96K			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	521										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AGATCTACAACCCAGATGGGG	0.547000													5	3					0.00198382	0.00210681	1	1	0
CHST2	9435	broad.mit.edu	37	3	142840858	142840858	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:142840858T>A	ENST00000309575.3	+	2	2584	c.1200T>A	c.(1198-1200)aaT>aaA	p.N400K		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	400					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TCATCTGCAATAGTATGGCTA	0.657000													44	37					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73479975	73479975	+	Silent	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:73479975A>T	ENST00000523207.1	+	2	594	c.6A>T	c.(4-6)gcA>gcT	p.A2A		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	2					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCAAAATGGCAGAAAAGGCTC	0.507000													28	95					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448913	52448913	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:52448913G>C	ENST00000293471.6	+	6	2456	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q	ZNF613_ENST00000391794.4_Missense_Mutation_p.E557Q|ZNF613_ENST00000601794.1_Intron	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GTTCCAAGCAGAGAGCAAAGT	0.443000													5	41					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42862415	42862415	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:42862415C>T	ENST00000334370.4	+	28	5565	c.4930C>T	c.(4930-4932)Cct>Tct	p.P1644S	MEGF8_ENST00000251268.6_Missense_Mutation_p.P1711S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1711						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTGCACTGTCCTGACCGCAC	0.627000													4	7					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42579976	42579976	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:42579976G>C	ENST00000318010.8	+	4	529	c.289G>C	c.(289-291)Gaa>Caa	p.E97Q	GANC_ENST00000566442.1_Missense_Mutation_p.E97Q	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	97					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ACCCAGATTTGAAGTTCCGGA	0.393000													21	25					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616341	77616341	+	Silent	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:77616341C>G	ENST00000521891.2	+	2	466	c.18C>G	c.(16-18)tcC>tcG	p.S6S	ZFHX4_ENST00000455469.2_Silent_p.S6S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.S6S|ZFHX4_ENST00000050961.6_Silent_p.S6S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTGTGACTCCCCTCCTATCT	0.463000										HNSCC(33;0.089)			10	17					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34859488	34859488	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:34859488G>T	ENST00000415930.3	+	5	570	c.399_splice	c.e5-1	p.G134_splice	GPI_ENST00000586425.1_Splice_Site_p.G95_splice|GPI_ENST00000356487.5_Splice_Site_p.G95_splice	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	95					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TAATCCCCAGGGTCGAGCCGT	0.597000													21	25					7.87624e-14	1.03012e-13	1	1	0
HYDIN	54768	broad.mit.edu	37	16	70975619	70975619	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:70975619C>A	ENST00000393567.2	-	43	6923	c.6773G>T	c.(6772-6774)cGg>cTg	p.R2258L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2258								p.R2257L(1)|p.R2209L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TATATGCTCCCGGCTGCCAAT	0.552000													31	52					2.75727e-19	3.78323e-19	1	1	0
ADAD2	161931	broad.mit.edu	37	16	84229196	84229196	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:84229196C>T	ENST00000268624.3	+	7	1284	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Silent_p.S315S|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	315	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGGAGCAGTCCGTGCTGGCCC	0.677000													9	40					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156616845	156616845	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:156616845C>T	ENST00000329117.4	+	3	680	c.344C>T	c.(343-345)gCg>gTg	p.A115V	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.A115V	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	115	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.A115V(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCGTACCCAGCGTCGCTCACC	0.682000													8	13					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85409099	85409099	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:85409099T>C	ENST00000359152.5	-	10	4913	c.4914A>G	c.(4912-4914)ggA>ggG	p.G1638G	SYTL2_ENST00000389958.3_Silent_p.G223G|SYTL2_ENST00000524452.1_Silent_p.G768G|SYTL2_ENST00000354566.3_Silent_p.G1130G|SYTL2_ENST00000316356.4_Silent_p.G793G|SYTL2_ENST00000533892.1_Silent_p.G194G|SYTL2_ENST00000389960.4_Silent_p.G768G|SYTL2_ENST00000528231.1_Silent_p.G792G|SYTL2_ENST00000527523.1_Silent_p.G760G|SYTL2_ENST00000529581.1_Silent_p.G234G|SYTL2_ENST00000525423.1_Silent_p.G1114G|SYTL2_ENST00000525702.1_Silent_p.G234G	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	792					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGTGCACTTCTCCAGTTGTAG	0.398000													23	41					0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12294602	12294602	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:12294602C>A	ENST00000379375.5	+	4	765	c.498C>A	c.(496-498)atC>atA	p.I166I		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	166					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				GAAGAAAAATCAGAAGAAGTT	0.388000													16	39					1.99824e-07	2.32689e-07	1	1	0
FGF3	2248	broad.mit.edu	37	11	69625383	69625383	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:69625383A>T	ENST00000334134.2	-	3	500	c.410T>A	c.(409-411)gTg>gAg	p.V137E		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	137					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CGTACTAGACACCGTCCGGTA	0.657000													23	31					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213349785	213349785	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:213349785A>T	ENST00000366960.3	+	8	1144	c.994A>T	c.(994-996)Agc>Tgc	p.S332C	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Intron|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S35C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S320C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	332					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAACCTAAGGAGCCCTGCCGA	0.473000													25	49					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530379	125530379	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:125530379C>A	ENST00000431078.1	+	17	2898	c.2534C>A	c.(2533-2535)cCt>cAt	p.P845H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	845	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTTCAGCTCCTTCAGAGATC	0.473000													14	27					0.0167234	0.017412	1	1	0
PRSS50	29122	broad.mit.edu	37	3	46754406	46754406	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:46754406C>T	ENST00000460241.1	-	10	2576	c.906G>A	c.(904-906)agG>agA	p.R302R	PRSS50_ENST00000315170.7_Silent_p.R302R			Q9UI38	TSP50_HUMAN	protease, serine, 50	302	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						AGAACTTCTCCCTGTGGGTGT	0.557000													43	22					0	0	1	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	65					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169772434	169772434	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:169772434C>G	ENST00000286031.6	+	5	996	c.296C>G	c.(295-297)aCa>aGa	p.T99R	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.T99R|C1orf112_ENST00000413811.2_Missense_Mutation_p.T70R|C1orf112_ENST00000456684.1_Missense_Mutation_p.T157R	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	99										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTAAAAGCACATTTGTGCAT	0.353000													12	13					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	30143171	30143171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:30143171C>A	ENST00000389048.3	-	1	1261	c.355G>T	c.(355-357)Gag>Tag	p.E119*	ALK_ENST00000431873.1_Nonsense_Mutation_p.E119*	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	119					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTCCGGGCCTCTGCCGGGGCT	0.731000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	0					0.004672	0.00491254	1	1	0
NRD1	4898	broad.mit.edu	37	1	52305985	52305985	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:52305985T>C	ENST00000354831.7	-	2	732	c.543A>G	c.(541-543)gaA>gaG	p.E181E	NRD1_ENST00000352171.7_Silent_p.E181E|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Silent_p.E49E|NRD1_ENST00000539524.1_Silent_p.E49E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	178	Asp/Glu-rich (highly acidic).				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						catcatcatgttcatcatcaa	0.373000													5	8					0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35869556	35869556	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:35869556G>T	ENST00000377981.2	-	1	905	c.843C>A	c.(841-843)gtC>gtA	p.V281V		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCATGGTCGTGACCATGGCAT	0.557000													9	12					5.4927e-09	6.62869e-09	1	1	0
RTL1	388015	broad.mit.edu	37	14	101347319	101347319	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:101347319G>T	ENST00000534062.1	-	1	3865	c.3807C>A	c.(3805-3807)ccC>ccA	p.P1269P		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	1269										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTGTGTGGCTGGGTGGGGCCT	0.637000													4	1					0.014758	0.0153959	1	1	0
HEXIM1	10614	broad.mit.edu	37	17	43227434	43227434	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:43227434G>T	ENST00000332499.2	+	1	2751	c.877G>T	c.(877-879)Gaa>Taa	p.E293*		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	293	Mediates interaction with CCNT1.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGAGTACCTGGAACTGGAGAA	0.627000													31	50					3.57733e-08	4.24009e-08	1	1	0
OR2T10	127069	broad.mit.edu	37	1	248756314	248756314	+	Silent	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:248756314A>G	ENST00000330500.2	-	1	786	c.756T>C	c.(754-756)taT>taC	p.Y252Y		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|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;0.0265)			TAGCAGCTCCATAGAAGAGGC	0.453000													13	10					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231607	21231607	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:21231607G>T	ENST00000233242.1	-	26	8260	c.8133C>A	c.(8131-8133)ttC>ttA	p.F2711L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2711					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGTAAACGGAAGTCTGGCA	0.463000													43	99					5.20837e-25	7.4146e-25	1	1	0
CFP	5199	broad.mit.edu	37	X	47486251	47486251	+	Silent	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:47486251A>G	ENST00000247153.3	-	7	1102	c.861T>C	c.(859-861)ccT>ccC	p.P287P	CFP_ENST00000396992.3_Silent_p.P287P|CFP_ENST00000377005.2_Silent_p.P287P	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	287	TSP type-1 4.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCTGGGGCACAGGGTGATTGC	0.667000													9	4					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232940896	232940896	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:232940896G>A	ENST00000418460.1	+	1	254	c.127G>A	c.(127-129)Gat>Aat	p.D43N		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		GATCTGCAGTGATAAAACCAT	0.388000													5	189					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118475755	118475755	+	Silent	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:118475755C>G	ENST00000360388.4	+	2	522	c.321C>G	c.(319-321)gtC>gtG	p.V107V		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	107					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTTCTTGGTCTATACCACCA	0.408000													39	71					0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29092739	29092739	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:29092739T>C	ENST00000306108.5	-	1	428	c.405A>G	c.(403-405)gaA>gaG	p.E135E		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	135							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CGTGACGCTCTTCGACCTCGG	0.577000													17	19					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118623726	118623726	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:118623726A>G	ENST00000336338.5	-	15	2272	c.2207T>C	c.(2206-2208)cTg>cCg	p.L736P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	736				L -> P (in Ref. 3; BAC03753).		cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAACTTACCCAGAGACTCATG	0.383000													12	51					0	0	1	0	0
ANKRD16	54522	broad.mit.edu	37	10	5931249	5931249	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:5931249C>A	ENST00000380094.5	-	1	612	c.69G>T	c.(67-69)aaG>aaT	p.K23N	ANKRD16_ENST00000191063.8_Missense_Mutation_p.K23N|ANKRD16_ENST00000380092.4_Missense_Mutation_p.K23N	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	23										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GCAGCTCCTCCTTCAGGGCGC	0.801000													2	0					0.0784	0.0800585	1	1	0
SMC3	9126	broad.mit.edu	37	10	112361903	112361903	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:112361903G>T	ENST00000361804.4	+	25	3198	c.3072G>T	c.(3070-3072)cgG>cgT	p.R1024R		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1024					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTGAACTTCGGAAATATGAAG	0.348000													48	16					2.55665e-31	3.7194e-31	1	1	0
OR4M2	390538	broad.mit.edu	37	15	22369286	22369286	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:22369286G>T	ENST00000332663.2	+	1	809	c.711G>T	c.(709-711)agG>agT	p.R237S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	237					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)		ATACCAACAGGGCCATGTCCA	0.458000													35	133					2.75727e-19	3.78323e-19	1	1	0
OR4K13	390433	broad.mit.edu	37	14	20502211	20502211	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:20502211G>A	ENST00000315693.2	-	1	708	c.707C>T	c.(706-708)gCt>gTt	p.A236V		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGTGGAGAAAGCCTTAGAGGA	0.483000													22	35					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48353837	48353837	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:48353837A>T	ENST00000435803.1	+	26	9714	c.9690A>T	c.(9688-9690)caA>caT	p.Q3230H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3230					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGGTTTCACAAAATGTCCAGG	0.368000													6	16					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52658865	52658865	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:52658865C>G	ENST00000322146.8	-	5	2592	c.2071G>C	c.(2071-2073)Gag>Cag	p.E691Q	ZNF836_ENST00000597252.1_Missense_Mutation_p.E691Q|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TAAGGTTTCTCTCCAGTATGA	0.383000													27	34					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945083	151945083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:151945083C>T	ENST00000355193.2	-	14	2654	c.2436G>A	c.(2434-2436)atG>atA	p.M812I	KMT2C_ENST00000262189.6_Missense_Mutation_p.M812I					lysine (K)-specific methyltransferase 2C																		AAGTTGTTGGCATGATGTTTC	0.448000													13	280					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264870	48264870	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:48264870C>T	ENST00000225964.5	-	46	3516	c.3398G>A	c.(3397-3399)gGa>gAa	p.G1133E		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1133	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCAGAGGCTCCAGAGGGACC	0.602000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						13	13					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889466	51889466	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:51889466G>A	ENST00000371117.3	-	32	5417	c.5142C>T	c.(5140-5142)taC>taT	p.Y1714Y	PKHD1_ENST00000340994.4_Silent_p.Y1714Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1714	IPT/TIG 12; atypical.				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)					CTCTGACGTGGTACTCCCCGG	0.517000													24	27					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80197043	80197043	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:80197043C>T	ENST00000392959.1	-	9	2383	c.1772G>A	c.(1771-1773)gGt>gAt	p.G591D	LCA5_ENST00000369846.4_Missense_Mutation_p.G591D	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	591					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TAAATCTACACCATCTTTACT	0.353000													23	38					0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95226885	95226885	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:95226885C>A	ENST00000237853.4	-	10	2032	c.1683G>T	c.(1681-1683)agG>agT	p.R561S	ELL2_ENST00000431061.2_Missense_Mutation_p.R311S	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	561					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		p.R561S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CAGTCTCCATCCTGGCATGCA	0.388000													41	21					1.8453e-21	2.59908e-21	1	1	0
SBF1	6305	broad.mit.edu	37	22	50902991	50902991	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:50902991C>A	ENST00000380817.2	-	14	1791	c.1608G>T	c.(1606-1608)agG>agT	p.R536S	SBF1_ENST00000390679.3_Missense_Mutation_p.R536S|SBF1_ENST00000348911.6_Missense_Mutation_p.R537S	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	536					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)		GCACGGTGGTCCTCCTCTCGG	0.692000													26	47					5.77227e-19	7.87937e-19	1	1	0
NFATC2	4773	broad.mit.edu	37	20	50133389	50133389	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:50133389G>A	ENST00000371564.3	-	3	1485	c.1266C>T	c.(1264-1266)gcC>gcT	p.A422A	NFATC2_ENST00000414705.1_Silent_p.A402A|NFATC2_ENST00000396009.3_Silent_p.A422A	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	422	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCTCATAGTGGGCCCGGTGAT	0.587000													12	29					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27772733	27772733	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:27772733T>A	ENST00000333743.6	+	8	1274	c.1020T>A	c.(1018-1020)taT>taA	p.Y340*	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	340					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TCAACTACTATTCCAGCTGTA	0.537000													8	2					0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25610229	25610229	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:25610229C>T	ENST00000406818.3	-	18	2003	c.1754G>A	c.(1753-1755)cGc>cAc	p.R585H	DTNB_ENST00000545439.1_Missense_Mutation_p.R374H|DTNB_ENST00000407186.1_Missense_Mutation_p.R548H|DTNB_ENST00000496972.2_Missense_Mutation_p.R521H|DTNB_ENST00000404103.3_Intron|DTNB_ENST00000288642.8_Intron|DTNB_ENST00000407661.3_Missense_Mutation_p.R585H|DTNB_ENST00000407038.3_Intron|DTNB_ENST00000405222.1_Intron	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	585						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTCATTGCGGAGGTTTCT	0.587000													11	20					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97051502	97051502	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:97051502C>G	ENST00000326771.2	+	3	393	c.13C>G	c.(13-15)Cac>Gac	p.H5D	FHL5_ENST00000541107.1_Missense_Mutation_p.H5D	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	5						nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GACAACTGCTCACTTTTACTG	0.313000													17	18					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304678	10304678	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:10304678G>C	ENST00000403437.2	-	24	3116	c.3022C>G	c.(3022-3024)Cag>Gag	p.Q1008E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1008					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCAGGGTCTGCTGGTGGGTC	0.468000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				62	59					0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33982365	33982365	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:33982365G>T	ENST00000382102.3	-	2	595	c.538C>A	c.(538-540)Ctc>Atc	p.L180I	SLC45A2_ENST00000345083.5_Missense_Mutation_p.L180I|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000296589.4_Missense_Mutation_p.L180I|SLC45A2_ENST00000509381.1_Missense_Mutation_p.L180I	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	180					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TGGTAGTGGAGGCCCTTCTCC	0.493000													29	23					4.06085e-26	5.79654e-26	1	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762719	130762719	+	Silent	SNP	C	C	G	rs73771841	byFrequency	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:130762719C>G	ENST00000392429.1	+	2	3530	c.1152C>G	c.(1150-1152)tcC>tcG	p.S384S	TMEM200A_ENST00000545622.1_Silent_p.S384S|TMEM200A_ENST00000296978.3_Silent_p.S384S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	384						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)		AGTTTGGGTCCAATACATCCT	0.527000													19	29					0	0	1	0	0
IFI30	10437	broad.mit.edu	37	19	18286135	18286135	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:18286135T>C	ENST00000407280.2	+	3	398	c.330T>C	c.(328-330)agT>agC	p.S110S	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	110					antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						AAAATGTCAGTGGCAGGTGGG	0.622000													4	6					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196796048	196796048	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:196796048A>G	ENST00000320493.5	+	3	431	c.343A>G	c.(343-345)Aac>Gac	p.N115D	CFHR1_ENST00000367424.3_Missense_Mutation_p.N115D|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000498248.1_3'UTR	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	115	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AATTATTTGCAACACAGGATA	0.428000													24	48					0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102442560	102442560	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:102442560C>A	ENST00000399004.2	-	3	287	c.193G>T	c.(193-195)Gtt>Ttt	p.V65F	GIN1_ENST00000508629.1_Missense_Mutation_p.V65F	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	65					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TCTTCTGAAACAATTACCAAA	0.338000													3	3					6.4e-05	7.05218e-05	1	1	0
LCE2C	353140	broad.mit.edu	37	1	152648469	152648469	+	Splice_Site	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:152648469A>T	ENST00000368783.1	+	2	34		c.e2-1		LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C						keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTATCTTTCAGGTTGACTAA	0.403000													20	40					0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40767015	40767015	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:40767015G>A	ENST00000251413.3	+	11	1374	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	438					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GTACCATGCGGCCACACGGCC	0.582000													22	56					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103048393	103048393	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:103048393C>A	ENST00000306312.3	-	8	1054	c.793G>T	c.(793-795)Ggg>Tgg	p.G265W	SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393735.2_Missense_Mutation_p.G265W|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G265W|SLC26A5_ENST00000356767.4_Missense_Mutation_p.G265W|SLC26A5_ENST00000393729.1_Missense_Mutation_p.G228W|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000393723.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000432958.2_Missense_Mutation_p.G265W	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	265					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ACCATCAGCCCGACGCCTAGG	0.443000													18	41					6.94344e-10	8.55445e-10	1	1	0
CAPRIN2	65981	broad.mit.edu	37	12	30881705	30881705	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:30881705C>G	ENST00000251071.5	-	8	2409	c.1659G>C	c.(1657-1659)gaG>gaC	p.E553D	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.E553D|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E553D|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E220D|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E553D|CAPRIN2_ENST00000538387.1_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	553					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTTTTTGACTCTCAACATTGT	0.468000													6	110					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149528848	149528848	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:149528848A>T	ENST00000258484.6	+	10	1646	c.1612A>T	c.(1612-1614)Agt>Tgt	p.S538C		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	538					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TTTACAGGACAGTGATAGTGA	0.378000													10	87					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36091623	36091623	+	Missense_Mutation	SNP	G	G	T	rs150268130		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:36091623G>T	ENST00000225893.4	-	4	1369	c.1008C>A	c.(1006-1008)caC>caA	p.H336Q	HNF1B_ENST00000561193.1_Missense_Mutation_p.H310Q|HNF1B_ENST00000560016.1_Missense_Mutation_p.H336Q|HNF1B_ENST00000427275.2_Missense_Mutation_p.H310Q	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	336					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGGGCTGGTGGTGGGGGGAGC	0.602000													7	14					8.12818e-05	8.93595e-05	1	1	0
LRIF1	55791	broad.mit.edu	37	1	111492686	111492686	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:111492686T>C	ENST00000369763.4	-	3	2046	c.1656A>G	c.(1654-1656)aaA>aaG	p.K552K	LRIF1_ENST00000494675.1_Silent_p.K16K|LRIF1_ENST00000485275.2_Silent_p.K16K|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CTTGAGAATCTTTCTTGTCAT	0.358000													11	18					0	0	1	0	0
SAR1A	56681	broad.mit.edu	37	10	71912347	71912347	+	Splice_Site	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:71912347C>T	ENST00000373238.1	-	7	839	c.480_splice	c.e7-1	p.G161_splice	SAR1A_ENST00000431664.2_Splice_Site_p.G161_splice|SAR1A_ENST00000373242.1_Splice_Site_p.G161_splice|SAR1A_ENST00000458634.2_Splice_Site_p.G118_splice|SAR1A_ENST00000373241.4_Splice_Site_p.G161_splice			Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)	161					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GGTCACATTCCCCTAAAGGAG	0.483000													14	6					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45614752	45614752	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:45614752C>A	ENST00000297323.7	+	1	632	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	204					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACCTTGGTCCCCGCCAAGCG	0.652000													13	24					2.23348e-06	2.53415e-06	1	1	0
AIMP2	7965	broad.mit.edu	37	7	6057622	6057622	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:6057622A>G	ENST00000223029.3	+	3	639	c.520A>G	c.(520-522)Aaa>Gaa	p.K174E	AIMP2_ENST00000395236.2_Missense_Mutation_p.K105E|AIMP2_ENST00000400479.2_Missense_Mutation_p.K96E	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	174	Interaction with TP53.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAACAGAATAAAAAACAGCC	0.502000													13	20					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509351	71509351	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:71509351T>C	ENST00000396073.3	+	9	2489	c.2208T>C	c.(2206-2208)acT>acC	p.T736T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	736					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAGCTTCTACTATGCCACCAC	0.428000													16	52					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27772638	27772638	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:27772638C>A	ENST00000333743.6	+	8	1179	c.925C>A	c.(925-927)Cgc>Agc	p.R309S	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	309					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GTCCTTGCCACGCGTGTCCTA	0.562000													14	18					3.27435e-08	3.89839e-08	1	1	0
OR13C3	138803	broad.mit.edu	37	9	107299059	107299059	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:107299059C>A	ENST00000374781.2	-	1	78	c.36G>T	c.(34-36)ttG>ttT	p.L12F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TATTTACTGCCAAGAAACAAA	0.353000													16	22					3.52763e-06	3.96859e-06	1	1	0
PTPRT	11122	broad.mit.edu	37	20	41306786	41306786	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:41306786G>T	ENST00000373198.3	-	7	1108	c.873C>A	c.(871-873)ccC>ccA	p.P291P	PTPRT_ENST00000373193.3_Silent_p.P291P|PTPRT_ENST00000373201.1_Silent_p.P291P|PTPRT_ENST00000373187.1_Silent_p.P291P|PTPRT_ENST00000356100.2_Silent_p.P291P|PTPRT_ENST00000373190.1_Silent_p.P291P|PTPRT_ENST00000373184.1_Silent_p.P291P	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	291	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGGAGCAATGGGCGTGGGAG	0.517000													10	14					0.0692343	0.0708351	1	1	0
CACNA1B	774	broad.mit.edu	37	9	141016147	141016147	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:141016147T>A	ENST00000277549.5	+	47	6867	c.4298T>A	c.(4297-4299)cTg>cAg	p.L1433Q	CACNA1B_ENST00000371363.1_Missense_Mutation_p.L2237Q|CACNA1B_ENST00000277551.2_Missense_Mutation_p.C2177S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L2240Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L2238Q|CACNA1B_ENST00000371372.1_Missense_Mutation_p.L2239Q			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2239					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AACGCCCTGCTGCAGAGAGAC	0.672000													23	25					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892241	22892241	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:22892241T>G	ENST00000543184.1	-	4	1722	c.860A>C	c.(859-861)cAg>cCg	p.Q287P	PRAME_ENST00000398743.2_Missense_Mutation_p.Q287P|PRAME_ENST00000398741.1_Missense_Mutation_p.Q287P|PRAME_ENST00000405655.3_Missense_Mutation_p.Q287P|PRAME_ENST00000402697.1_Missense_Mutation_p.Q287P|PRAME_ENST00000539862.1_Missense_Mutation_p.Q271P|PRAME_ENST00000424204.2_Missense_Mutation_p.Q271P	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	287					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGAGGTGAACTGGGCGATATA	0.522000													19	44					0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	169977769	169977769	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:169977769C>T	ENST00000295797.4	+	3	541	c.236C>T	c.(235-237)aCa>aTa	p.T79I		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	79	Interaction with PARD6A.|OPR.|Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GACCCGTGTACAGTATCATCT	0.323000													17	41					0	0	1	0	0
MEMO1	51072	broad.mit.edu	37	2	32093471	32093471	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:32093471T>G	ENST00000295065.4	-	9	1162	c.853A>C	c.(853-855)Agt>Cgt	p.S285R	MEMO1_ENST00000426310.2_Missense_Mutation_p.S262R|MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000404530.1_Missense_Mutation_p.S285R|MEMO1_ENST00000379383.3_Missense_Mutation_p.S288R	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	285					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					CTCACTGAACTGTCTTGCCAG	0.478000													5	7					0	0	1	0	0
DCDC2B	149069	broad.mit.edu	37	1	32678210	32678210	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:32678210C>A	ENST00000409358.1	+	5	647	c.647C>A	c.(646-648)cCc>cAc	p.P216H		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	216					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTGCTGGTGCCCAGCCCCTCC	0.602000													20	49					3.99206e-14	5.23403e-14	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32508301	32508301	+	Missense_Mutation	SNP	G	G	A	rs148086955		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:32508301G>A	ENST00000286827.3	-	24	4304	c.3833C>T	c.(3832-3834)cCg>cTg	p.P1278L	TIAM1_ENST00000541036.1_Missense_Mutation_p.P1218L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1278	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGAGGCCGGCGGGTTCAGCCA	0.507000													26	8					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56138609	56138609	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:56138609C>A	ENST00000373965.2	-	4	645	c.251G>T	c.(250-252)tGg>tTg	p.W84L	PCDH15_ENST00000414778.1_Missense_Mutation_p.W89L|PCDH15_ENST00000395440.1_Missense_Mutation_p.W84L|PCDH15_ENST00000320301.6_Missense_Mutation_p.W84L|PCDH15_ENST00000373957.3_Missense_Mutation_p.W62L|PCDH15_ENST00000361849.3_Missense_Mutation_p.W84L|PCDH15_ENST00000437009.1_Missense_Mutation_p.W84L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395438.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395442.1_Missense_Mutation_p.W84L|PCDH15_ENST00000373955.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395446.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395433.1_Missense_Mutation_p.W62L|PCDH15_ENST00000395432.2_Missense_Mutation_p.W84L|PCDH15_ENST00000395430.1_Missense_Mutation_p.W84L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	84	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATCAACACCCAGTAATCCAC	0.423000										HNSCC(58;0.16)			47	50					9.82405e-12	1.24798e-11	1	1	0
SYCP2	10388	broad.mit.edu	37	20	58449032	58449032	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:58449032G>T	ENST00000357552.3	-	35	3659	c.3434C>A	c.(3433-3435)tCa>tAa	p.S1145*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.S1145*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1145					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GGATTCAAGTGATGAAGTTTT	0.328000													9	20					0.000442599	0.000479633	1	1	0
CEP250	11190	broad.mit.edu	37	20	34089671	34089671	+	Splice_Site	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:34089671G>C	ENST00000397527.1	+	29	4618		c.e29-1		CEP250_ENST00000342580.4_Splice_Site	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa						centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			tcttctcAAAGAGAAATCCAA	0.478000													7	7					0	0	1	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860843	27860843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:27860843C>A	ENST00000359611.2	-	1	120	c.85G>T	c.(85-87)Gga>Tga	p.G29*	HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	29					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						TGCACTCGTCCTACAGGAAAT	0.647000													21	27					8.34094e-07	9.54534e-07	1	1	0
CHDC2	286464	broad.mit.edu	37	X	36091373	36091373	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:36091373A>G	ENST00000378660.1	+	4	496	c.308A>G	c.(307-309)aAg>aGg	p.K103R	CHDC2_ENST00000313548.4_Missense_Mutation_p.K103R					calponin homology domain containing 2																		GAAGGAACAAAGGCACACTAC	0.413000													19	17					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380698	108380698	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:108380698T>A	ENST00000265843.4	-	6	5646	c.5536A>T	c.(5536-5538)Agt>Tgt	p.S1846C	EXPH5_ENST00000443411.1_Missense_Mutation_p.S1658C|EXPH5_ENST00000428840.1_Missense_Mutation_p.S1770C|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1839C	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1846					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATCTTCGACTGTACCCATTG	0.463000													14	29					0	0	1	0	0
MAPK1IP1L	93487	broad.mit.edu	37	14	55529486	55529486	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:55529486G>T	ENST00000395468.3	+	3	346	c.169G>T	c.(169-171)Gca>Tca	p.A57S	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	57	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						CCCACCAAGTGCAACACCCTC	0.582000													19	47					1.96292e-10	2.4525e-10	1	1	0
NOTCH3	4854	broad.mit.edu	37	19	15295220	15295220	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:15295220C>A	ENST00000263388.2	-	16	2527	c.2452G>T	c.(2452-2454)Gca>Tca	p.A818S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	818	EGF-like 21; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.A818S(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCACAGGGTGCGGGGCCAGCA	0.612000													16	40					3.99206e-14	5.23403e-14	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38805036	38805036	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:38805036G>A	ENST00000449082.2	-	5	650	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	217					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TAAGAACTCTGAATGTCCGCA	0.458000													30	19					0	0	1	0	0
PTN	5764	broad.mit.edu	37	7	136938242	136938242	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:136938242C>A	ENST00000348225.2	-	3	685	c.258G>T	c.(256-258)aaG>aaT	p.K86N	PTN_ENST00000393083.2_Missense_Mutation_p.K86N	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	86					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.K86N(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TGCAGGGGATCTTACATCTCT	0.502000													23	12					9.39395e-14	1.22259e-13	1	1	0
RAB11FIP4	84440	broad.mit.edu	37	17	29844670	29844670	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:29844670G>T	ENST00000325874.8	+	4	567	c.336_splice	c.e4-1	p.G113_splice	RAB11FIP4_ENST00000394744.2_Splice_Site_p.G11_splice	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	113	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CTTTCCCAGGGCAGCGAGGTC	0.597000													3	9					0.00909568	0.00954507	1	1	0
CCDC50	152137	broad.mit.edu	37	3	191074882	191074882	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:191074882C>G	ENST00000392455.3	+	2	653	c.55C>G	c.(55-57)Cga>Gga	p.R19G	CCDC50_ENST00000392456.3_Missense_Mutation_p.R19G	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	19						cytoplasm	protein binding	p.R19G(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TCTAGTATGCCGAGATTTTGC	0.378000													14	16					0	0	1	0	0
TCL1B	9623	broad.mit.edu	37	14	96152827	96152827	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:96152827G>T	ENST00000340722.7	+	1	74	c.23G>T	c.(22-24)cGt>cTt	p.R8L	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	8										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GCTTCTGTGCGTCTAGGGGTG	0.602000													17	106					5.35267e-07	6.17884e-07	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24924386	24924386	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:24924386G>C	ENST00000329468.2	+	1	3846	c.3372G>C	c.(3370-3372)ctG>ctC	p.L1124L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGTGCATCCTGCAGCACACAT	0.473000													13	78					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493471	60493471	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:60493471T>C	ENST00000450662.2	+	12	1325	c.1254T>C	c.(1252-1254)tcT>tcC	p.S418S	EFCAB3_ENST00000305286.3_Silent_p.S366S	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	366							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GGATGGACTCTAGAAATGAGT	0.403000													28	39					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47548772	47548772	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:47548772G>C	ENST00000273859.3	+	10	1797	c.1528G>C	c.(1528-1530)Gga>Cga	p.G510R	ATP10D_ENST00000504445.1_Missense_Mutation_p.G495R	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	510					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGGGCCTTTGGGAAATAAGCC	0.483000													24	35					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237659936	237659936	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:237659936G>T	ENST00000366574.2	+	20	2404	c.2087G>T	c.(2086-2088)gGc>gTc	p.G696V	RYR2_ENST00000360064.6_Missense_Mutation_p.G694V|RYR2_ENST00000542537.1_Missense_Mutation_p.G680V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	696	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGCGAGTGGGCTGGGCTTCC	0.507000													30	26					7.01153e-11	8.84353e-11	1	1	0
ZNF846	162993	broad.mit.edu	37	19	9868423	9868423	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:9868423G>A	ENST00000397902.2	-	6	1743	c.1330C>T	c.(1330-1332)Cac>Tac	p.H444Y	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H444D(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCTCCAGTGTGAGTTCTTAAA	0.438000													19	24					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70989856	70989856	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:70989856C>A	ENST00000256389.3	-	2	2013	c.1769G>T	c.(1768-1770)cGt>cTt	p.R590L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	540	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GTGACCGAAACGGTTTCCTTG	0.423000													42	40					2.6416e-12	3.39634e-12	1	1	0
TPR	7175	broad.mit.edu	37	1	186302298	186302298	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:186302298G>A	ENST00000367478.3	-	37	5707	c.5411C>T	c.(5410-5412)tCa>tTa	p.S1804L		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1804					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCAACTGGTGAACTCTGAAC	0.408000			T	NTRK1	papillary thyroid								10	27					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47944861	47944861	+	Silent	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:47944861A>T	ENST00000289672.2	-	11	1634	c.1584T>A	c.(1582-1584)gcT>gcA	p.A528A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	528	PKD 1.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCTTGGTAACAGCTGTAAATG	0.418000													32	50					0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	35009099	35009099	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:35009099G>T	ENST00000310974.4	-	9	885	c.741C>A	c.(739-741)tcC>tcA	p.S247S	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	247						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAAATACATTGGAAATGCAGA	0.348000													18	21					4.96729e-08	5.8614e-08	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20482397	20482397	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:20482397G>T	ENST00000504154.1	+	6	778	c.526G>T	c.(526-528)Gac>Tac	p.D176Y	SLIT2_ENST00000503823.1_Missense_Mutation_p.D176Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.D176Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.D176Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	176					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCTCTCCGGGACCTGGAAGT	0.438000													21	53					4.26978e-12	5.46326e-12	1	1	0
KCNK6	9424	broad.mit.edu	37	19	38810813	38810813	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:38810813G>T	ENST00000263372.3	+	1	330	c.223G>T	c.(223-225)Gtc>Ttc	p.V75F		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	75						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GCTGGGGCGGGTCGTGCTTGC	0.716000													9	18					1.12685e-05	1.25705e-05	1	1	0
PRB1	5542	broad.mit.edu	37	12	11506728	11506728	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:11506728T>A	ENST00000500254.2	-	3	346	c.309A>T	c.(307-309)caA>caT	p.Q103H	PRB1_ENST00000545626.1_Missense_Mutation_p.Q103H|PRB1_ENST00000546254.1_Missense_Mutation_p.Q103H	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	286	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTTACCTCCTTGTGGGGGTG	0.622000													45	726					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104054501	104054501	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:104054501G>T	ENST00000388887.2	+	17	2033	c.1829G>T	c.(1828-1830)aGc>aTc	p.S610I		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	610	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						CACATCAGGAGCATGGCCAAC	0.478000													21	38					2.52088e-20	3.51335e-20	1	1	0
APBA1	320	broad.mit.edu	37	9	72131021	72131021	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:72131021T>C	ENST00000265381.4	-	2	1328	c.1106A>G	c.(1105-1107)tAc>tGc	p.Y369C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	369	Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCGGGGGTGTAAGGCGAACG	0.597000													33	59					0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173337529	173337529	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:173337529C>G	ENST00000265085.5	+	2	2583	c.1129C>G	c.(1129-1131)Cgc>Ggc	p.R377G	CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377G|CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377G|CPEB4_ENST00000519835.1_Missense_Mutation_p.R377G	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	377							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTACAGGATCGCCCCAGGAC	0.368000													45	27					0	0	1	0	0
ATOH1	474	broad.mit.edu	37	4	94750208	94750208	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:94750208G>C	ENST00000306011.3	+	1	167	c.131G>C	c.(130-132)aGa>aCa	p.R44T		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	44					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		TTGCAGGCGAGAGAGCATCCC	0.682000													8	39					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133911137	133911137	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:133911137C>A	ENST00000220616.4	+	14	3352	c.3312C>A	c.(3310-3312)ttC>ttA	p.F1104L	TG_ENST00000377869.1_Missense_Mutation_p.F1104L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1104	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.F1104F(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGACCTGTTCGTCCCAGCCT	0.517000													11	29					1.08611e-07	1.27312e-07	1	1	0
VCAN	1462	broad.mit.edu	37	5	82789364	82789364	+	Splice_Site	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:82789364G>A	ENST00000265077.3	+	4	1010		c.e4-1		VCAN_ENST00000512590.2_Splice_Site|VCAN_ENST00000513984.1_Splice_Site|VCAN_ENST00000502527.2_Splice_Site|VCAN_ENST00000343200.5_Splice_Site|VCAN_ENST00000342785.4_Splice_Site	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican						cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGTTTTTGCAGGGGTTGTGTT	0.463000													23	13					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294737	5294737	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:5294737G>T	ENST00000546004.1	-	2	525	c.279C>A	c.(277-279)gcC>gcA	p.A93A	PROKR2_ENST00000217270.3_Silent_p.A93A			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	93						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGGCCAGGTTGGCAATGAGCA	0.572000										HNSCC(71;0.22)			9	37					0.0581538	0.0597285	1	1	0
ZMYND8	23613	broad.mit.edu	37	20	45927651	45927651	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:45927651G>A	ENST00000311275.7	-	4	468	c.215C>T	c.(214-216)cCa>cTa	p.P72L	ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P92L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P92L|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000468376.2_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P72L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P92L|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P72L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P99L			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	72							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGTGGTGAGTGGCTGCTTCAT	0.453000													20	35					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142539729	142539729	+	Silent	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:142539729T>A	ENST00000367630.4	+	8	931	c.873T>A	c.(871-873)gcT>gcA	p.A291A	VTA1_ENST00000452973.2_Silent_p.A206A|VTA1_ENST00000367621.1_Silent_p.A233A	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	291	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TAAGCACTGCTGTCCAGAATC	0.443000													20	35					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023446	6023446	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:6023446C>A	ENST00000330728.4	-	1	978	c.933G>T	c.(931-933)ctG>ctT	p.L311L		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACCAGAACCAGCAGGACTG	0.552000													5	15					0.014758	0.0153959	1	1	0
AREL1	9870	broad.mit.edu	37	14	75136663	75136663	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:75136663C>A	ENST00000356357.4	-	14	2290	c.1775G>T	c.(1774-1776)cGt>cTt	p.R592L	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		GTAATGCATACGCAGTCCTAT	0.493000													18	42					6.94344e-10	8.55445e-10	1	1	0
CCT8L2	150160	broad.mit.edu	37	22	17073429	17073429	+	Silent	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:17073429T>A	ENST00000359963.3	-	1	271	c.12A>T	c.(10-12)acA>acT	p.T4T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	4					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGAAGGGACTGTGCTGTCCA	0.627000													19	23					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777182	123777182	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:123777182C>T	ENST00000321355.2	+	1	74	c.44C>T	c.(43-45)tCa>tTa	p.S15L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TTTCTTCTTTCAGGATTAACT	0.408000													33	26					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14650641	14650641	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:14650641G>A	ENST00000544627.1	+	15	3791	c.3471G>A	c.(3469-3471)caG>caA	p.Q1157Q	ATF7IP_ENST00000261168.4_Silent_p.Q1149Q|ATF7IP_ENST00000540793.1_Silent_p.Q1149Q|ATF7IP_ENST00000536444.1_Silent_p.Q1148Q			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1149	Fibronectin type-III.|Interaction with MBD1.				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						CACAACCACAGCGTCTGCCCC	0.522000													13	31					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17236767	17236767	+	Splice_Site	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:17236767T>A	ENST00000285681.2	+	20	2981		c.e20+2		USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Splice_Site|USP25_ENST00000400183.2_Splice_Site			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25						protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGATGAAAGGTAATTTGAAAG	0.294000													4	2					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347268	48347268	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:48347268G>T	ENST00000319856.4	+	1	797	c.776G>T	c.(775-777)tGc>tTc	p.C259F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GATGGGAGATGCAAAGCCCTC	0.468000													13	49					1.61879e-10	2.02731e-10	1	1	0
LDB3	11155	broad.mit.edu	37	10	88477870	88477870	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:88477870T>A	ENST00000429277.2	+	11	1986	c.1841T>A	c.(1840-1842)cTg>cAg	p.L614Q	LDB3_ENST00000458213.2_Missense_Mutation_p.L499Q|LDB3_ENST00000352360.5_Missense_Mutation_p.L352Q|LDB3_ENST00000263066.6_Missense_Mutation_p.L499Q|LDB3_ENST00000361373.4_Missense_Mutation_p.L609Q	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	609	LIM zinc-binding 2.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TTTGCCCCGCTGTGTGCCAAG	0.522000													81	16					0	0	1	0	0
ZNF684	127396	broad.mit.edu	37	1	41012254	41012254	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:41012254G>C	ENST00000372699.3	+	5	510	c.259G>C	c.(259-261)Gat>Cat	p.D87H	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CCCACTTGTTGATGAACCAGG	0.343000													4	38					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26506860	26506860	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:26506860G>A	ENST00000376261.3	+	3	729	c.226G>A	c.(226-228)Gac>Aac	p.D76N	GAD2_ENST00000259271.3_Missense_Mutation_p.D76N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	76					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTGCGCCTGCGACCAGAAGCC	0.697000													13	26					0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61137132	61137132	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:61137132T>C	ENST00000317995.4	-	6	853	c.589A>G	c.(589-591)Aca>Gca	p.T197A	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	197					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CAAGGTATTGTTTTGGACTTC	0.264000													32	83					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179535851	179535851	+	Silent	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:179535851A>T	ENST00000589042.1	-	156	35498	c.35274T>A	c.(35272-35274)acT>acA	p.T11758T	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.T11384T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.T10457T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9876	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)			GAACAACTTTAGTGGGCGGTT	0.363000													11	16					0	0	1	0	0
CDADC1	81602	broad.mit.edu	37	13	49823102	49823102	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr13:49823102G>T	ENST00000251108.6	+	2	290		c.e2+1		CDADC1_ENST00000444959.1_Splice_Site|CDADC1_ENST00000538056.1_Splice_Site|CDADC1_ENST00000496952.1_Splice_Site	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1								hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		AAAATCTCAGGTATAATTTGT	0.408000													36	23					2.47316e-13	3.21087e-13	1	1	0
GRM5	2915	broad.mit.edu	37	11	88323788	88323788	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:88323788C>A	ENST00000418177.2	-	7	2038	c.1671G>T	c.(1669-1671)tgG>tgT	p.W557C	GRM5_ENST00000393297.1_Missense_Mutation_p.W557C|GRM5_ENST00000305447.4_Missense_Mutation_p.W557C|GRM5_ENST00000455756.2_Missense_Mutation_p.W557C|GRM5_ENST00000305432.5_Missense_Mutation_p.W557C			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	557					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CATCAGTGGGCCAAGACCCCA	0.473000													16	33					4.7546e-09	5.76414e-09	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21639713	21639713	+	Silent	SNP	A	A	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:21639713A>C	ENST00000328843.6	+	15	3007	c.2976A>C	c.(2974-2976)acA>acC	p.T992T	DNAH11_ENST00000409508.3_Silent_p.T992T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	992	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAATAGCAACACACCTGGAAA	0.358000									Kartagener syndrome				14	29					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70550989	70550989	+	Missense_Mutation	SNP	C	C	T	rs111626231		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:70550989C>T	ENST00000260128.4	+	21	3164	c.2447C>T	c.(2446-2448)aCg>aTg	p.T816M	SULF1_ENST00000402687.4_Missense_Mutation_p.T816M|SULF1_ENST00000419716.3_Missense_Mutation_p.T816M|SULF1_ENST00000458141.2_Missense_Mutation_p.T816M|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	816					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACAGTGCACACGGTAGAACGA	0.388000													24	84					0	0	1	0	0
BOLL	66037	broad.mit.edu	37	2	198621153	198621153	+	Splice_Site	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:198621153T>G	ENST00000321801.7	-	9	1334	c.765_splice	c.e9+1	p.E255_splice	BOLL_ENST00000392296.4_Splice_Site_p.E243_splice|BOLL_ENST00000433157.1_Splice_Site_p.E243_splice|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000282278.8_Splice_Site_p.E134_splice|BOLL_ENST00000430004.1_Splice_Site_p.E265_splice	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	243					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						AATACATACCTCTGGAACTGA	0.363000													8	16					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36671702	36671702	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:36671702C>A	ENST00000431169.1	-	6	761	c.461G>T	c.(460-462)aGa>aTa	p.R154I	AOAH_ENST00000258749.5_Missense_Mutation_p.R154I|AOAH_ENST00000535891.1_Missense_Mutation_p.R122I	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	154					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AGAACCACTTCTAGAATATTT	0.388000													7	12					0.0381472	0.0393324	1	1	0
AFF3	3899	broad.mit.edu	37	2	100209883	100209883	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:100209883G>A	ENST00000317233.4	-	14	2475	c.2240C>T	c.(2239-2241)cCc>cTc	p.P747L	AFF3_ENST00000409579.1_Missense_Mutation_p.P772L|AFF3_ENST00000409236.1_Missense_Mutation_p.P747L|AFF3_ENST00000356421.2_Missense_Mutation_p.P772L	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	747					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						CCGGCCAAAGGGGACCAGTGT	0.577000													29	38					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79980395	79980395	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:79980395A>T	ENST00000360280.3	+	60	8491	c.8231A>T	c.(8230-8232)gAt>gTt	p.D2744V	VPS13A_ENST00000376634.4_Missense_Mutation_p.D2744V|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2705V|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2744V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2744					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTCATAAAGATATAGAAGCT	0.323000													7	24					0	0	1	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178080842	178080842	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:178080842A>T	ENST00000411529.2	+	4	464	c.413A>T	c.(412-414)gAc>gTc	p.D138V	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.D160V|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.D160V	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	160	RRM 2.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GTTATGGAAGACAGGCAGAGT	0.308000													16	18					0	0	1	0	0
PDDC1	347862	broad.mit.edu	37	11	773589	773589	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:773589C>A	ENST00000319863.8	-	4	309	c.288G>T	c.(286-288)ggG>ggT	p.G96G	PDDC1_ENST00000397472.2_Silent_p.G96G|PDDC1_ENST00000524550.1_Intron|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000526325.1_Silent_p.G96G|PDDC1_ENST00000442059.2_Silent_p.G46G	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	96						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGTCAGGGCCCCAGGACAGC	0.642000													8	18					0.000274275	0.000299056	1	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362864	105362864	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:105362864G>C	ENST00000369774.4	-	15	2387	c.2111C>G	c.(2110-2112)tCt>tGt	p.S704C	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S539C|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S571C|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S676C|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	704	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ggaggaggaagaggaggagCA	0.577000													25	100					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53451445	53451445	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:53451445G>T	ENST00000314250.6	+	12	1230	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	TENC1_ENST00000379902.3_Missense_Mutation_p.A190S|TENC1_ENST00000546602.1_Missense_Mutation_p.A314S|TENC1_ENST00000314276.3_Missense_Mutation_p.A324S|TENC1_ENST00000451358.1_Missense_Mutation_p.A314S|TENC1_ENST00000552570.1_Missense_Mutation_p.A314S|TENC1_ENST00000549700.1_Missense_Mutation_p.A314S	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	314	C2 tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CATGCTGCCAGCCTTTGAACC	0.562000													79	116					6.43283e-47	9.51485e-47	1	1	0
DPYSL3	1809	broad.mit.edu	37	5	146777234	146777234	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:146777234T>C	ENST00000343218.5	-	12	1995	c.1798A>G	c.(1798-1800)Agg>Ggg	p.R600G	DPYSL3_ENST00000534907.1_Missense_Mutation_p.R112G|DPYSL3_ENST00000398514.3_Missense_Mutation_p.R486G	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	486					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTACCTTCCTCCGTGCTTTA	0.537000													28	18					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87726497	87726497	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:87726497G>C	ENST00000436978.1	+	44	7215	c.6735G>C	c.(6733-6735)aaG>aaC	p.K2245N	PTPN13_ENST00000411767.2_Missense_Mutation_p.K2240N|PTPN13_ENST00000316707.6_Missense_Mutation_p.K2049N|PTPN13_ENST00000427191.2_Missense_Mutation_p.K2221N|PTPN13_ENST00000511467.1_Missense_Mutation_p.K2245N	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2240	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAGAAGGAAGAACAGATATA	0.289000													5	29					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738286	19738286	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:19738286T>C	ENST00000222567.5	-	4	740	c.670A>G	c.(670-672)Aaa>Gaa	p.K224E		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	224	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TTAGGTTTTTTAGCAGCTTCC	0.358000													59	95					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151151761	151151761	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:151151761C>T	ENST00000367328.1	+	16	1826	c.1514C>T	c.(1513-1515)cCg>cTg	p.P505L	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P505L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	505					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCAGCAAGGCCGTCTCCTGCC	0.507000													14	24					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	122004328	122004328	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:122004328G>T	ENST00000265922.3	-	4	1037	c.576C>A	c.(574-576)atC>atA	p.I192I	DBC1_ENST00000373964.2_Silent_p.I192I	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		192	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGTACCTTGATTGCTCCAG	0.483000													48	45					3.39706e-21	4.75946e-21	1	1	0
AMPD2	271	broad.mit.edu	37	1	110171389	110171389	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:110171389delC	ENST00000256578.3	+	12	2054	c.1694delC	c.(1693-1695)tcfs	p.S565fs	RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Frame_Shift_Del_p.S446fs|AMPD2_ENST00000342115.4_Frame_Shift_Del_p.S484fs|AMPD2_ENST00000358729.4_Frame_Shift_Del_p.S490fs|AMPD2_ENST00000528667.1_Frame_Shift_Del_p.S565fs|AMPD2_ENST00000528454.1_Frame_Shift_Del_p.S447fs	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	565					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CGCGTGCACTCCCCCAACGTG	0.647													2	4	---	---	---	---					
SPTA1	6708	broad.mit.edu	37	1	158623181	158623181	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:158623181delC	ENST00000368148.3	-	22	3251	c.3071delG	c.(3070-3072)gcfs	p.G1024fs	SPTA1_ENST00000368147.3_Frame_Shift_Del_p.G1024fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1024	SH3.				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)					TGGGACAATGCCCTGATGATC	0.552													22	36	---	---	---	---					
EIF2AK3	9451	broad.mit.edu	37	2	88857359	88857359	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:88857359delA	ENST00000303236.3	-	17	3547	c.3246delT	c.(3244-3246)ttfs	p.F1082fs	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.F931fs	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1082					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTTTTCCTGGAAAGTCCAAGT	0.458													60	76	---	---	---	---					
BARD1	580	broad.mit.edu	37	2	215674167	215674167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:215674167delG	ENST00000260947.4	-	1	261	c.127delC	c.(127-129)gcfs	p.R43fs	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	43	Interaction with BRCA1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTCCAGGCGGTCGAGCGCG	0.701									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	3	---	---	---	---					
LOC728323	728323	broad.mit.edu	37	2	243056967	243056967	+	RNA	DEL	T	T	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:243056967delT	ENST00000456398.1	+	0	413																											CAGTGCTATCTTATGAAATAA	0.299													2	4	---	---	---	---					
NEK11	79858	broad.mit.edu	37	3	130748712	130748712	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:130748712delG	ENST00000383366.4	+	3	453	c.160delG	c.(160-162)gafs	p.G54fs	NEK11_ENST00000511262.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000510769.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.G54fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.G54fs	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	54	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGCCAAACGAGGAGAGGAATT	0.418													23	21	---	---	---	---					
PACRGL	133015	broad.mit.edu	37	4	20711341	20711341	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:20711341delG	ENST00000360916.5	+	5	702	c.311delG	c.(310-312)tgfs	p.W104fs	PACRGL_ENST00000295290.8_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000507634.1_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000503585.1_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000513459.1_Intron	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	104				W -> R (in Ref. 1; BAC05381).			binding			endometrium(2)|lung(7)|prostate(1)	10						AGATTACAGTGGGAATGTCCT	0.294													15	21	---	---	---	---					
CSN1S1	1446	broad.mit.edu	37	4	70808271	70808271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:70808271delG	ENST00000246891.4	+	14	427	c.378delG	c.(376-378)atfs	p.M126fs	CSN1S1_ENST00000505782.1_Frame_Shift_Del_p.M110fs|CSN1S1_ENST00000444405.3_Frame_Shift_Del_p.M117fs|CSN1S1_ENST00000507772.1_Frame_Shift_Del_p.M118fs|CSN1S1_ENST00000507763.1_Frame_Shift_Del_p.M117fs	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	126						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TTCGCAGAATGAATGAAAACA	0.318													2	4	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150925814	150925814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:150925814delG	ENST00000261800.5	-	9	4886	c.4874delC	c.(4873-4875)cafs	p.P1625fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1625	Cadherin 14.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAGTATGTGGGGCATGATT	0.483													18	13	---	---	---	---					
TNXB	7148	broad.mit.edu	37	6	32049365	32049366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:32049365_32049366insG	ENST00000375244.3	-	10	4022_4023	c.3821_3822insC	c.(3820-3822)cgafs	p.R1274fs	TNXB_ENST00000375247.2_Frame_Shift_Ins_p.R1274fs			P22105	TENX_HUMAN	tenascin XB	1361	Fibronectin type-III 5.				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						GCAAGGAGTCTGGGGTCACGCC	0.619													8	8	---	---	---	---					
EPHB4	2050	broad.mit.edu	37	7	100410581	100410581	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:100410581delC	ENST00000358173.3	-	12	2374	c.1906delG	c.(1906-1908)ccfs	p.A636fs	EPHB4_ENST00000360620.3_Frame_Shift_Del_p.A636fs	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	636	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTCCCTGGGGCCTTGAGCCGC	0.637													49	102	---	---	---	---					
DNAJC2	27000	broad.mit.edu	37	7	102956305	102956305	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:102956305delT	ENST00000379263.3	-	15	1792	c.1542delA	c.(1540-1542)aafs	p.K514fs	DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.K461fs|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	514					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	p.K472K(1)|p.K461K(1)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTATGTCATCTTTTTGATGAG	0.294													13	9	---	---	---	---					
KRBA1	84626	broad.mit.edu	37	7	149431122	149431123	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:149431122_149431123insG	ENST00000255992.10	+	18	3475_3476	c.3076_3077insG	c.(3076-3078)gggfs	p.G1026fs	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Frame_Shift_Ins_p.G966fs|KRBA1_ENST00000485033.2_Frame_Shift_Ins_p.G966fs	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	1027										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGACCCGAGATGGGGGGCGCAT	0.663													6	6	---	---	---	---					
PTPDC1	138639	broad.mit.edu	37	9	96863913	96863922	+	Frame_Shift_Del	DEL	ATGCAGCTTG	ATGCAGCTTG	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:96863913_96863922delATGCAGCTTG	ENST00000375360.3	+	8	2257_2266	c.1917_1926delATGCAGCTTG	c.(1915-1926)ctfs	p.LCSL639fs	PTPDC1_ENST00000467049.1_3'UTR|PTPDC1_ENST00000288976.3_Frame_Shift_Del_p.LCSL691fs	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	639							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTTTCATCCTATGCAGCTTGATGTGGTCTT	0.476													10	131	---	---	---	---					
CAMKK2	10645	broad.mit.edu	37	12	121707362	121707362	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:121707362delA	ENST00000324774.5	-	4	1370	c.542delT	c.(541-543)tgfs	p.L181fs	CAMKK2_ENST00000337174.3_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000347034.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000412367.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000402834.4_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000392473.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000392474.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000538733.1_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000446440.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000404169.3_Frame_Shift_Del_p.L181fs	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	181	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGTAGGCCAACTTGACGAC	0.473													2	4	---	---	---	---					
NAE1	8883	broad.mit.edu	37	16	66839679	66839679	+	Splice_Site	DEL	C	C	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:66839679delC	ENST00000379463.2	-	20	1670		c.e20+1		NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000290810.3_Splice_Site|NAE1_ENST00000394074.2_Splice_Site	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1						apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	ATGGAACTCACCCCCCAAGAA	0.403													7	11	---	---	---	---					
PPFIA3	8541	broad.mit.edu	37	19	49641518	49641518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:49641518delG	ENST00000334186.4	+	16	2259	c.1910delG	c.(1909-1911)cgfs	p.R637fs	PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.R637fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	637						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTGGAGAGTCGGGTGTCCAGC	0.642													13	26	---	---	---	---					
CYSLTR1	10800	broad.mit.edu	37	X	77529023	77529024	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:77529023_77529024delCA	ENST00000373304.3	-	3	512_513	c.220_221delTG	c.(220-222)cfs	p.C74fs		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	74					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AGGCAGTGTGCACACACAAAGT	0.436													24	10	---	---	---	---					
