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
NUP155	9631	broad.mit.edu	37	5	37348642	37348642	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:37348642C>G	ENST00000231498.3	-	9	1163	c.960G>C	c.(958-960)caG>caC	p.Q320H	NUP155_ENST00000513532.1_Missense_Mutation_p.Q320H|NUP155_ENST00000381843.2_Missense_Mutation_p.Q261H	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	320					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAATGGCATTCTGTGACACAG	0.358000													10	124					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220287687	220287687	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:220287687G>T	ENST00000366922.1	+	12	1626	c.1295G>T	c.(1294-1296)gGa>gTa	p.G432V	IARS2_ENST00000302637.5_Missense_Mutation_p.G504V			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	504					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	p.G504V(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TTTATTCCTGGATCAGCACTG	0.373000													36	78					1.42033e-22	2.41229e-22	1	1	0
CXorf40B	541578	broad.mit.edu	37	X	149100786	149100786	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:149100786C>T	ENST00000370406.3	-	5	1281	c.453G>A	c.(451-453)ctG>ctA	p.L151L	CXorf40B_ENST00000462691.1_Intron|CXorf40B_ENST00000370404.1_Silent_p.L151L|CXorf40B_ENST00000355203.2_Silent_p.L151L			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	151										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGGGATCAGGTGCTCTG	0.498000													42	81					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193132429	193132429	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:193132429T>A	ENST00000342695.4	-	26	3275	c.2953A>T	c.(2953-2955)Atg>Ttg	p.M985L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.M966L|ATP13A4_ENST00000400270.2_Start_Codon_SNP_p.M1L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	985					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCAATATGCATGGCCAGGCTG	0.498000													15	35					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135099131	135099131	+	Silent	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:135099131G>C	ENST00000428680.2	-	5	789	c.510C>G	c.(508-510)ctC>ctG	p.L170L	CNOT4_ENST00000315544.5_Silent_p.L170L|CNOT4_ENST00000423368.2_Silent_p.L170L|CNOT4_ENST00000414802.1_Silent_p.L170L|CNOT4_ENST00000361528.4_Silent_p.L170L|CNOT4_ENST00000451834.1_Silent_p.L170L|CNOT4_ENST00000541284.1_Silent_p.L170L|CNOT4_ENST00000356162.4_Silent_p.L170L	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	170	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTATGGCTCTGAGAGCGTCTT	0.368000													9	181					0	0	1	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034931	107034931	+	RNA	SNP	C	C	A	rs113154616	by1000genomes	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:107034931C>A	ENST00000390626.2	-	0	207																											GATCCAGTAGCTGGTAAAGCT	0.572000													4	29					0.00909568	0.00950591	1	1	0
PRKAR1B	5575	broad.mit.edu	37	7	751135	751135	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:751135G>A	ENST00000406797.1	-	2	182	c.8C>T	c.(7-9)tCc>tTc	p.S3F	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.S3F|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.S3F|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.S3F|PRKAR1B_ENST00000488474.1_5'UTR|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.S3F	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	3	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGCGGGCGGGGAGGCCATGGC	0.657000													6	66					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171514751	171514751	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:171514751G>T	ENST00000367742.3	+	17	5139	c.4897G>T	c.(4897-4899)Gac>Tac	p.D1633Y	PRRC2C_ENST00000338920.4_Missense_Mutation_p.D1631Y|PRRC2C_ENST00000426496.2_Missense_Mutation_p.D1631Y|PRRC2C_ENST00000392078.3_Missense_Mutation_p.D1633Y			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1631							protein C-terminus binding										AAAAAGAGAAGACCCCAAACC	0.408000													9	13					0.0477658	0.0488563	1	1	0
FSCN2	25794	broad.mit.edu	37	17	79495633	79495633	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:79495633G>C	ENST00000417245.2	+	1	212	c.76G>C	c.(76-78)Gct>Cct	p.A26P	FSCN2_ENST00000334850.7_Missense_Mutation_p.A26P	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	26					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTACCTGACAGCTGAGAGCTT	0.627000													5	14					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328714	80328714	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:80328714T>A	ENST00000358842.3	-	1	658	c.641A>T	c.(640-642)gAa>gTa	p.E214V		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	214					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TTTATCCCATTCCAAAGAATG	0.393000													10	103					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321919	55321919	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:55321919G>C	ENST00000314644.2	+	1	137	c.137G>C	c.(136-138)gGa>gCa	p.G46A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATCCCTGTTGGAGCTTTCATC	0.383000										HNSCC(20;0.049)			11	125					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65734948	65734948	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:65734948G>T	ENST00000312397.5	+	11	1412	c.1320G>T	c.(1318-1320)cgG>cgT	p.R440R		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	440					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCAGACTGCGGGGACGGGGTC	0.677000													26	60					3.28513e-13	4.90943e-13	1	1	0
GRM7	2917	broad.mit.edu	37	3	7620617	7620617	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:7620617C>T	ENST00000486284.1	+	8	2298	c.2024C>T	c.(2023-2025)aCg>aTg	p.T675M	GRM7_ENST00000403881.1_Missense_Mutation_p.T675M|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.T675M|GRM7_ENST00000357716.4_Missense_Mutation_p.T675M|GRM7_ENST00000402647.2_Missense_Mutation_p.T675M	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	675					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)	GCCCTCTTGACGAAAACAAAT	0.458000													6	74					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847464	95847464	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:95847464G>A	ENST00000398107.2	+	4	1287	c.765G>A	c.(763-765)caG>caA	p.Q255Q	ZNF2_ENST00000453539.2_Silent_p.Q310Q|ZNF2_ENST00000340539.5_Silent_p.Q297Q|ZNF2_ENST00000295210.6_Silent_p.Q259Q|ZNF2_ENST00000425369.1_Silent_p.Q217Q	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CCTTTAGCCAGAAAAGTATTC	0.448000													7	79					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27664485	27664485	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:27664485G>T	ENST00000233557.3	+	18	2331	c.1499G>T	c.(1498-1500)aGt>aTt	p.S500I	NRBP1_ENST00000379863.3_Missense_Mutation_p.S508I|NRBP1_ENST00000379852.3_Missense_Mutation_p.S500I			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	500					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GGCTTCATTAGTGAGGTGAGG	0.572000													19	120					2.35188e-11	3.38429e-11	1	1	0
C19orf57	79173	broad.mit.edu	37	19	14000997	14000997	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:14000997T>A	ENST00000454313.1	-	6	730	c.672A>T	c.(670-672)acA>acT	p.T224T	C19orf57_ENST00000586783.1_Silent_p.T224T|C19orf57_ENST00000346736.2_Silent_p.T224T|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	224					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAACCCTGTCTGTCTCAGGCT	0.617000													5	86					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125140252	125140252	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:125140252G>T	ENST00000362012.2	+	3	174	c.169G>T	c.(169-171)Gac>Tac	p.D57Y	PTGS1_ENST00000223423.4_Missense_Mutation_p.D57Y|PTGS1_ENST00000540753.1_Missense_Mutation_p.D32Y|PTGS1_ENST00000373698.5_5'UTR	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	57	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CTACCAGTGTGACTGCACCCG	0.612000													20	50					2.37509e-13	3.55734e-13	1	1	0
MICU3	286097	broad.mit.edu	37	8	16921683	16921683	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:16921683G>C	ENST00000318063.5	+	2	514	c.472G>C	c.(472-474)Gaa>Caa	p.E158Q		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		TATAGAATGTGAAGGGCAGTT	0.358000													27	52					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772157	4772157	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:4772157C>A	ENST00000378191.4	+	2	608	c.227C>A	c.(226-228)gCc>gAc	p.A76D	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.A76D	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	76					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGGGTCCCGGCCCCGGTGTGG	0.776000													6	14					0.00116845	0.00126781	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176668357	176668357	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:176668357C>A	ENST00000367662.3	+	8	4032	c.2868C>A	c.(2866-2868)ctC>ctA	p.L956L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	956					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGAGCTGCTCTTCCAACACC	0.582000													59	141					3.28156e-27	5.66891e-27	1	1	0
AEBP1	165	broad.mit.edu	37	7	44148723	44148723	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:44148723G>T	ENST00000223357.3	+	8	1341	c.1036G>T	c.(1036-1038)Gac>Tac	p.D346Y	AEBP1_ENST00000454218.1_3'UTR	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	346					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAAAAAGGAGGACAGCAGCCC	0.632000													13	30					3.27435e-08	4.28643e-08	1	1	0
SSPO	23145	broad.mit.edu	37	7	149486408	149486408	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:149486408G>T	ENST00000378016.2	+	0	4384							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)			CTGTGCCGATGGACGCTGCCT	0.677000													5	24					0.00198382	0.00212846	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62302542	62302542	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:62302542C>A	ENST00000378024.4	-	4	549	c.275G>T	c.(274-276)cGc>cTc	p.R92L	AHNAK_ENST00000530124.1_Missense_Mutation_p.R92L|AHNAK_ENST00000257247.7_Missense_Mutation_p.R92L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	92					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTCGGGAGAGCGGTCCCCCTT	0.627000													15	25					7.93312e-07	9.81778e-07	1	1	0
SIN3A	25942	broad.mit.edu	37	15	75673049	75673049	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:75673049C>T	ENST00000394947.3	-	19	3618	c.3304G>A	c.(3304-3306)Gtg>Atg	p.V1102M	SIN3A_ENST00000394949.4_Missense_Mutation_p.V1102M|SIN3A_ENST00000360439.4_Missense_Mutation_p.V1102M	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1102					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TATCGCTCCACGTAGTCTGAC	0.448000													12	40					0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110148666	110148666	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:110148666C>T	ENST00000351050.3	-	6	832	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	216					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		GTGACTCCCTCGAAGCAGTGG	0.502000													6	78					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14625351	14625351	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:14625351G>A	ENST00000218075.4	+	6	1206	c.676G>A	c.(676-678)Gag>Aag	p.E226K	GLRA2_ENST00000355020.4_Missense_Mutation_p.E226K|GLRA2_ENST00000443437.2_Missense_Mutation_p.E137K	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	226					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TTTGAAAGAAGAGAAGGAACT	0.403000													14	42					0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145828166	145828166	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:145828166C>A	ENST00000282903.5	-	4	585	c.408G>T	c.(406-408)gtG>gtT	p.V136V	PLOD2_ENST00000360060.3_Silent_p.V136V|PLOD2_ENST00000494950.1_Silent_p.V81V	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	136					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTGCAAAGACCACTTTGTGGT	0.388000													22	43					6.33239e-15	9.70805e-15	1	1	0
MAST2	23139	broad.mit.edu	37	1	46500362	46500362	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:46500362A>T	ENST00000361297.2	+	29	4304	c.4021A>T	c.(4021-4023)Atc>Ttc	p.I1341F	MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1341					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGCAGGCAGCATCCCACTGTC	0.677000													38	96					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50386136	50386136	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:50386136G>A	ENST00000221543.5	+	8	1213	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R272Q	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	305						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTGAAGAACCGGATCTTCTCG	0.667000													9	57					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64464045	64464045	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:64464045G>T	ENST00000358025.3	+	25	3409	c.3179G>T	c.(3178-3180)aGa>aTa	p.R1060I	SYNE2_ENST00000554584.1_Missense_Mutation_p.R1060I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.R1060I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1060					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTGAGAATAGAGGAGGGGAT	0.388000													11	18					6.40141e-05	7.37443e-05	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38451530	38451530	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:38451530T>C	ENST00000322350.5	+	19	3003	c.2657T>C	c.(2656-2658)tTg>tCg	p.L886S	EGFLAM_ENST00000354891.3_Missense_Mutation_p.L894S|EGFLAM_ENST00000397202.2_Missense_Mutation_p.L252S|EGFLAM_ENST00000514476.1_Missense_Mutation_p.L29S|EGFLAM_ENST00000397210.3_Missense_Mutation_p.L29S|EGFLAM_ENST00000506135.1_Missense_Mutation_p.L29S|EGFLAM_ENST00000336740.6_Missense_Mutation_p.L652S	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	894	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTCATTTCCTTGGGCCTTCGG	0.517000													199	91					0	0	1	0	0
NCAPG	64151	broad.mit.edu	37	4	17841769	17841769	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:17841769G>C	ENST00000251496.2	+	18	2880	c.2704G>C	c.(2704-2706)Ggt>Cgt	p.G902R		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	902					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TAAAGAATTTGGTGACCAAGC	0.338000													14	31					0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35852853	35852853	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:35852853C>T	ENST00000377988.2	+	11	2137	c.849C>T	c.(847-849)atC>atT	p.I283I	TMEM8B_ENST00000377991.4_Silent_p.I283I	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	283					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						AGCCAGGCATCGTGGTTTTCT	0.507000													18	131					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021602	132021602	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:132021602G>T	ENST00000356920.5	+	15	2668	c.2574G>T	c.(2572-2574)ggG>ggT	p.G858G	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	858	Actin-like.						ATP binding										CTGGTGACGGGGTCACCCACA	0.617000													8	147					7.48243e-07	9.29426e-07	1	1	0
NFIX	4784	broad.mit.edu	37	19	13186466	13186466	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:13186466G>T	ENST00000358552.3	+	5	933	c.933G>T	c.(931-933)tgG>tgT	p.W311C	NFIX_ENST00000592199.1_Missense_Mutation_p.W312C|NFIX_ENST00000587760.1_Missense_Mutation_p.W304C|NFIX_ENST00000360105.4_Missense_Mutation_p.W315C|NFIX_ENST00000587260.1_Missense_Mutation_p.W311C|NFIX_ENST00000588228.1_Missense_Mutation_p.W265C|NFIX_ENST00000585575.1_Missense_Mutation_p.W304C|NFIX_ENST00000397661.2_Missense_Mutation_p.W312C			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	312					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCAGCGGGTGGCCCAACGATG	0.602000													11	21					3.86212e-05	4.47473e-05	1	1	0
CCR6	1235	broad.mit.edu	37	6	167550839	167550839	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:167550839T>C	ENST00000341935.5	+	3	1673	c.1121T>C	c.(1120-1122)aTg>aCg	p.M374T	CCR6_ENST00000400926.2_Missense_Mutation_p.M374T|CCR6_ENST00000349984.4_Missense_Mutation_p.M374T	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	374				SSFTM -> VVLHYVIES (in Ref. 4; AAB06949).	cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TCCTTCACTATGTGATAGAAA	0.458000													18	33					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107216292	107216292	+	Silent	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:107216292T>C	ENST00000273980.4	-	4	672	c.225A>G	c.(223-225)gaA>gaG	p.E75E	TBCK_ENST00000432496.2_Silent_p.E75E|TBCK_ENST00000394706.3_Silent_p.E75E|TBCK_ENST00000394708.2_Silent_p.E75E|TBCK_ENST00000361687.4_Silent_p.E75E			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	75	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CCAGACTACGTTCACAATGTT	0.353000													30	68					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59515350	59515350	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:59515350G>A	ENST00000288235.4	-	9	1217	c.818C>T	c.(817-819)aCg>aTg	p.T273M	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	273	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CAACACCAGCGTTTGCTCTTC	0.488000													9	51					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95603414	95603414	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:95603414C>T	ENST00000343958.4	-	2	1869	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H	FGD6_ENST00000546711.1_Missense_Mutation_p.R549H|FGD6_ENST00000549499.1_Missense_Mutation_p.R549H	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	549					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TGACACACCACGGTTTTGGGC	0.418000													27	93					0	0	1	0	0
RNF149	284996	broad.mit.edu	37	2	101911639	101911639	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:101911639T>A	ENST00000295317.3	-	2	572	c.465A>T	c.(463-465)acA>acT	p.T155T		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	155	PA.					integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						CTATATTTCCTGTTCCTGTAG	0.338000													7	40					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130827548	130827548	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:130827548G>T	ENST00000245255.3	+	3	364	c.92G>T	c.(91-93)gGt>gTt	p.G31V		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	31					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CAGCAACCTGGTTATATTCAG	0.478000													13	29					0.00010058	0.000114624	1	1	0
ITIH2	3698	broad.mit.edu	37	10	7771949	7771949	+	Silent	SNP	T	T	A	rs139626054	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:7771949T>A	ENST00000358415.4	+	12	1480	c.1314T>A	c.(1312-1314)gtT>gtA	p.V438V	ITIH2_ENST00000379587.4_Silent_p.V427V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	438	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGAAAAACGTTAAGGAGAACA	0.363000													26	35					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107169465	107169465	+	Splice_Site	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:107169465T>A	ENST00000273980.4	-	10	1168		c.e10-2		TBCK_ENST00000432496.2_Splice_Site|TBCK_ENST00000394706.3_Splice_Site|TBCK_ENST00000394708.2_Splice_Site|TBCK_ENST00000361687.4_Splice_Site			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase							intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGGAAGCTCCTGGTAAATAAA	0.279000													9	26					0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115805197	115805197	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:115805197G>T	ENST00000490035.1	-	2	861	c.362C>A	c.(361-363)aCc>aAc	p.T121N	LSAMP_ENST00000539563.1_Missense_Mutation_p.T118N	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	121	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		AACTTGGGAGGTCTTGGGCTC	0.443000													18	32					0.000132079	0.000150351	1	1	0
ASPM	259266	broad.mit.edu	37	1	197115471	197115471	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:197115471C>A	ENST00000367409.4	-	1	353	c.97G>T	c.(97-99)Gcg>Tcg	p.A33S	ASPM_ENST00000294732.7_Missense_Mutation_p.A33S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	33					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGGGAagacgcctcctcctcg	0.711000													13	81					7.03913e-09	9.40416e-09	1	1	0
NF2	4771	broad.mit.edu	37	22	30067927	30067927	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:30067927A>T	ENST00000338641.4	+	11	1553	c.1112A>T	c.(1111-1113)aAc>aTc	p.N371I	NF2_ENST00000361452.4_Missense_Mutation_p.N330I|NF2_ENST00000361676.4_Missense_Mutation_p.N329I|NF2_ENST00000397789.3_Missense_Mutation_p.N371I|NF2_ENST00000334961.7_Missense_Mutation_p.N288I|NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Missense_Mutation_p.N288I|NF2_ENST00000403999.3_Missense_Mutation_p.N371I|NF2_ENST00000361166.4_Missense_Mutation_p.N371I|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.N342I	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	371	Glu-rich.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ACAATGGCCAACGAAGCACTG	0.552000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				22	49					0	0	1	0	0
CLN5	1203	broad.mit.edu	37	13	77566205	77566205	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:77566205G>T	ENST00000377453.3	+	1	1411	c.119G>T	c.(118-120)aGa>aTa	p.R40I		NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	0					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		CAGGCCTCGAGAGGCTCCGGA	0.746000													5	32					0.0215528	0.022248	1	1	0
RYR2	6262	broad.mit.edu	37	1	237778122	237778122	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:237778122G>T	ENST00000366574.2	+	37	6011	c.5694G>T	c.(5692-5694)ctG>ctT	p.L1898L	RYR2_ENST00000542537.1_Silent_p.L1882L|RYR2_ENST00000360064.6_Silent_p.L1896L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1898	4 X approximate repeats.				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)			AAATGAAACTGCCAGAGCCAG	0.468000													25	33					5.35356e-11	7.61126e-11	1	1	0
LAMA1	284217	broad.mit.edu	37	18	7080339	7080339	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:7080339G>T	ENST00000389658.3	-	2	272	c.179C>A	c.(178-180)cCc>cAc	p.P60H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	60	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTTCGGACGGGCCGACCTGG	0.552000													28	96					9.80776e-20	1.62202e-19	1	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90162653	90162653	+	RNA	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:90162653G>C	ENST00000564451.1	+	0	2006																											ACTGTGTTCTGACAGCCATGT	0.463000													38	156					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31023563	31023563	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr21:31023563T>G	ENST00000399914.1	-	6	1350	c.829A>C	c.(829-831)Atg>Ctg	p.M277L	GRIK1_ENST00000389125.3_Missense_Mutation_p.M277L|GRIK1_ENST00000535441.1_Missense_Mutation_p.M277L|GRIK1_ENST00000309434.7_Missense_Mutation_p.M277L|GRIK1_ENST00000399909.1_Missense_Mutation_p.M277L|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.M277L|GRIK1_ENST00000327783.4_Missense_Mutation_p.M277L|GRIK1_ENST00000399907.1_Missense_Mutation_p.M277L|GRIK1_ENST00000389124.2_Missense_Mutation_p.M277L			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	277					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AACCCGGTCATGTTTACGCCA	0.448000													14	31					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17837988	17837988	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:17837988G>T	ENST00000324096.4	+	5	1946	c.1795G>T	c.(1795-1797)Ggc>Tgc	p.G599C	MAP1S_ENST00000544059.2_Missense_Mutation_p.G573C|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	599	Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGCAGCCTGCGGCTCTCCGGC	0.726000													7	5					1.06961e-07	1.38138e-07	1	1	0
GABRB1	2560	broad.mit.edu	37	4	47408869	47408869	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:47408869C>A	ENST00000295454.3	+	8	1298	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	GABRB1_ENST00000538619.1_Missense_Mutation_p.P266T	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	336					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGGAAAGGCCCTCAGAAAAA	0.388000													10	77					6.40141e-05	7.37443e-05	1	1	0
CCDC142	84865	broad.mit.edu	37	2	74708963	74708963	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:74708963C>G	ENST00000393965.3	-	1	1398	c.1002G>C	c.(1000-1002)ctG>ctC	p.L334L	CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Silent_p.L334L	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	334										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GTGCCTGACTCAGCTGTTGCG	0.612000													4	58					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61985690	61985690	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:61985690T>A	ENST00000409186.1	-	5	4647	c.2542A>T	c.(2542-2544)Agt>Tgt	p.S848C	PCDH20_ENST00000409204.4_Missense_Mutation_p.S848C			Q8N6Y1	PCD20_HUMAN	protocadherin 20	821					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTCTCATTACTGACAGTGTCA	0.413000													9	83					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75174063	75174063	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:75174063T>A	ENST00000336926.6	-	27	2722	c.2696A>T	c.(2695-2697)aAa>aTa	p.K899I	HIP1_ENST00000434438.2_Missense_Mutation_p.K848I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	899	I/LWEQ.|Important for actin binding (By similarity).				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTCCTCAAATTTCCCTCTGCC	0.527000			T	PDGFRB	CMML								7	36					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237936851	237936851	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:237936851C>A	ENST00000366574.2	+	87	11995	c.11678C>A	c.(11677-11679)tCt>tAt	p.S3893Y	RYR2_ENST00000542537.1_Missense_Mutation_p.S3877Y|RYR2_ENST00000360064.6_Missense_Mutation_p.S3899Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3893					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	p.S3891Y(1)		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)			TGGTATTACTCTGGGAAAGAT	0.333000													4	35					0.00909568	0.00950591	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140869579	140869579	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140869579G>C	ENST00000252087.1	+	1	772	c.772G>C	c.(772-774)Ggt>Cgt	p.G258R	PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		258	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACCCATTGGTACTCTGCT	0.517000													33	155					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91497636	91497636	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:91497636C>G	ENST00000416354.1	+	20	3200	c.3128C>G	c.(3127-3129)tCa>tGa	p.S1043*	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Nonsense_Mutation_p.S1013*|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.S973*|KIF20B_ENST00000371728.3_Nonsense_Mutation_p.S1013*			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1013					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGGATCTGTCAAATGGTTCT	0.328000													16	93					0	0	1	0	0
THG1L	54974	broad.mit.edu	37	5	157164911	157164911	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:157164911A>G	ENST00000231198.7	+	5	888	c.644A>G	c.(643-645)gAc>gGc	p.D215G		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	215					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTGCAGCAGACAAGAATGAG	0.383000													8	46					0	0	1	0	0
WDR43	23160	broad.mit.edu	37	2	29135524	29135524	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:29135524C>T	ENST00000407426.3	+	4	610	c.554C>T	c.(553-555)tCa>tTa	p.S185L		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	185						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ATGTTGCTTTCAGCTGGTCGA	0.378000													5	73					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320107	79320107	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:79320107G>T	ENST00000428286.1	-	8	7206	c.6006C>A	c.(6004-6006)atC>atA	p.I2002I	PRUNE2_ENST00000376718.3_Silent_p.I2361I			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2361					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AATCTTCATCGATATTCTGGC	0.493000													51	93					9.87224e-16	1.5345e-15	1	1	0
URB2	9816	broad.mit.edu	37	1	229794874	229794874	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:229794874C>G	ENST00000258243.2	+	10	4541	c.4405C>G	c.(4405-4407)Ctg>Gtg	p.L1469V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1469						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGTGAAAAGTCTGCTGCAGGA	0.542000													10	181					0	0	1	0	0
RCN3	57333	broad.mit.edu	37	19	50031870	50031870	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:50031870C>A	ENST00000270645.3	+	2	588	c.141C>A	c.(139-141)gaC>gaA	p.D47E	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	47						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		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;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CCCATGATGACGCCCACGGGA	0.667000													10	135					2.17888e-05	2.56129e-05	1	1	0
CACNA1H	8912	broad.mit.edu	37	16	1254177	1254177	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:1254177G>C	ENST00000348261.5	+	10	2418	c.2170G>C	c.(2170-2172)Ggc>Cgc	p.G724R	CACNA1H_ENST00000358590.4_Missense_Mutation_p.G724R|CACNA1H_ENST00000565831.1_Missense_Mutation_p.G724R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	724					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGACTCAGATGGCCGTGGCGT	0.677000													4	33					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61582864	61582864	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:61582864C>A	ENST00000238508.3	+	2	179	c.120C>A	c.(118-120)acC>acA	p.T40T		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CTTCCTTGACCATAGTGTATT	0.448000													13	38					2.27111e-07	2.87417e-07	1	1	0
SLC6A12	6539	broad.mit.edu	37	12	310985	310985	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:310985C>A	ENST00000428720.1	-	6	1264	c.521G>T	c.(520-522)gGa>gTa	p.G174V	SLC6A12_ENST00000536824.1_Missense_Mutation_p.G174V|SLC6A12_ENST00000359674.4_Missense_Mutation_p.G174V|SLC6A12_ENST00000538272.1_Intron|SLC6A12_ENST00000424061.2_Missense_Mutation_p.G174V|SLC6A12_ENST00000397296.2_Missense_Mutation_p.G174V	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	174					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TGTGCCGGCTCCTGAGTGGTT	0.517000													35	42					2.68265e-12	3.94615e-12	1	1	0
FOCAD	54914	broad.mit.edu	37	9	20948277	20948277	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:20948277G>A	ENST00000380249.1	+	33	4047	c.3683G>A	c.(3682-3684)gGt>gAt	p.G1228D	FOCAD_ENST00000605086.1_Missense_Mutation_p.G664D|FOCAD_ENST00000338382.6_Missense_Mutation_p.G1228D	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1228						integral to membrane	binding										CAGACTTCAGGTTTTGCCCTG	0.358000													14	22					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373037	27373037	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:27373037G>T	ENST00000296096.5	+	2	399	c.269G>T	c.(268-270)aGg>aTg	p.R90M		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	90	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCGGGTCAGGACGCTGCGC	0.682000													18	78					5.3912e-06	6.5199e-06	1	1	0
EPHB6	2051	broad.mit.edu	37	7	142561077	142561077	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:142561077C>T	ENST00000392957.2	+	5	879	c.92C>T	c.(91-93)gCt>gTt	p.A31V	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.A31V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	31						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCAGTTCTGGCTCTGGAAGGT	0.542000													11	49					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10988344	10988344	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:10988344T>A	ENST00000304623.8	-	20	3411	c.3222A>T	c.(3220-3222)ccA>ccT	p.P1074P	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.P1016P|CTNND2_ENST00000503622.1_Silent_p.P737P|CTNND2_ENST00000458100.2_Silent_p.P641P|CTNND2_ENST00000511377.1_Silent_p.P983P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1074					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GAGGTGAAGCTGGGGCACTTG	0.512000											OREG0016517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	94					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45805712	45805712	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:45805712G>T	ENST00000262891.4	+	17	2334	c.2003G>T	c.(2002-2004)cGc>cTc	p.R668L	MARK4_ENST00000300843.4_3'UTR	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	668					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACCAGCTCGCGCCCTCCTGAG	0.677000													62	118					2.69953e-25	4.63566e-25	1	1	0
CYBB	1536	broad.mit.edu	37	X	37642838	37642838	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:37642838C>T	ENST00000378588.4	+	3	304	c.237C>T	c.(235-237)ctC>ctT	p.L79L	CYBB_ENST00000545017.1_Silent_p.L47L|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_5'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	79	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TGTCCTTCCTCAGGGGTTCCA	0.458000													4	12					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072740	34072740	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:34072740C>A	ENST00000254466.6	-	6	1803	c.1776G>T	c.(1774-1776)ttG>ttT	p.L592F	GAS2L2_ENST00000587565.1_Missense_Mutation_p.L576F	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	592					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGTTCCCGCCCAAGGGCAGAG	0.592000													40	98					6.2361e-21	1.04418e-20	1	1	0
OR5D13	390142	broad.mit.edu	37	11	55541188	55541188	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:55541188G>A	ENST00000361760.1	+	1	275	c.275G>A	c.(274-276)aGa>aAa	p.R92K		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GTGGAATACAGAACCATCTCT	0.393000													38	144					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35068309	35068309	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:35068309G>A	ENST00000358901.6	-	2	963	c.68C>T	c.(67-69)cCc>cTc	p.P23L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	23					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TAACCGATTGGGACGGTTCTT	0.483000													43	223					0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204591407	204591407	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:204591407C>T	ENST00000374481.3	+	2	326	c.104C>T	c.(103-105)gCg>gTg	p.A35V	CD28_ENST00000374478.4_Intron|CD28_ENST00000324106.7_Missense_Mutation_p.A35V|CD28_ENST00000458610.2_Missense_Mutation_p.A49V			P10747	CD28_HUMAN	CD28 molecule	35	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TACGACAATGCGGTCAACCTT	0.433000													6	64					0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74546607	74546607	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:74546607C>T	ENST00000299563.4	+	6	972	c.959C>T	c.(958-960)cCa>cTa	p.P320L		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	320							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACTATGACTCCAGCCTCCAAC	0.453000													7	72					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129991662	129991662	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:129991662G>C	ENST00000263574.5	+	5	742	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	APLP2_ENST00000278756.7_Missense_Mutation_p.E234Q|APLP2_ENST00000528499.1_Missense_Mutation_p.E224Q|APLP2_ENST00000543137.1_Missense_Mutation_p.E131Q|APLP2_ENST00000338167.5_Missense_Mutation_p.E224Q|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000539648.1_Missense_Mutation_p.E68Q	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	224	Asp/Glu-rich (highly acidic).|Poly-Glu.			E -> D (in Ref. 5; AAD47291).	G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		tgaagaggaagaggaagagga	0.413000													6	126					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25850334	25850334	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:25850334A>T	ENST00000397060.4	-	9	1174	c.1065T>A	c.(1063-1065)gaT>gaA	p.D355E	SLC17A3_ENST00000361703.6_Missense_Mutation_p.D277E|SLC17A3_ENST00000360657.3_Missense_Mutation_p.D277E	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	277					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTAGAAGGAAATCTGCCAGAT	0.403000													20	52					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804948	22804948	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:22804948T>G	ENST00000361524.3	-	4	3082	c.2934A>C	c.(2932-2934)aaA>aaC	p.K978N	ZNF521_ENST00000584787.1_Missense_Mutation_p.K758N|ZNF521_ENST00000538137.2_Missense_Mutation_p.K978N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	978					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TATGCGTGACTTTGTGTTCAG	0.483000			T	PAX5	ALL								10	89					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17553052	17553052	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:17553052G>T	ENST00000005226.7	-	3	141	c.142C>A	c.(142-144)Ctg>Atg	p.L48M	USH1C_ENST00000318024.4_Missense_Mutation_p.L48M|USH1C_ENST00000527720.1_Missense_Mutation_p.L17M|USH1C_ENST00000527020.1_Missense_Mutation_p.L48M	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	48					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTGATGACCAGCTTCAGGTCT	0.617000													12	25					0.00136819	0.00148056	1	1	0
ZNF347	84671	broad.mit.edu	37	19	53644971	53644971	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:53644971C>T	ENST00000452676.2	-	5	1539	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	ZNF347_ENST00000334197.7_Silent_p.E370E|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.E371E	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTAAGGTTTCTCTCCAGTAT	0.408000													7	160					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142750	3142750	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:3142750G>T	ENST00000252463.2	-	1	111	c.24C>A	c.(22-24)agC>agA	p.S8R	ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000572548.1_Missense_Mutation_p.S8R|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P16T	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	8	SCAN box.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCCGGAGCCGGCTCAGGGACG	0.657000													5	8					0.00116845	0.00126781	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108600106	108600106	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:108600106G>A	ENST00000332082.4	+	4	1241	c.423G>A	c.(421-423)cgG>cgA	p.R141R	WSCD2_ENST00000261400.3_Silent_p.R141R|WSCD2_ENST00000547525.1_Silent_p.R141R|WSCD2_ENST00000549903.1_Silent_p.R141R			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	141	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CCCAGAGTCGGGCCCTTCGAG	0.532000													12	44					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916260	131916260	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:131916260C>G	ENST00000286355.5	-	7	3761	c.1669G>C	c.(1669-1671)Gac>Cac	p.D557H	ADCY8_ENST00000377928.3_Missense_Mutation_p.D557H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	557					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)			TTGAGACAGTCCAGCGTGGCT	0.433000										HNSCC(32;0.087)			25	159					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937002	33937002	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:33937002G>T	ENST00000330120.3	+	1	512	c.157G>T	c.(157-159)Ggg>Tgg	p.G53W		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	53						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GTGGGAGCTGGGGCTGGAGTT	0.677000													7	167					1.6384e-10	2.30175e-10	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140985304	140985304	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:140985304G>A	ENST00000544766.1	+	5	1393	c.866G>A	c.(865-867)gGg>gAg	p.G289E	MAGEC3_ENST00000443323.2_Missense_Mutation_p.G209E|MAGEC3_ENST00000409007.1_Missense_Mutation_p.G289E|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.G289E	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TTTATATATGGGGATCCCAGA	0.507000													15	56					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053769	238053769	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:238053769A>G	ENST00000366570.4	-	1	325	c.167T>C	c.(166-168)aTa>aCa	p.I56T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	56					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACCCCAAGCTATTAGTACAGG	0.483000													14	56					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830136	7830136	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:7830136G>A	ENST00000327325.5	+	3	314	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	CLEC4M_ENST00000334806.5_Missense_Mutation_p.V38M|CLEC4M_ENST00000394122.2_Splice_Site|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000597522.1_Missense_Mutation_p.V66M|CLEC4M_ENST00000248228.4_Missense_Mutation_p.V66M|CLEC4M_ENST00000596363.1_Missense_Mutation_p.V38M|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000357361.2_Missense_Mutation_p.V66M	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	66					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGGGGTCCTGGTGGCCATCCT	0.617000													6	87					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46744803	46744803	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:46744803G>T	ENST00000311907.5	+	5	446	c.390G>T	c.(388-390)caG>caT	p.Q130H	F2_ENST00000530231.1_Missense_Mutation_p.Q130H	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	130	Kringle 1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TTGAGTGCCAGCTATGGAGGA	0.607000													43	96					1.7489e-18	2.83196e-18	1	1	0
LRIT2	340745	broad.mit.edu	37	10	85984319	85984319	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:85984319G>T	ENST00000372113.4	-	2	667	c.662C>A	c.(661-663)cCa>cAa	p.P221Q	LRIT2_ENST00000538192.1_Missense_Mutation_p.P221Q	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	221	LRRCT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CAGGATGACTGGGAGGGTAAT	0.537000													24	57					1.96895e-08	2.60118e-08	1	1	0
TMEM200B	399474	broad.mit.edu	37	1	29447848	29447848	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:29447848A>T	ENST00000420504.2	-	2	650	c.493T>A	c.(493-495)Tgg>Agg	p.W165R	TMEM200B_ENST00000521452.1_Missense_Mutation_p.W165R	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	165	Pro-rich.					integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		GCGCAGTCCCAGCCCGGGCCG	0.721000													3	5					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585033	43585033	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:43585033G>T	ENST00000406487.1	-	2	528	c.430_splice	c.e2+1	p.L144_splice		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	144	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AATCACTTACGGTATAAGGTG	0.507000													33	243					7.88023e-25	1.34975e-24	1	1	0
CFAP54	144535	broad.mit.edu	37	12	97078807	97078807	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:97078807G>T	ENST00000524981.3	+	9	1158	c.1157_splice	c.e9-1	p.R386_splice				Q6ZTY8	CL063_HUMAN		360										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TCTGTTTTAGGGCTGCTTTTA	0.413000													5	20					0.014758	0.0152889	1	1	0
TTN	7273	broad.mit.edu	37	2	179586701	179586701	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:179586701G>A	ENST00000589042.1	-	78	22913	c.22689C>T	c.(22687-22689)atC>atT	p.I7563I	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I6319I|TTN_ENST00000591111.1_Silent_p.I7246I|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7246	Ig-like 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)			CCACACATGTGATTGTATAGT	0.418000													11	193					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120343	47120343	+	Nonsense_Mutation	SNP	G	G	C	rs151091923		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:47120343G>C	ENST00000298283.3	-	1	685	c.597C>G	c.(595-597)taC>taG	p.Y199*		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	199					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GACTGGGAACGTACTTGACTC	0.502000													23	65					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38754656	38754656	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:38754656G>T	ENST00000359357.3	+	16	2114	c.1860G>T	c.(1858-1860)ttG>ttT	p.L620F	DNAH8_ENST00000449981.2_Missense_Mutation_p.L837F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L620F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAATGAAGTTGGATGTACCAG	0.338000													6	64					8.12818e-05	9.27883e-05	1	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73022793	73022793	+	Missense_Mutation	SNP	C	C	G	rs111843143		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:73022793C>G	ENST00000263674.3	+	1	3460	c.3110C>G	c.(3109-3111)tCt>tGt	p.S1037C		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1037	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCACCGCCCTCTGCTGAGGCC	0.642000													4	51					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539556	56539556	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:56539556C>G	ENST00000390649.3	+	7	1957	c.1957C>G	c.(1957-1959)Ctg>Gtg	p.L653V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	653						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAGGTCCTGCTGGGCTGTCC	0.582000													6	72					0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47127176	47127176	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:47127176C>T	ENST00000291294.2	-	2	440	c.307G>A	c.(307-309)Ggc>Agc	p.G103S	PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.G103S|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000597185.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	103					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GACGCCAGGCCGAAGAAGGTC	0.706000													3	16					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207296	58207296	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:58207296C>G	ENST00000377918.3	+	1	642	c.616C>G	c.(616-618)Cag>Gag	p.Q206E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	206	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGCGAGCAACAGAATCACCA	0.597000													7	36					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66085628	66085628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:66085628G>T	ENST00000349533.6	+	17	2598	c.2413G>T	c.(2413-2415)Gag>Tag	p.E805*	LEPR_ENST00000344610.8_Nonsense_Mutation_p.E805*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Nonsense_Mutation_p.E805*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.E805*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	805	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCCCATTGAGAAGTACCA	0.279000													5	52					0.000602214	0.000664149	1	1	0
TMEM260	54916	broad.mit.edu	37	14	57114063	57114063	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:57114063G>T	ENST00000261556.6	+	16	2094	c.1972G>T	c.(1972-1974)Gca>Tca	p.A658S	TMEM260_ENST00000536419.1_Missense_Mutation_p.A192S|RP11-1085N6.2_ENST00000555924.1_RNA|RP11-1085N6.2_ENST00000553800.1_RNA	NM_017799.3	NP_060269.3			transmembrane protein 260																		GGCAAGAGATGCAGATCCTGA	0.463000													14	58					9.31168e-06	1.1174e-05	1	1	0
U2SURP	23350	broad.mit.edu	37	3	142746000	142746000	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:142746000C>T	ENST00000397933.2	+	13	1339	c.57C>T	c.(55-57)ctC>ctT	p.L19L	U2SURP_ENST00000493598.2_Silent_p.L427L|U2SURP_ENST00000473835.2_Silent_p.L428L			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	428					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GGAATTTGCTCGCCCTGATAC	0.363000													4	46					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31822943	31822943	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:31822943C>A	ENST00000382902.1	-	4	711	c.619G>T	c.(619-621)Gat>Tat	p.D207Y	OTUD7A_ENST00000307050.4_Missense_Mutation_p.D207Y			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	207	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CAGTTCCCATCCCCTGTTGTG	0.537000													16	49					1.15088e-07	1.47781e-07	1	1	0
DMD	1756	broad.mit.edu	37	X	32841472	32841472	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:32841472G>A	ENST00000357033.4	-	5	503	c.297C>T	c.(295-297)atC>atT	p.I99I	DMD_ENST00000288447.4_Silent_p.I91I|DMD_ENST00000378677.2_Silent_p.I95I	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	99	Actin-binding.|CH 1.				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)				TTCCATCTACGATGTCAGTAC	0.343000													9	40					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470501	10470501	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:10470501C>G	ENST00000382483.3	-	4	1330	c.1107G>C	c.(1105-1107)tgG>tgC	p.W369C		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	369					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGTAGCCCTCCCACACACAGC	0.701000													24	42					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210948691	210948691	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:210948691C>A	ENST00000367007.4	-	10	2199	c.2031_splice	c.e10+1	p.R677_splice	KCNH1_ENST00000271751.4_Splice_Site_p.R704_splice	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	704	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTAGCTCACCCTCTTCCTCAA	0.443000													12	28					2.27111e-07	2.87417e-07	1	1	0
LTN1	26046	broad.mit.edu	37	21	30357072	30357072	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr21:30357072C>T	ENST00000361371.4	-	4	667	c.517G>A	c.(517-519)Gct>Act	p.A173T	LTN1_ENST00000389194.2_Missense_Mutation_p.A219T|LTN1_ENST00000389195.2_Missense_Mutation_p.A219T	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	173							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGAGGAAAAGCCGCTTCAAAT	0.378000													37	40					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33585968	33585968	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:33585968G>T	ENST00000299977.4	+	2	407	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	SLFN5_ENST00000592325.1_Missense_Mutation_p.D87Y|SLFN5_ENST00000542451.1_Missense_Mutation_p.D87Y	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	87					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AAGCCATTTAGATAAGATGCA	0.423000													40	128					8.16277e-20	1.3533e-19	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13917252	13917252	+	Splice_Site	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:13917252G>A	ENST00000265104.4	-	8	1193	c.1089_splice	c.e8+1	p.P363_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	363	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTAACTCACGGGATCACTGC	0.343000									Kartagener syndrome				13	66					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752174	247752174	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:247752174C>T	ENST00000320065.1	+	1	513	c.513C>T	c.(511-513)ttC>ttT	p.F171F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGCTGCCCTTCTGTGGGCATC	0.547000													14	185					0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23586926	23586926	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:23586926C>G	ENST00000206513.5	-	2	1140	c.616G>C	c.(616-618)Gag>Cag	p.E206Q		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	206						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGCCGGTACTCAAGGCTATCT	0.627000													7	91					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124358910	124358910	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:124358910G>C	ENST00000287394.5	-	17	2400	c.2293C>G	c.(2293-2295)Cag>Gag	p.Q765E	ATAD2_ENST00000521903.1_Missense_Mutation_p.Q83E	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	765					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GAAGATTTCTGAGAAAGTCCA	0.289000													8	97					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34077163	34077163	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:34077163G>T	ENST00000254466.6	-	2	587	c.560C>A	c.(559-561)cCg>cAg	p.P187Q	GAS2L2_ENST00000587565.1_Intron	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	187					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGTCGGGCGGGGGCAGGGC	0.751000													10	80					0.00829132	0.00872406	1	1	0
OR4A5	81318	broad.mit.edu	37	11	51412281	51412281	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:51412281C>T	ENST00000319760.6	-	1	167	c.115G>A	c.(115-117)Ggg>Agg	p.G39R		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGCAGGTTCCCCACCACTGTC	0.433000													17	35					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149517829	149517829	+	RNA	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:149517829A>T	ENST00000378016.2	+	0	12266							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)			ATTGTGTGTCAGGACGACCAG	0.647000													3	14					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124996588	124996588	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:124996588G>A	ENST00000360647.4	-	7	1134	c.649C>T	c.(649-651)Cat>Tat	p.H217Y	ZNF148_ENST00000484491.1_Missense_Mutation_p.H217Y|ZNF148_ENST00000468369.1_Missense_Mutation_p.H25Y|ZNF148_ENST00000544464.1_Missense_Mutation_p.H12Y|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.H217Y|ZNF148_ENST00000492394.1_Missense_Mutation_p.H217Y|SLC12A8_ENST00000423114.2_Silent_p.D40D	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	217					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATCTTCTCATGTCTCTGAAGC	0.343000													9	47					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957440	73957440	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:73957440G>A	ENST00000358602.4	-	29	6021	c.5905C>T	c.(5905-5907)Cca>Tca	p.P1969S	ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1718S|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1856S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1969	Ser-rich.|Thr-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTAGTTGTTGGGCTTGAAGTT	0.478000													71	117					0	0	1	0	0
CMPK2	129607	broad.mit.edu	37	2	6991688	6991688	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:6991688C>A	ENST00000256722.5	-	4	1118	c.1119G>T	c.(1117-1119)ctG>ctT	p.L373L	CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000404168.1_Silent_p.L373L|CMPK2_ENST00000458098.1_Intron	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	373					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTGAGCAGCAGGATAAGGT	0.597000													19	51					3.51602e-12	5.15887e-12	1	1	0
CYP3A5	1577	broad.mit.edu	37	7	99258208	99258208	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:99258208G>T	ENST00000343703.5	-	11	1296	c.910C>A	c.(910-912)Ctt>Att	p.L304I	CYP3A5_ENST00000222982.4_Missense_Mutation_p.L314I|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					GTGAAGGAAAGAACACTGCTG	0.458000													6	70					3.59834e-05	4.18836e-05	1	1	0
UGT1A1	54658	broad.mit.edu	37	2	234678201	234678201	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:234678201G>C	ENST00000360418.3	+	5	1329	c.1329G>C	c.(1327-1329)caG>caC	p.Q443H	UGT1A4_ENST00000373409.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000305208.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.Q440H|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Missense_Mutation_p.Q175H|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron			P22309	UD11_HUMAN		0			L -> P (in CN2; has no residual bilirubin glucuronidation activity).		bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CAGGAAGACAGATGTGAAGAG	0.502000													10	24					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496659	20496659	+	RNA	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:20496659C>G	ENST00000555186.1	+	0	712					NR_038836.1																						CCACAAAGCGCCCGGCTGTGT	0.438000													4	35					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31496435	31496435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:31496435C>A	ENST00000357033.4	-	59	8931	c.8725G>T	c.(8725-8727)Gag>Tag	p.E2909*	DMD_ENST00000474231.1_Nonsense_Mutation_p.E449*|DMD_ENST00000378707.3_Nonsense_Mutation_p.E449*|DMD_ENST00000541735.1_Nonsense_Mutation_p.E449*|DMD_ENST00000445312.1_Intron|DMD_ENST00000378677.2_Nonsense_Mutation_p.E2905*|DMD_ENST00000359836.1_Nonsense_Mutation_p.E449*|DMD_ENST00000343523.2_Nonsense_Mutation_p.E449*	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	2909					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)				TTGACCTCCTCAGCCTGCTTT	0.473000													5	37					0.184627	0.186104	1	1	0
DSP	1832	broad.mit.edu	37	6	7574355	7574355	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:7574355C>T	ENST00000379802.3	+	16	2508	c.2167C>T	c.(2167-2169)Ctc>Ttc	p.L723F	DSP_ENST00000418664.2_Missense_Mutation_p.L723F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	723	Globular 1.				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)		TGCTGAGGTTCTCAACCAGCT	0.328000													6	85					0	0	1	0	0
MIR181A1	406995	broad.mit.edu	37	1	198828240	198828240	+	RNA	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:198828240C>G	ENST00000385026.1	-	0	42					NR_029626.1																						ATTCCAAACTCACCGACAGCG	0.423000													12	128					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66887654	66887654	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:66887654G>A	ENST00000269080.2	-	22	3137	c.3000C>T	c.(2998-3000)gcC>gcT	p.A1000A	ABCA8_ENST00000430352.2_Silent_p.A1040A|ABCA8_ENST00000586539.1_Silent_p.A1040A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1000						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGCTGCTCATGGCAATGTAAG	0.358000													5	45					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135276915	135276915	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:135276915C>A	ENST00000334270.2	-	2	1333	c.1294G>T	c.(1294-1296)Ggt>Tgt	p.G432C		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	432					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GATTTCACACCTTCTTCCATC	0.512000													18	73					9.16793e-09	1.22239e-08	1	1	0
SMTN	6525	broad.mit.edu	37	22	31487245	31487245	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:31487245G>A	ENST00000333137.7	+	10	1454	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	SMTN_ENST00000347557.2_Silent_p.Q412Q|SMTN_ENST00000358743.1_Silent_p.Q412Q	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	412					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCTGCCCCCAGGAGGAGGGCC	0.701000													3	23					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151873492	151873492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:151873492G>A	ENST00000355193.2	-	38	9264	c.9046C>T	c.(9046-9048)Caa>Taa	p.Q3016*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q3016*					lysine (K)-specific methyltransferase 2C																		TGACTTGTTTGAGGCCCAGTT	0.483000													10	75					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145101532	145101532	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:145101532C>T	ENST00000377470.3	+	5	1553	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	SPATC1_ENST00000447830.2_Silent_p.F437F	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	484										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACAGGCTTCCCTGAACCCC	0.607000													6	44					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135741290	135741290	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:135741290G>T	ENST00000375845.3	-	8	3208	c.3178C>A	c.(3178-3180)Cta>Ata	p.L1060I	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.L242I|MAP3K19_ENST00000358371.4_Missense_Mutation_p.L947I|MAP3K19_ENST00000375844.3_Missense_Mutation_p.L242I|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.L1077I	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TTGGTCCATAGGATAGGTTCT	0.438000													10	64					0.000673444	0.000740274	1	1	0
SNX19	399979	broad.mit.edu	37	11	130773248	130773248	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:130773248C>A	ENST00000265909.4	-	8	3044	c.2475G>T	c.(2473-2475)ctG>ctT	p.L825L	SNX19_ENST00000528555.1_Silent_p.L205L|SNX19_ENST00000534726.1_Silent_p.L65L|SNX19_ENST00000539184.1_Silent_p.L268L|SNX19_ENST00000545537.1_Silent_p.L65L|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000530356.1_Silent_p.L205L	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	825					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGAGCAGATCCAGGGCTGTGT	0.443000													6	40					0.00116845	0.00126781	1	1	0
GLDC	2731	broad.mit.edu	37	9	6605203	6605203	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:6605203C>G	ENST00000321612.6	-	6	939	c.789G>C	c.(787-789)ttG>ttC	p.L263F		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	263					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGTACTGGAACAACACTCCAC	0.493000													18	24					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68979560	68979560	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:68979560G>T	ENST00000433211.1	-	6	822	c.648C>A	c.(646-648)ccC>ccA	p.P216P	CTNNA3_ENST00000545309.1_Silent_p.P216P|CTNNA3_ENST00000373744.4_Silent_p.P216P	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	216					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AATGCAAGAGGGGAGAGTTCT	0.413000													11	93					2.27111e-07	2.87417e-07	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43322794	43322794	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:43322794G>C	ENST00000361428.2	-	4	2355	c.2278C>G	c.(2278-2280)Cag>Gag	p.Q760E	ZNF318_ENST00000318149.3_Missense_Mutation_p.Q760E	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	760					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATGTGAAACTGAGATAAAGCA	0.532000													25	82					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103814309	103814309	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:103814309C>T	ENST00000302251.5	-	5	1076	c.625G>A	c.(625-627)Gca>Aca	p.A209T	PDGFD_ENST00000393158.2_Missense_Mutation_p.A215T	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	215					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TCAAATTCTGCAATTTTTTTG	0.448000													10	23					0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71396794	71396794	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:71396794C>A	ENST00000339336.4	+	8	526	c.396C>A	c.(394-396)ttC>ttA	p.F132L	AMTN_ENST00000504451.1_Missense_Mutation_p.F131L	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	132					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			ATTCCTTGTTCCCGGGAGGCA	0.498000													12	24					4.3838e-07	5.49269e-07	1	1	0
RBP3	5949	broad.mit.edu	37	10	48388043	48388043	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:48388043C>T	ENST00000224600.4	-	1	2948	c.2835G>A	c.(2833-2835)ggG>ggA	p.G945G		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	945	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCACCAGCTTCCCGGCCGTCT	0.622000													10	72					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55052419	55052419	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:55052419G>T	ENST00000330807.5	-	2	152	c.15C>A	c.(13-15)gcC>gcA	p.A5A	ALAS2_ENST00000335854.4_Silent_p.A5A|ALAS2_ENST00000396198.3_Silent_p.A29A	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	5					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GTAGCAGCATGGCTGCAGTCA	0.542000													6	10					3.59834e-05	4.18836e-05	1	1	0
TFDP2	7029	broad.mit.edu	37	3	141697400	141697400	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:141697400C>A	ENST00000499676.2	-	7	969	c.298G>T	c.(298-300)Gag>Tag	p.E100*	TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000477292.1_Nonsense_Mutation_p.E25*|TFDP2_ENST00000397991.4_Nonsense_Mutation_p.E133*|TFDP2_ENST00000317104.7_Nonsense_Mutation_p.E84*|TFDP2_ENST00000467072.1_Nonsense_Mutation_p.E100*|TFDP2_ENST00000486111.1_Nonsense_Mutation_p.E100*|TFDP2_ENST00000495310.1_Nonsense_Mutation_p.E64*|TFDP2_ENST00000310282.6_Nonsense_Mutation_p.E100*|TFDP2_ENST00000489671.1_Nonsense_Mutation_p.E161*|TFDP2_ENST00000479040.1_Nonsense_Mutation_p.E100*	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	161					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						TTGGTGAACTCTGACACCAGC	0.383000													29	57					9.65021e-13	1.42945e-12	1	1	0
KLRF1	51348	broad.mit.edu	37	12	9995033	9995033	+	Splice_Site	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:9995033G>A	ENST00000279544.3	+	5	654		c.e5+1		KLRF1_ENST00000324214.4_Splice_Site|KLRF1_ENST00000537723.1_Intron|KLRF1_ENST00000354855.3_Intron	NM_016523.1	NP_057607.1	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1						cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						ATTCAAAGATGTGAGTCTTTC	0.358000													13	57					0	0	1	0	0
HAUS3	79441	broad.mit.edu	37	4	2242561	2242561	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:2242561G>A	ENST00000243706.4	-	2	342	c.113C>T	c.(112-114)tCg>tTg	p.S38L	POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.S38L|HAUS3_ENST00000443786.2_Missense_Mutation_p.S38L|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	38					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTTCAGAAACGATTCATCTTC	0.368000													13	88					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54791227	54791227	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:54791227A>T	ENST00000306858.7	+	3	619	c.503A>T	c.(502-504)gAg>gTg	p.E168V		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	168										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAATCGTTGAGGCATCAACT	0.323000													15	89					0	0	1	0	0
AQP1	358	broad.mit.edu	37	7	30951862	30951862	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:30951862C>G	ENST00000311813.4	+	1	393	c.338C>G	c.(337-339)tCa>tGa	p.S113*	AQP1_ENST00000509504.1_Nonsense_Mutation_p.S290*|AQP1_ENST00000434909.2_Nonsense_Mutation_p.S173*	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				GCCATCCTCTCAGGCATCACC	0.617000													10	159					0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170592214	170592214	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:170592214A>G	ENST00000392647.2	+	2	934	c.690A>G	c.(688-690)atA>atG	p.I230M	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.I230M	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	230	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						ACATTGATATAGATCCAGTGT	0.393000													22	81					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151491572	151491572	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:151491572G>T	ENST00000271636.7	+	2	710	c.577G>T	c.(577-579)Gcc>Tcc	p.A193S		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	187	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGAGGCCAGGCCCGGGGTCG	0.607000													13	261					1.5842e-08	2.10253e-08	1	1	0
CENPF	1063	broad.mit.edu	37	1	214811235	214811235	+	Silent	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:214811235T>C	ENST00000366955.3	+	11	1641	c.1473T>C	c.(1471-1473)ctT>ctC	p.L491L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	491					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACAACCTCCTTAAGAGTCACT	0.393000													5	64					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785155	82785155	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:82785155C>A	ENST00000423517.2	-	2	1139	c.802G>T	c.(802-804)Gac>Tac	p.D268Y	PCLO_ENST00000333891.8_Missense_Mutation_p.D268Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	268	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGCATGGTCTGTCTGAGGA	0.463000													5	54					0.014758	0.0152889	1	1	0
ADAR	103	broad.mit.edu	37	1	154558266	154558266	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:154558266T>A	ENST00000368474.4	-	13	3477	c.3278A>T	c.(3277-3279)gAt>gTt	p.D1093V	ADAR_ENST00000368471.3_Missense_Mutation_p.D798V|ADAR_ENST00000292205.5_Missense_Mutation_p.D1136V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1093	A to I editase.			D -> G (in Ref. 5; CAE45853).	adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCGTAGTCCATCCTCAAATGC	0.443000													8	39					0	0	1	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176554	142176554	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:142176554C>A	ENST00000390369.2	-	0	121																											TGAATCACACCTGAGAGCTAC	0.507000													11	63					3.86212e-05	4.47473e-05	1	1	0
LOC647264	647264	broad.mit.edu	37	13	64321142	64321142	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:64321142G>T	ENST00000453638.2	+	1	209	c.209G>T	c.(208-210)tGt>tTt	p.C70F																	endometrium(2)|lung(1)|urinary_tract(1)	4						ggctacagctgtggctatggc	0.572000													23	32					0.00229938	0.00246571	1	1	0
OR13F1	138805	broad.mit.edu	37	9	107266817	107266817	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:107266817A>G	ENST00000334726.2	+	1	363	c.274A>G	c.(274-276)Att>Gtt	p.I92V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAGAAACACTATTTCATTCTC	0.512000													28	51					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117002738	117002738	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:117002738C>T	ENST00000356083.3	+	21	3197	c.2806C>T	c.(2806-2808)Ccg>Tcg	p.P936S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	936	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCGAGGCCTGCCGGGACCCCG	0.672000													39	72					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89846021	89846021	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:89846021C>T	ENST00000370456.4	+	6	795	c.702C>T	c.(700-702)ttC>ttT	p.F234F	GBP6_ENST00000535065.1_Silent_p.F104F	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	234							GTP binding|GTPase activity	p.F234>?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GGAAGTGTTTCGTCTTTGACC	0.413000													5	65					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85435131	85435131	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:85435131G>A	ENST00000359152.5	-	1	3940	c.3941C>T	c.(3940-3942)tCt>tTt	p.S1314F	SYTL2_ENST00000354566.3_Missense_Mutation_p.S790F|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.S790F	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	471					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)		TGAAAAATCAGACTCAGAGAA	0.353000													47	58					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114282	56114282	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:56114282G>T	ENST00000279783.2	+	1	862	c.768G>T	c.(766-768)atG>atT	p.M256I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGGTGATCATGTTCTATGGGA	0.408000										HNSCC(65;0.19)			23	74					8.04996e-18	1.29416e-17	1	1	0
PTPRO	5800	broad.mit.edu	37	12	15677803	15677803	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:15677803C>T	ENST00000281171.4	+	11	2277	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	PTPRO_ENST00000348962.2_Silent_p.I649I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	649	Fibronectin type-III 7.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGTTATATATCAGTTGGACAT	0.393000													5	78					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56482537	56482537	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:56482537G>A	ENST00000267101.3	+	9	1434	c.994G>A	c.(994-996)Gag>Aag	p.E332K	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.E273K	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	332					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E332K(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGCAGCCTGTGAGGGAACAGG	0.522000													31	108					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219563774	219563774	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:219563774G>T	ENST00000295709.3	+	26	3786	c.3507G>T	c.(3505-3507)cgG>cgT	p.R1169R	STK36_ENST00000440309.1_Silent_p.R1169R|STK36_ENST00000392105.3_Silent_p.R1148R|STK36_ENST00000392106.2_Silent_p.R1148R	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1169					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGTTGTGCGGTGCAGTGCCA	0.622000													9	51					1.12685e-05	1.34422e-05	1	1	0
GGA1	26088	broad.mit.edu	37	22	38016323	38016323	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:38016323G>A	ENST00000406772.1	+	6	815	c.163G>A	c.(163-165)Gag>Aag	p.E55K	GGA1_ENST00000381756.5_Missense_Mutation_p.E145K|GGA1_ENST00000343632.4_Missense_Mutation_p.E128K|GGA1_ENST00000337437.4_Missense_Mutation_p.E95K|GGA1_ENST00000325180.8_Missense_Mutation_p.E128K	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	128	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGGCCTGCCCGAGGAGGTGAA	0.607000													10	144					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34823250	34823250	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:34823250C>G	ENST00000265109.3	+	15	1590	c.1303C>G	c.(1303-1305)Caa>Gaa	p.Q435E	RAI14_ENST00000397449.1_Missense_Mutation_p.Q428E|RAI14_ENST00000512629.1_Missense_Mutation_p.Q406E|RAI14_ENST00000515799.1_Missense_Mutation_p.Q438E|RAI14_ENST00000428746.2_Missense_Mutation_p.Q435E|RAI14_ENST00000506376.1_Missense_Mutation_p.Q427E|RAI14_ENST00000503673.1_Missense_Mutation_p.Q435E	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	435						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TCAGCAACTGCAAGAGATTTT	0.433000													8	193					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50036084	50036084	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:50036084A>T	ENST00000261897.1	+	19	2397	c.1846A>T	c.(1846-1848)Agg>Tgg	p.R616W	PRPF40B_ENST00000380281.1_Missense_Mutation_p.R629W|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R651W|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	629					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GATGCGGCGCAGGGAAGCTGC	0.642000													19	67					0	0	1	0	0
LOC100129781	100129781	broad.mit.edu	37	16	14397884	14397884	+	RNA	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:14397884C>T	ENST00000570945.1	+	0	310				MIR193B_ENST00000384907.1_RNA																							AACTGGCCCTCAAAGTCCCGC	0.577000													13	126					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97679330	97679330	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:97679330G>A	ENST00000275053.4	-	13	1766	c.1501C>T	c.(1501-1503)Cct>Tct	p.P501S	MMS22L_ENST00000369251.2_Missense_Mutation_p.P461S	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	501					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAAGGATGAGGGCCATTGCTC	0.343000													6	21					0	0	1	0	0
TES	26136	broad.mit.edu	37	7	115892431	115892431	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:115892431C>T	ENST00000358204.4	+	6	1193	c.978C>T	c.(976-978)ttC>ttT	p.F326F	TES_ENST00000393481.2_Silent_p.F317F|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_Silent_p.F84F	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	326	LIM zinc-binding 2.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			TGAAACACTTCTGCTGCTTTG	0.418000													9	103					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34033422	34033422	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:34033422G>T	ENST00000373381.4	-	53	8327	c.8151C>A	c.(8149-8151)caC>caA	p.H2717Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2712	Sushi 18.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGAAAATGGAGTGGAGCTTGG	0.507000													6	15					0.00116845	0.00126781	1	1	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360631	71360631	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:71360631G>T	ENST00000244230.2	+	2	1045	c.693G>T	c.(691-693)gaG>gaT	p.E231D	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.E231D	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	231	Poly-Glu.				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ATGAGGAGGAGGAAGATATTG	0.338000													20	60					1.28384e-07	1.6454e-07	1	1	0
FER	2241	broad.mit.edu	37	5	108516524	108516524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:108516524G>T	ENST00000281092.4	+	18	2509	c.2125G>T	c.(2125-2127)Gag>Tag	p.E709*	FER_ENST00000438717.2_Nonsense_Mutation_p.E534*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	709	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTCTCGTCAAGAGGATGGTGG	0.403000													5	75					0.014758	0.0152889	1	1	0
KLK2	3817	broad.mit.edu	37	19	51381679	51381679	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:51381679T>G	ENST00000325321.3	+	5	875	c.650T>G	c.(649-651)cTt>cGt	p.L217R	KLK2_ENST00000391810.2_Missense_Mutation_p.L115R|KLK2_ENST00000358049.4_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	217	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GGGGGTCCACTTGTCTGTAAT	0.537000			T	ETV4	prostate								10	172					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885525	29885525	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:29885525C>G	ENST00000310624.6	+	4	1929	c.1896C>G	c.(1894-1896)gtC>gtG	p.V632V		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	632	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAGCTGAGGTCAAGTCCCCGG	0.557000													5	100					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710926	140710926	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140710926C>A	ENST00000517417.1	+	1	675	c.675C>A	c.(673-675)acC>acA	p.T225T	PCDHGA1_ENST00000378105.3_Silent_p.T225T	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCAGGGACCCTCAGAATTT	0.502000													11	51					2.27111e-07	2.87417e-07	1	1	0
VSTM1	284415	broad.mit.edu	37	19	54545592	54545592	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:54545592G>A	ENST00000338372.2	-	5	601	c.426C>T	c.(424-426)agC>agT	p.S142S	VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Silent_p.S54S|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	142						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TGGAGATGCAGCTGAAGATGG	0.542000													4	32					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632132	32632132	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:32632132C>T	ENST00000242310.4	-	1	3535	c.3446G>A	c.(3445-3447)cGg>cAg	p.R1149Q		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1149					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TAGCATTCGCCGTAGTTCCTT	0.483000													54	58					0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234735	26234735	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:26234735C>A	ENST00000244534.5	-	1	481	c.427G>T	c.(427-429)Gct>Tct	p.A143S		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	143					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCGGCGCCAGCCACCTTCTTG	0.572000													35	62					1.22384e-17	1.95814e-17	1	1	0
SLC29A3	55315	broad.mit.edu	37	10	73122269	73122269	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:73122269G>T	ENST00000373189.5	+	6	1384	c.1332G>T	c.(1330-1332)gaG>gaT	p.E444D	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	444					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGCCCAGGGAGCTGGCTGAGG	0.612000													13	70					4.3838e-07	5.49269e-07	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185800741	185800741	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:185800741G>T	ENST00000302277.6	+	4	1212	c.618G>T	c.(616-618)ggG>ggT	p.G206G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	206						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGCCCAGGGGATTCACAGAC	0.423000													20	65					2.37509e-13	3.55734e-13	1	1	0
ARHGEF3	50650	broad.mit.edu	37	3	56779427	56779427	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:56779427C>G	ENST00000413728.2	-	7	1237	c.694G>C	c.(694-696)Gac>Cac	p.D232H	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D232H|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D258H|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D197H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D226H|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.D226H	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	226	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TTTTTGTGGTCCAGCAGAGCT	0.468000													20	148					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6912997	6912997	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:6912997G>A	ENST00000299459.2	-	1	833	c.735C>T	c.(733-735)ctC>ctT	p.L245L		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGACCACCATGAGGTGGGAGC	0.428000													14	37					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94680115	94680115	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:94680115G>T	ENST00000377047.4	+	4	1459	c.844G>T	c.(844-846)Gct>Tct	p.A282S		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	282						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GGCAAATCAGGCTGACCTCGA	0.498000													22	171					1.96292e-10	2.74618e-10	1	1	0
MMP12	4321	broad.mit.edu	37	11	102742605	102742605	+	RNA	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:102742605T>G	ENST00000532855.1	-	0	524							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GGGGGTAACATTACTCCATAC	0.413000													5	28					0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45870993	45870993	+	Splice_Site	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:45870993C>G	ENST00000185206.6	-	6	1218		c.e6-1		CLIC5_ENST00000339561.6_Splice_Site	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5						female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TGGCCACAATCTAAAACAGAG	0.502000													10	38					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161165369	161165369	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:161165369G>T	ENST00000367996.4	-	4	1575	c.1147C>A	c.(1147-1149)Cct>Act	p.P383T	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	383	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTGCTCAAAGGCCCATTCAAA	0.567000													31	142					1.39806e-14	2.13683e-14	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65271249	65271249	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:65271249G>T	ENST00000534336.1	+	0	6017					NR_002819.2																						GATTTGAGCGGAAGAACGAAT	0.403000													6	37					0.00116845	0.00126781	1	1	0
MPP3	4356	broad.mit.edu	37	17	41898262	41898262	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:41898262G>T	ENST00000398393.1	-	9	1184	c.924C>A	c.(922-924)gcC>gcA	p.A308A	MPP3_ENST00000398389.4_Silent_p.A283A			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	283					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GGATGAGGCCGGCTCGAAGGT	0.662000													3	32					0.004672	0.00494163	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71493644	71493644	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:71493644C>T	ENST00000296755.7	+	5	4760	c.4462C>T	c.(4462-4464)Cca>Tca	p.P1488S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1488						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAGTTCTCAACCAGCACTGGC	0.403000													20	65					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55570374	55570374	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:55570374C>A	ENST00000373965.2	-	35	4839	c.4445G>T	c.(4444-4446)gGa>gTa	p.G1482V	PCDH15_ENST00000414778.1_Missense_Mutation_p.G1479V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1499Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1482V|PCDH15_ENST00000409834.1_Missense_Mutation_p.D1110Y|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				TTCCTCCTGTCCAGCTGGTGG	0.378000										HNSCC(58;0.16)			17	127					6.94344e-10	9.52892e-10	1	1	0
PLCXD2	257068	broad.mit.edu	37	3	111426975	111426975	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:111426975G>T	ENST00000393934.3	+	2	936	c.366G>T	c.(364-366)ggG>ggT	p.G122G	PLCXD2_ENST00000477665.1_Silent_p.G122G	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	122	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCAAACCAGGGGATGCCGACC	0.512000													12	98					2.80697e-09	3.78013e-09	1	1	0
DPYD	1806	broad.mit.edu	37	1	97700425	97700425	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:97700425C>A	ENST00000370192.3	-	19	2525	c.2425G>T	c.(2425-2427)Ggt>Tgt	p.G809C	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	809					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACGGAAGCACCACTATGGAGA	0.428000													5	29					0.014758	0.0152889	1	1	0
TENM1	10178	broad.mit.edu	37	X	123514556	123514556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:123514556C>A	ENST00000422452.2	-	32	8092	c.8029G>T	c.(8029-8031)Gaa>Taa	p.E2677*	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Nonsense_Mutation_p.E2670*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATCCCCTCTTCCCCCTCTTGC	0.522000													64	67					9.04393e-38	1.59097e-37	1	1	0
CPS1	1373	broad.mit.edu	37	2	211464234	211464234	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:211464234C>A	ENST00000233072.5	+	14	1694	c.1498C>A	c.(1498-1500)Cag>Aag	p.Q500K	CPS1_ENST00000451903.2_Missense_Mutation_p.Q49K|CPS1_ENST00000430249.2_Missense_Mutation_p.Q506K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	500					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAAGGCAGAACAGCCAGATGG	0.478000													21	78					1.40151e-16	2.21256e-16	1	1	0
ARHGAP6	395	broad.mit.edu	37	X	11204421	11204421	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:11204421A>T	ENST00000337414.4	-	5	2080	c.1208T>A	c.(1207-1209)cTg>cAg	p.L403Q	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L200Q|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.L435Q|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.L403Q|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.L212Q|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.L228Q|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L200Q	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	403	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AATAGGATTCAGACTGAGTTT	0.428000													48	54					0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124936801	124936801	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:124936801C>A	ENST00000536616.1	+	4	372	c.334C>A	c.(334-336)Cca>Aca	p.P112T	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.P112T			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	112										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						CAATATGGACCCACCTAGAAA	0.453000													23	30					2.39556e-15	3.70073e-15	1	1	0
DDX26B	203522	broad.mit.edu	37	X	134680696	134680696	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:134680696A>T	ENST00000370752.4	+	5	833	c.499A>T	c.(499-501)Agg>Tgg	p.R167W	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	167	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGGATCAAAGGTTATTTGC	0.468000													25	50					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961124	34961124	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:34961124G>T	ENST00000329357.5	+	1	212	c.176G>T	c.(175-177)cGc>cTc	p.R59L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	59										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GACGACTTCCGCTACGCCTGT	0.557000													20	25					1.00905e-13	1.51809e-13	1	1	0
BST1	683	broad.mit.edu	37	4	15717419	15717419	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:15717419A>G	ENST00000382346.3	+	7	795	c.746A>G	c.(745-747)aAt>aGt	p.N249S	BST1_ENST00000265016.4_Missense_Mutation_p.N234S			Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	234					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						GGGGGACCCAATGTGTAAGTT	0.323000													4	48					0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75698574	75698574	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:75698574G>T	ENST00000393284.3	-	8	704	c.103C>A	c.(103-105)Cct>Act	p.P35T	CAPS2_ENST00000409799.1_Missense_Mutation_p.P217T|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409445.3_Missense_Mutation_p.P267T|CAPS2_ENST00000442339.2_5'UTR			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	267							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AATCGAAGAGGTGTCATCTTT	0.308000													6	22					0.0215528	0.022248	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121608082	121608082	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:121608082G>A	ENST00000393386.2	+	3	613	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E68K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	68	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAATATTGATGAAGATCTTAC	0.328000													18	64					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99568588	99568588	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:99568588G>T	ENST00000331335.5	-	5	2402	c.1932C>A	c.(1930-1932)gcC>gcA	p.A644A	FILIP1L_ENST00000487087.1_Silent_p.A220A|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Silent_p.A404A|FILIP1L_ENST00000354552.3_Silent_p.A644A|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Silent_p.A404A	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	644						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CATCCTCAATGGCTTTCATGT	0.383000													28	143					1.42536e-11	2.06135e-11	1	1	0
CEP70	80321	broad.mit.edu	37	3	138291755	138291755	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:138291755G>A	ENST00000264982.3	-	3	281	c.15C>T	c.(13-15)gcC>gcT	p.A5A	CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Silent_p.A5A|CEP70_ENST00000481834.1_Silent_p.A5A|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000464035.1_Silent_p.A5A|CEP70_ENST00000542237.1_Intron	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	5					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GGGGTTTAGGGGCTACCGGAA	0.338000													12	91					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35544182	35544182	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:35544182C>G	ENST00000287272.2	+	6	891	c.871C>G	c.(871-873)Cta>Gta	p.L291V	UNC5D_ENST00000416672.1_Missense_Mutation_p.L347V|UNC5D_ENST00000420357.1_Missense_Mutation_p.L291V|UNC5D_ENST00000404895.2_Missense_Mutation_p.L347V|UNC5D_ENST00000453357.2_Missense_Mutation_p.L342V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	347	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ctgtgaaggtctaagccagga	0.473000													13	22					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88140771	88140771	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:88140771G>A	ENST00000507897.1	+	10	1263	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	C6ORF165_ENST00000369562.4_Missense_Mutation_p.D394N			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	394										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AAATGTGGCAGATTTCAGAAA	0.338000													13	24					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67881016	67881016	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:67881016C>A	ENST00000370994.4	-	7	1054	c.940G>T	c.(940-942)Gct>Tct	p.A314S	SERBP1_ENST00000370995.2_Missense_Mutation_p.A335S|SERBP1_ENST00000370990.5_Missense_Mutation_p.A329S|SERBP1_ENST00000361219.6_Missense_Mutation_p.A320S	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	335					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GAATCTTCAGCATGAGCCTAA	0.373000													17	98					1.02788e-11	1.48973e-11	1	1	0
TRIO	7204	broad.mit.edu	37	5	14472747	14472747	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:14472747G>T	ENST00000344204.4	+	39	5983	c.5959G>T	c.(5959-5961)Gac>Tac	p.D1987Y	TRIO_ENST00000537187.1_Missense_Mutation_p.D1987Y	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1987	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTATGTGCGGGACCTTGGCTA	0.373000													85	54					5.00475e-40	8.82727e-40	1	1	0
EPHA7	2045	broad.mit.edu	37	6	94120376	94120376	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:94120376G>T	ENST00000369303.4	-	3	859	c.675C>A	c.(673-675)tcC>tcA	p.S225S	EPHA7_ENST00000369297.1_Silent_p.S225S	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	225	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CGACTAAAGAGGAAAATTCTG	0.468000													30	46					6.38683e-12	9.31009e-12	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2816510	2816510	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:2816510C>G	ENST00000301740.8	+	11	6530	c.5981C>G	c.(5980-5982)tCt>tGt	p.S1994C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1994	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						CGAAGGAGATCTCGATCTCGC	0.567000													24	76					0	0	1	0	0
KCNAB3	9196	broad.mit.edu	37	17	7830694	7830694	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:7830694C>T	ENST00000303790.2	-	4	371	c.372G>A	c.(370-372)ctG>ctA	p.L124L	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	124						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CGGTGTCAAACAGGTTTACAC	0.507000													49	102					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220142279	220142279	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:220142279C>G	ENST00000366923.3	-	32	4677	c.4408G>C	c.(4408-4410)Ggt>Cgt	p.G1470R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1470	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GATGGAGCACCAGGTTCAAGA	0.418000													26	41					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744705	62744705	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:62744705C>A	ENST00000377871.3	-	9	1782	c.1516G>T	c.(1516-1518)Gag>Tag	p.E506*	SLC22A6_ENST00000421062.2_Nonsense_Mutation_p.E462*|SLC22A6_ENST00000458333.2_Nonsense_Mutation_p.E462*|SLC22A6_ENST00000360421.4_Nonsense_Mutation_p.E506*	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	506					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCAGGGTCTCTGGCAGGAGG	0.612000													32	83					4.74835e-14	7.1921e-14	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2809355	2809355	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:2809355C>T	ENST00000301740.8	+	8	1241	c.692C>T	c.(691-693)tCt>tTt	p.S231F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	231	Lys-rich.|Ser-rich.|Sufficient for RNA-binding.					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						TTTCCCAGGTCTCCCACTCCA	0.393000													7	72					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137622106	137622106	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:137622106G>T	ENST00000371817.3	+	7	1363	c.949G>T	c.(949-951)Gct>Tct	p.A317S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	317	Nonhelical region.				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)		CCCCACGGAAGCTGCTCCCAT	0.642000													35	73					6.84511e-11	9.69764e-11	1	1	0
TCERG1L	256536	broad.mit.edu	37	10	132944916	132944916	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:132944916C>A	ENST00000368642.4	-	7	1127	c.1042G>T	c.(1042-1044)Gtc>Ttc	p.V348F		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	348	WW 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CCCGTCCAGACCACACACCTG	0.512000													11	65					1.08611e-07	1.39732e-07	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67147722	67147722	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:67147722C>A	ENST00000371037.4	+	15	1062	c.985C>A	c.(985-987)Cca>Aca	p.P329T	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P333T|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	329	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GGAGTTGACTCCAAGGGAAAA	0.572000													18	126					2.5808e-16	4.05209e-16	1	1	0
SMOC1	64093	broad.mit.edu	37	14	70442476	70442476	+	Silent	SNP	G	G	T	rs149500882	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:70442476G>T	ENST00000381280.4	+	4	676	c.423G>T	c.(421-423)ccG>ccT	p.P141P	SMOC1_ENST00000361956.3_Silent_p.P141P	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	141	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GTGTCACCCCGGATGGGAAGC	0.498000													13	36					5.50884e-06	6.63826e-06	1	1	0
OR52I2	143502	broad.mit.edu	37	11	4608818	4608818	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:4608818C>A	ENST00000312614.4	+	1	798	c.776C>A	c.(775-777)tCc>tAc	p.S259Y		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	259					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)		TTTGGTCTCTCCTCAAAGACT	0.478000													12	147					7.03913e-09	9.40416e-09	1	1	0
AP3B2	8120	broad.mit.edu	37	15	83328639	83328639	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:83328639G>T	ENST00000261722.3	-	25	3263	c.3056C>A	c.(3055-3057)gCc>gAc	p.A1019D	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.A987D|AP3B2_ENST00000535359.1_Missense_Mutation_p.A1038D	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1019					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACCCAGGTTGGCAGTGGCAGT	0.537000													16	101					1.99824e-07	2.55288e-07	1	1	0
SLC6A12	6539	broad.mit.edu	37	12	310986	310986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:310986C>A	ENST00000428720.1	-	6	1263	c.520G>T	c.(520-522)Gga>Tga	p.G174*	SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.G174*|SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.G174*|SLC6A12_ENST00000538272.1_Intron|SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.G174*|SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.G174*	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	174					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GTGCCGGCTCCTGAGTGGTTC	0.517000													34	42					2.80507e-11	4.0278e-11	1	1	0
SPANXC	64663	broad.mit.edu	37	X	140336566	140336566	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:140336566C>A	ENST00000358993.2	-	1	63	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	9						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					CTCTTCACCCCGCCGGCACTG	0.493000													17	74					7.07596e-05	8.13292e-05	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38407176	38407176	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:38407176G>T	ENST00000322350.5	+	8	1421	c.1075G>T	c.(1075-1077)Gtc>Ttc	p.V359F	EGFLAM_ENST00000354891.3_Missense_Mutation_p.V359F|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.V125F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	359	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAGCTTCTGTGTCAATGACTA	0.542000													93	40					7.28744e-38	1.2831e-37	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38596038	38596038	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:38596038G>T	ENST00000413689.1	-	27	4738	c.4545C>A	c.(4543-4545)aaC>aaA	p.N1515K	SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000425664.1_Missense_Mutation_p.N1497K|SCN5A_ENST00000443581.1_Missense_Mutation_p.N1514K|SCN5A_ENST00000414099.2_Missense_Mutation_p.N1497K|SCN5A_ENST00000423572.2_Missense_Mutation_p.N1514K|SCN5A_ENST00000333535.4_Missense_Mutation_p.N1515K|SCN5A_ENST00000449557.2_Missense_Mutation_p.N1461K|SCN5A_ENST00000451551.2_Missense_Mutation_p.N1461K|SCN5A_ENST00000450102.2_Missense_Mutation_p.N1461K|SCN5A_ENST00000455624.2_Missense_Mutation_p.N1514K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1515					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCTGGTACTTGTTCTGAAAGG	0.527000													28	52					3.73148e-12	5.46308e-12	1	1	0
MYPN	84665	broad.mit.edu	37	10	69921506	69921506	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:69921506C>A	ENST00000358913.5	+	8	1968	c.1480C>A	c.(1480-1482)Cca>Aca	p.P494T	MYPN_ENST00000354393.2_Missense_Mutation_p.P219T|MYPN_ENST00000373675.3_Missense_Mutation_p.P494T|MYPN_ENST00000540630.1_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	494	Ig-like 2.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CATGGCAGAGCCAGGTAAAGA	0.289000													12	40					3.27435e-08	4.28643e-08	1	1	0
RNF5	6048	broad.mit.edu	37	6	32147882	32147882	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:32147882G>A	ENST00000427134.2	+	5	439	c.424G>A	c.(424-426)Gag>Aag	p.E142K	RNF5_ENST00000375094.3_Missense_Mutation_p.E142K			Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	142					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						CAATGCCCATGAGCCTTTCCG	0.557000													14	222					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204013744	204013744	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:204013744G>A	ENST00000449802.1	+	33	5581	c.5248G>A	c.(5248-5250)Gca>Aca	p.A1750T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1750							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAATCGAAAAGCACGCCAAGA	0.353000													9	43					0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34302265	34302265	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:34302265C>A	ENST00000361162.6	-	11	1322	c.938G>T	c.(937-939)gGa>gTa	p.G313V	RBM39_ENST00000407261.4_Missense_Mutation_p.G156V|RBM39_ENST00000528062.3_Missense_Mutation_p.G291V|RBM39_ENST00000253363.6_Missense_Mutation_p.G313V	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	313	Activating domain (By similarity).|Interaction with JUN (By similarity).|RRM 2.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TAGTTCAAATCCATTAAGTTG	0.398000													7	54					8.12818e-05	9.27883e-05	1	1	0
ABCC5	10057	broad.mit.edu	37	3	183699584	183699584	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:183699584C>T	ENST00000334444.6	-	8	1318	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.E360K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	360	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTAAGAACTTCATTCATCTTC	0.408000													5	84					0	0	1	0	0
GOLT1B	51026	broad.mit.edu	37	12	21665283	21665283	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:21665283C>A	ENST00000229314.5	+	4	460	c.351C>A	c.(349-351)tcC>tcA	p.S117S	GOLT1B_ENST00000542038.1_Silent_p.S53S|GOLT1B_ENST00000540141.1_Silent_p.S117S|GOLT1B_ENST00000535593.1_3'UTR	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	117					positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						TCCTTGGATCCCTCCTAAATT	0.343000													21	153					9.57634e-11	1.3529e-10	1	1	0
PZP	5858	broad.mit.edu	37	12	9355245	9355245	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:9355245G>C	ENST00000261336.2	-	3	331	c.303C>G	c.(301-303)ttC>ttG	p.F101L		NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGATGCTAAGGAATGCCACCT	0.463000													45	68					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52306221	52306221	+	Missense_Mutation	SNP	C	C	T	rs2277382	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:52306221C>T	ENST00000550683.1	+	1	106	c.5C>T	c.(4-6)gCt>gTt	p.A2V	ACVRL1_ENST00000419526.2_Missense_Mutation_p.A2V|ACVRL1_ENST00000388922.4_Intron	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	0					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CACTTCATGGCTCTTACTCCA	0.607000													4	28					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78722224	78722224	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:78722224G>C	ENST00000545128.1	+	9	1703	c.1165G>C	c.(1165-1167)Gcc>Ccc	p.A389P	PCSK5_ENST00000376767.3_Missense_Mutation_p.A389P|PCSK5_ENST00000376752.4_Missense_Mutation_p.A389P	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	389	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTCAGCCTCAGCCCCCATGGC	0.507000													13	43					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107707	168107707	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:168107707G>T	ENST00000409195.1	+	9	9894	c.9805G>T	c.(9805-9807)Gct>Tct	p.A3269S	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A3047S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A3269S|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3094					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						GGAGAAGAGAGCTACTTATGT	0.423000													16	84					6.31663e-08	8.2051e-08	1	1	0
A2ML1	144568	broad.mit.edu	37	12	9009819	9009819	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:9009819T>A	ENST00000299698.7	+	24	3088	c.2908T>A	c.(2908-2910)Tgt>Agt	p.C970S	A2ML1_ENST00000539547.1_Missense_Mutation_p.C479S	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	814						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GCCCAGTGGCTGTGGCGAGCA	0.557000													66	73					0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67488256	67488256	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:67488256A>G	ENST00000522677.3	-	10	1866	c.1456T>C	c.(1456-1458)Ttt>Ctt	p.F486L	MYBL1_ENST00000517885.1_Missense_Mutation_p.F144L|MYBL1_ENST00000524176.2_Missense_Mutation_p.F486L	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	486	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			GAAGGAGAAAATGGTAGTGTT	0.398000													16	31					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78789628	78789628	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:78789628C>T	ENST00000258886.8	+	21	2905	c.2756C>T	c.(2755-2757)tCt>tTt	p.S919F		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	919							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GAAGAACTGTCTCCTGGAATT	0.343000													4	43					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198683	170198683	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:170198683G>T	ENST00000231706.4	-	7	1703	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	463						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGGAGAACAAGCTTCCTTCTC	0.498000													39	87					5.43694e-19	8.89681e-19	1	1	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184177	26184177	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:26184177G>T	ENST00000356530.3	+	1	220	c.154G>T	c.(154-156)Gac>Tac	p.D52Y		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	52					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						GGTCCACCCCGACACCGGCAT	0.577000													18	197					3.99206e-14	6.05567e-14	1	1	0
BCOR	54880	broad.mit.edu	37	X	39933592	39933592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:39933592G>T	ENST00000342274.4	-	4	1369	c.1007C>A	c.(1006-1008)tCg>tAg	p.S336*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.S336*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.S336*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.S336*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	336					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGGCCGAGGCGAGGGGGGCAA	0.632000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						3	10					0.115264	0.117064	1	1	0
ZFR2	23217	broad.mit.edu	37	19	3822106	3822106	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:3822106C>T	ENST00000262961.4	-	9	1474	c.1464G>A	c.(1462-1464)agG>agA	p.R488R		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	488						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCCGCCGCCCCCTCACGTGCA	0.677000													3	10					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937001	33937001	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:33937001G>T	ENST00000330120.3	+	1	511	c.156G>T	c.(154-156)ctG>ctT	p.L52L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	52						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGTGGGAGCTGGGGCTGGAGT	0.677000													7	166					1.6384e-10	2.30175e-10	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61538498	61538498	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:61538498C>A	ENST00000266070.4	-	5	1700		c.e5+1		DIDO1_ENST00000395343.1_Splice_Site|DIDO1_ENST00000370366.1_Splice_Site|DIDO1_ENST00000354665.4_Splice_Site|DIDO1_ENST00000395335.2_Splice_Site|DIDO1_ENST00000370368.1_Splice_Site|DIDO1_ENST00000395340.1_Splice_Site|DIDO1_ENST00000370371.4_Splice_Site|DIDO1_ENST00000266071.5_Splice_Site	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1						apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTCCACTCACCTGAGCACCG	0.532000													61	133					2.43698e-19	4.00815e-19	1	1	0
RORA	6095	broad.mit.edu	37	15	60795017	60795017	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:60795017C>G	ENST00000335670.6	-	8	1225	c.1125G>C	c.(1123-1125)caG>caC	p.Q375H	RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.Q400H|RORA_ENST00000261523.5_Missense_Mutation_p.Q408H|RORA_ENST00000449337.2_Missense_Mutation_p.Q320H	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	408	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Q408H(1)|p.Q400H(1)|p.Q375H(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						CGGTGTTGTTCTGAGAGTCAA	0.463000													49	170					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32954002	32954002	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:32954002G>T	ENST00000321639.5	+	3	982	c.654G>T	c.(652-654)gtG>gtT	p.V218V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	218						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCGGGGAAGTGCTCAGCATCC	0.657000													8	81					0.000157383	0.000177651	1	1	0
HMGB1	3146	broad.mit.edu	37	13	31037772	31037772	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:31037772A>T	ENST00000405805.1	-	2	986	c.46T>A	c.(46-48)Tat>Aat	p.Y16N	HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000341423.5_Missense_Mutation_p.Y16N|HMGB1_ENST00000399494.1_Missense_Mutation_p.Y16N|HMGB1_ENST00000326004.4_Missense_Mutation_p.Y16N|HMGB1_ENST00000339872.4_Missense_Mutation_p.Y16N|HMGB1_ENST00000399489.1_Missense_Mutation_p.Y16N			P09429	HMGB1_HUMAN	high mobility group box 1	16					base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		AAAAATGCATATGATGACATT	0.358000													10	121					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360244	72360244	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:72360244G>T	ENST00000001146.2	-	5	1257	c.1054C>A	c.(1054-1056)Cgc>Agc	p.R352S	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R277S|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R161S	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	352					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TCCAGGTAGCGCAGCCCACTG	0.647000													10	50					2.17888e-05	2.56129e-05	1	1	0
TRBV5-6	28609	broad.mit.edu	37	7	142131835	142131835	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:142131835C>A	ENST00000390375.2	-	0	83																											TCACCTGCTCCCAGGAGACAA	0.617000													12	62					0.00136819	0.00148056	1	1	0
ZNF506	440515	broad.mit.edu	37	19	19906313	19906313	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:19906313C>G	ENST00000443905.2	-	4	530	c.383G>C	c.(382-384)aGa>aCa	p.R128T	ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000540806.2_Missense_Mutation_p.R128T|ZNF506_ENST00000450683.2_Missense_Mutation_p.R96T|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ATTATAACCTCTTTTGTGCAC	0.303000													5	84					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	224543	224543	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:224543C>T	ENST00000264932.6	+	3	334	c.219C>T	c.(217-219)ggC>ggT	p.G73G	SDHA_ENST00000504309.1_Silent_p.G73G|SDHA_ENST00000510361.1_Silent_p.G73G	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	73					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GAGGGGCAGGCTTGCGAGCTG	0.478000									Familial Paragangliomas				11	238					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9197323	9197323	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:9197323C>G	ENST00000382496.5	-	10	1690	c.1025G>C	c.(1024-1026)cGc>cCc	p.R342P		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	342	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCAGGCCGAGCGCGAGTTTTC	0.592000													31	80					0	0	1	0	0
AKAP5	9495	broad.mit.edu	37	14	64935578	64935578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:64935578G>T	ENST00000320636.5	+	1	1754	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000394718.3_Nonsense_Mutation_p.E156*			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	156	Essential to the intracellular anchoring function (By similarity).				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CAAAGTCCAGGAAGAAGCTGA	0.408000													10	155					2.17888e-05	2.56129e-05	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10470502	10470502	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:10470502C>A	ENST00000382483.3	-	4	1329	c.1106G>T	c.(1105-1107)tGg>tTg	p.W369L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	369					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTAGCCCTCCCACACACAGCA	0.697000													23	41					2.89027e-11	4.14717e-11	1	1	0
CP	1356	broad.mit.edu	37	3	148928104	148928104	+	Nonsense_Mutation	SNP	C	C	A	rs138646392	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:148928104C>A	ENST00000264613.6	-	3	719	c.457G>T	c.(457-459)Gag>Tag	p.E153*		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	153	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTATACTGCTCTCCTGGATAT	0.443000													30	92					7.01153e-11	9.91252e-11	1	1	0
ARNTL2	56938	broad.mit.edu	37	12	27553547	27553547	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:27553547A>T	ENST00000544915.1	+	9	1117	c.898A>T	c.(898-900)Agg>Tgg	p.R300W	ARNTL2_ENST00000266503.5_Missense_Mutation_p.R334W|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R297W|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R286W|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R320W|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R297W|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R249W	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	334					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GGAAGAAGAAAGGAACAGTAA	0.363000													9	95					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54028636	54028636	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:54028636C>G	ENST00000338154.6	-	10	1597	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	PHF8_ENST00000338946.6_Missense_Mutation_p.E365Q|PHF8_ENST00000322659.8_Missense_Mutation_p.E365Q|PHF8_ENST00000357988.5_Missense_Mutation_p.E401Q	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	401	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CAGATGGTCTCAAAGTTGGGG	0.483000													4	22					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38743502	38743502	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:38743502C>T	ENST00000449082.2	-	26	4484	c.4485G>A	c.(4483-4485)gtG>gtA	p.V1495V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1495					sensory perception	voltage-gated sodium channel complex		p.V1495V(1)		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)	CATCAGTCTCCACCATCATGG	0.448000													37	47					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49098707	49098707	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:49098707C>A	ENST00000262013.7	-	7	1011	c.803G>T	c.(802-804)aGc>aTc	p.S268I	SPAG9_ENST00000510283.1_Missense_Mutation_p.S111I|SPAG9_ENST00000505279.1_Missense_Mutation_p.S254I|SPAG9_ENST00000357122.4_Missense_Mutation_p.S254I	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	268					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCCGCCTTGGCTAACATCAGA	0.333000													11	111					0.00829132	0.00872406	1	1	0
IGDCC3	9543	broad.mit.edu	37	15	65621336	65621336	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:65621336G>T	ENST00000327987.4	-	14	2607	c.2356C>A	c.(2356-2358)Cca>Aca	p.P786T		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	786	Poly-Pro.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCCATCTGGGGGTGGTGGG	0.697000													7	31					8.12818e-05	9.27883e-05	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51890803	51890803	+	Missense_Mutation	SNP	C	C	G	rs139820610		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:51890803C>G	ENST00000371117.3	-	32	4080	c.3805G>C	c.(3805-3807)Gtg>Ctg	p.V1269L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1269L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1269	IPT/TIG 7.				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)					CAGACCTCCACGGCAGCTGGA	0.592000													8	57					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039210	11039210	+	RNA	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr21:11039210G>A	ENST00000470054.1	-	0	993									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)		AAATTTTGGAGGCCTTGATTC	0.418000													14	218					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142562357	142562357	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:142562357G>A	ENST00000392957.2	+	7	1586	c.799G>A	c.(799-801)Gag>Aag	p.E267K	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.E267K	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	267	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCTCATGCAGAGCCAGAGGA	0.682000													36	72					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6707253	6707253	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:6707253A>G	ENST00000309577.6	-	12	1862	c.1699T>C	c.(1699-1701)Tgt>Cgt	p.C567R	CHD4_ENST00000544484.1_Missense_Mutation_p.C564R|CHD4_ENST00000544040.1_Missense_Mutation_p.C560R|CHD4_ENST00000357008.2_Missense_Mutation_p.C567R			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	567	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATCACCTGACAGTGCAGCTCC	0.468000													54	132					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32740484	32740484	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:32740484C>G	ENST00000373564.3	+	2	252	c.252C>G	c.(250-252)ctC>ctG	p.L84L	LCK_ENST00000333070.4_Intron|LCK_ENST00000336890.5_Intron			P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	193	SH3.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GCTTCCACCTCTCCCCCACCT	0.632000			T	TRB@	T-ALL								6	29					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230364	140230364	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140230364G>A	ENST00000378122.3	+	1	3008	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.E762K|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTCTGGCGAGGGTAAGCA	0.627000													6	87					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46542136	46542136	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:46542136G>A	ENST00000242848.4	-	15	4172	c.3824C>T	c.(3823-3825)tCa>tTa	p.S1275L	ZC3H13_ENST00000282007.3_Missense_Mutation_p.S1275L|ZC3H13_ENST00000378921.2_Missense_Mutation_p.S231L			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1275	Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|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;4.18e-05)		ACTTCTTCTTGAACTATGGCT	0.373000													29	122					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440205	124440205	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:124440205A>T	ENST00000284287.3	+	1	313	c.241A>T	c.(241-243)Agc>Tgc	p.S81C		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CTACTTTCTCAGCAATCTGTC	0.493000													7	146					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625198	74625198	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:74625198G>A	ENST00000156626.7	-	2	926	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	243					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGCGTCGTGGGGCTCTGGAAA	0.532000													17	62					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150483608	150483608	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:150483608G>T	ENST00000369047.4	+	6	767	c.642G>T	c.(640-642)gaG>gaT	p.E214D	ECM1_ENST00000346569.6_Missense_Mutation_p.E214D|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.E241D	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	214	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ATTTCCTGGAGATTGGATATT	0.567000													78	176					5.29152e-50	9.38233e-50	1	1	0
NR5A2	2494	broad.mit.edu	37	1	200013008	200013008	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:200013008T>G	ENST00000367362.3	+	3	555	c.309T>G	c.(307-309)tgT>tgG	p.C103W	NR5A2_ENST00000236914.3_Missense_Mutation_p.C57W|NR5A2_ENST00000544748.1_Missense_Mutation_p.C31W	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	103					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TCCTCACCTGTGAAAGCTGCA	0.393000													11	32					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31487345	31487345	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:31487345G>T	ENST00000333137.7	+	10	1554	c.1336G>T	c.(1336-1338)Gtg>Ttg	p.V446L	SMTN_ENST00000347557.2_Missense_Mutation_p.V446L|SMTN_ENST00000358743.1_Missense_Mutation_p.V446L	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	446					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCCGCTGCCCGTGGCCGTCGG	0.692000													9	12					0.000274275	0.000305154	1	1	0
CDCA8	55143	broad.mit.edu	37	1	38171195	38171195	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:38171195G>A	ENST00000373055.1	+	8	940	c.667G>A	c.(667-669)Gac>Aac	p.D223N	CDCA8_ENST00000327331.2_Missense_Mutation_p.D223N	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	223					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCTCTTGCTGACAGCAAAGA	0.537000													11	92					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446036	10446036	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:10446036C>A	ENST00000326756.3	-	3	2355	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATCCAGAGCTCAGAGAAAATA	0.403000													24	138					9.95505e-16	1.54499e-15	1	1	0
PIGY	84992	broad.mit.edu	37	4	89442932	89442932	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:89442932C>A	ENST00000527353.1	-	1	8	c.9G>T	c.(7-9)ctG>ctT	p.L3L	PYURF_ENST00000273968.4_3'UTR|HERC3_ENST00000601319.1_3'UTR			Q3MUY2	PIGY_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Y	3					GPI anchor biosynthetic process	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane|plasma membrane							Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TAGGAAGAGACAGAAACATTC	0.383000													7	22					8.12818e-05	9.27883e-05	1	1	0
NAALADL2	254827	broad.mit.edu	37	3	174814685	174814685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:174814685G>A	ENST00000454872.1	+	2	277	c.149G>A	c.(148-150)tGg>tAg	p.W50*	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	50					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GACTTAGAGTGGGACATGGAG	0.473000													6	26					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64514710	64514710	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:64514710G>T	ENST00000164139.3	-	18	2696	c.2298C>A	c.(2296-2298)ctC>ctA	p.L766L	PYGM_ENST00000377432.3_Silent_p.L678L	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	766					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CATGGTGCATGAGCATATTGA	0.602000													16	53					2.35188e-11	3.38429e-11	1	1	0
SMTN	6525	broad.mit.edu	37	22	31487249	31487249	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:31487249G>A	ENST00000333137.7	+	10	1458	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	SMTN_ENST00000347557.2_Missense_Mutation_p.E414K|SMTN_ENST00000358743.1_Missense_Mutation_p.E414K	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	414					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCCCCAGGAGGAGGGCCCCAG	0.697000													3	25					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419214	105419214	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:105419214C>G	ENST00000333244.5	-	7	2693	c.2574G>C	c.(2572-2574)gtG>gtC	p.V858V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	858						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCGCAGACACATCCACCG	0.602000													63	288					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777430	237777430	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:237777430G>T	ENST00000366574.2	+	37	5319	c.5002G>T	c.(5002-5004)Ggg>Tgg	p.G1668W	RYR2_ENST00000542537.1_Missense_Mutation_p.G1652W|RYR2_ENST00000360064.6_Missense_Mutation_p.G1666W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1668	4 X approximate repeats.				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)			CTGTGCTCTTGGGAACCACCG	0.522000													5	49					0.0215528	0.022248	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	42047784	42047784	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:42047784C>A	ENST00000372584.1	-	3	3699	c.2685G>T	c.(2683-2685)caG>caT	p.Q895H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.Q895H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.Q895H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.Q895H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	895	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGCTGGGAGCTGGGCAAGTG	0.612000													33	64					1.80694e-10	2.53324e-10	1	1	0
NT5E	4907	broad.mit.edu	37	6	86176988	86176988	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:86176988C>T	ENST00000257770.3	+	2	599	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F	NT5E_ENST00000369651.3_Missense_Mutation_p.L184F|NT5E_ENST00000369646.3_Missense_Mutation_p.L184F	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	184					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	AACCCCTTTTCTCTCAAATCC	0.358000													10	34					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119059326	119059326	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:119059326A>T	ENST00000296499.5	+	5	1745	c.1342A>T	c.(1342-1344)Agc>Tgc	p.S448C	NDST3_ENST00000433996.2_Missense_Mutation_p.S367C	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	448	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TAAAATCACCAGCACTGAAGA	0.488000													14	53					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10258269	10258269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:10258269C>A	ENST00000418404.3	-	9	1007	c.844G>T	c.(844-846)Gag>Tag	p.E282*	MYH13_ENST00000252172.4_Nonsense_Mutation_p.E282*|MYH13_ENST00000570743.1_Nonsense_Mutation_p.E282*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	282	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TAGCTTCTCTCACTGGATAAT	0.373000													7	16					0.000274275	0.000305154	1	1	0
YLPM1	56252	broad.mit.edu	37	14	75276401	75276401	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:75276401C>T	ENST00000325680.7	+	7	4964	c.4840C>T	c.(4840-4842)Cac>Tac	p.H1614Y	YLPM1_ENST00000552421.1_Missense_Mutation_p.H908Y|YLPM1_ENST00000238571.3_Missense_Mutation_p.H1419Y	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCCACCTGTTCACTCTTCCAT	0.502000													12	32					0	0	1	0	0
EGFL8	80864	broad.mit.edu	37	6	32134872	32134872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:32134872G>T	ENST00000395512.1	+	6	544	c.439G>T	c.(439-441)Gaa>Taa	p.E147*	EGFL8_ENST00000333845.6_Nonsense_Mutation_p.E147*|PPT2-EGFL8_ENST00000422437.1_Intron			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	147	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AGACGTGGATGAATGTAGGAC	0.587000													43	179					2.59497e-14	3.95723e-14	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61525342	61525342	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:61525342C>T	ENST00000266070.4	-	12	3102	c.2777G>A	c.(2776-2778)aGa>aAa	p.R926K	DIDO1_ENST00000395343.1_Missense_Mutation_p.R926K|DIDO1_ENST00000395335.2_Missense_Mutation_p.R926K|DIDO1_ENST00000395340.1_Missense_Mutation_p.R926K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	926					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAATACGTTCTGTCCACATT	0.622000													6	91					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49162828	49162828	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:49162828G>A	ENST00000418109.1	-	20	2742	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	LAMB2_ENST00000464891.1_5'UTR|LAMB2_ENST00000305544.4_Missense_Mutation_p.R860C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	860	Laminin EGF-like 7.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGTCACAGCGAAGCCCAAAG	0.607000													8	95					0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37331623	37331623	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:37331623C>T	ENST00000394303.3	-	14	1827	c.1620G>A	c.(1618-1620)acG>acA	p.T540T	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	540				GTP -> A (in Ref. 1; AAA35633 and 5; AAB58781).	axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGGCTGGGGGCGTGCCGCCCC	0.647000											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	232					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75174401	75174401	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:75174401C>A	ENST00000336926.6	-	26	2671	c.2645G>T	c.(2644-2646)gGa>gTa	p.G882V	HIP1_ENST00000434438.2_Missense_Mutation_p.G831V	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	882	I/LWEQ.|Important for actin binding (By similarity).				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GACAGTGGCTCCCCAGCCCAC	0.468000			T	PDGFRB	CMML								17	69					6.94344e-10	9.52892e-10	1	1	0
ANO2	57101	broad.mit.edu	37	12	5860069	5860069	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:5860069G>T	ENST00000356134.5	-	12	1185	c.1114C>A	c.(1114-1116)Cca>Aca	p.P372T	ANO2_ENST00000327087.8_Missense_Mutation_p.P371T|ANO2_ENST00000546188.1_Missense_Mutation_p.P372T	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	376						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACAGAAGATGGGATGAGGAAT	0.343000													10	16					3.86212e-05	4.47473e-05	1	1	0
VCPIP1	80124	broad.mit.edu	37	8	67579089	67579089	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:67579089C>A	ENST00000310421.4	-	1	363	c.105G>T	c.(103-105)ggG>ggT	p.G35G		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	35					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GCTTCAAAAGCCCCCCCGAAG	0.682000													3	23					0.115264	0.117064	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33604987	33604987	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:33604987C>T	ENST00000321505.4	+	10	3795	c.3615C>T	c.(3613-3615)tgC>tgT	p.C1205C	KIAA1549L_ENST00000389726.3_Silent_p.C1211C|KIAA1549L_ENST00000265654.5_Silent_p.C1211C					KIAA1549-like																		CCGTGCTCTGCAGGAAGAACA	0.557000													6	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179546399	179546399	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:179546399G>T	ENST00000589042.1	-	136	33385	c.33161C>A	c.(33160-33162)cCa>cAa	p.P11054Q	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9810Q|TTN_ENST00000591111.1_Missense_Mutation_p.P10737Q|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10737	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)			TTTAGCCGGTGGGGCCTTTGG	0.393000													12	55					2.27111e-07	2.87417e-07	1	1	0
RSG1	79363	broad.mit.edu	37	1	16559423	16559423	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:16559423C>G	ENST00000375599.3	-	3	774	c.355G>C	c.(355-357)Gag>Cag	p.E119Q		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	119	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AGTGCAGACTCTCCACAGTCC	0.562000													9	109					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139744082	139744082	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:139744082G>T	ENST00000230993.6	+	11	1630	c.1595G>T	c.(1594-1596)tGt>tTt	p.C532F	SLC4A9_ENST00000432095.2_Missense_Mutation_p.C497F|SLC4A9_ENST00000506757.2_Missense_Mutation_p.C508F|SLC4A9_ENST00000506545.1_Missense_Mutation_p.C508F|SLC4A9_ENST00000507527.1_Missense_Mutation_p.C532F	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	532	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTTTCTGTGCCCTCATC	0.567000													5	11					1.23904e-05	1.46677e-05	1	1	0
ZNF32	7580	broad.mit.edu	37	10	44140022	44140022	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:44140022T>A	ENST00000395797.1	-	3	486	c.298A>T	c.(298-300)Act>Tct	p.T100S	ZNF32_ENST00000374433.2_Missense_Mutation_p.T100S|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.T100A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTTTGACCAGTGTGGATTCTC	0.473000													20	82					0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41291039	41291039	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:41291039C>T	ENST00000301831.4	-	36	4167	c.3705G>A	c.(3703-3705)gaG>gaA	p.E1235E	ULK4_ENST00000489118.1_5'UTR|CTNNB1_ENST00000471014.1_Intron	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1235							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCTTGAGGCTCTCCAAGTGCT	0.602000													8	21					0	0	1	0	0
PHB	5245	broad.mit.edu	37	17	47486768	47486768	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:47486768G>A	ENST00000300408.3	-	4	390	c.318C>T	c.(316-318)atC>atT	p.I106I	RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Silent_p.I106I|PHB_ENST00000508009.1_5'UTR	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	prohibitin	106					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			TGCTGGTGAAGATGCGAGGAA	0.522000													5	81					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35606108	35606108	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:35606108G>T	ENST00000287272.2	+	11	1643	c.1623G>T	c.(1621-1623)atG>atT	p.M541I	UNC5D_ENST00000416672.1_Missense_Mutation_p.M615I|UNC5D_ENST00000420357.1_Missense_Mutation_p.M543I|UNC5D_ENST00000404895.2_Missense_Mutation_p.M610I|UNC5D_ENST00000449677.1_Missense_Mutation_p.M186I|UNC5D_ENST00000453357.2_Missense_Mutation_p.M605I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	610	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTCCAGACATGATCGTCACCA	0.483000													23	60					1.10923e-09	1.513e-09	1	1	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123964	26123964	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:26123964A>T	ENST00000314332.5	-	1	174	c.169T>A	c.(169-171)Tcc>Acc	p.S57T	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S57T			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	57					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						ATGGCCTTGGAAGAGATGCCA	0.537000													76	177					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32678889	32678889	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:32678889C>T	ENST00000421745.2	+	23	4766	c.4632C>T	c.(4630-4632)gtC>gtT	p.V1544V		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1544					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGGAAAGGTCAGTAGTTGCA	0.373000													10	128					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37890307	37890307	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:37890307G>T	ENST00000199447.4	+	5	540	c.168G>T	c.(166-168)ctG>ctT	p.L56L	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.L56L	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	56	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AAAATGAACTGAACGAAGACG	0.318000													23	83					3.7963e-18	6.11779e-18	1	1	0
PROKR2	128674	broad.mit.edu	37	20	5294626	5294626	+	Silent	SNP	G	G	A	rs144778137	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:5294626G>A	ENST00000546004.1	-	2	636	c.390C>T	c.(388-390)tcC>tcT	p.S130S	PROKR2_ENST00000217270.3_Silent_p.S130S			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	130						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						GGTAGTTGACGGAGGCACAGA	0.612000										HNSCC(71;0.22)			16	36					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609637	84609637	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:84609637G>C	ENST00000344803.2	+	4	4299	c.4252G>C	c.(4252-4254)Ggg>Cgg	p.G1418R		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AGAGAAGCTGGGGCATAGGCA	0.498000													3	31					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64064363	64064363	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:64064363C>A	ENST00000539216.1	+	2	563	c.203C>A	c.(202-204)gCc>gAc	p.A68D	KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000394525.2_Missense_Mutation_p.A68D|KCNK4_ENST00000538767.1_Missense_Mutation_p.P2T|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Missense_Mutation_p.A68D			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	68						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GTGGCTGATGCCCTGGGAGGG	0.612000													4	58					0.150653	0.152316	1	1	0
LRR1	122769	broad.mit.edu	37	14	50069182	50069182	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:50069182G>A	ENST00000298288.6	+	2	602	c.278G>A	c.(277-279)aGt>aAt	p.S93N	LRR1_ENST00000557531.1_Intron|LRR1_ENST00000318317.4_Missense_Mutation_p.S93N	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	93										kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATCTGTCTAAGTAAGGTATGG	0.368000													19	48					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10309366	10309366	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:10309366C>A	ENST00000403437.2	-	21	2518	c.2424G>T	c.(2422-2424)ttG>ttT	p.L808F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	808	IQ.				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						ACCTCCTTTGCAACATCTTCT	0.348000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				37	58					6.90743e-12	1.00617e-11	1	1	0
ITGAX	3687	broad.mit.edu	37	16	31371783	31371783	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:31371783G>T	ENST00000268296.4	+	8	981	c.861_splice	c.e8+1	p.G287_splice	ITGAX_ENST00000562522.1_Splice_Site_p.G287_splice	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	287	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TATGCAATTGGGGTAGGGCGT	0.522000													32	63					1.06801e-11	1.54678e-11	1	1	0
SELP	6403	broad.mit.edu	37	1	169562912	169562912	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:169562912C>A	ENST00000263686.6	-	14	2375	c.2338G>T	c.(2338-2340)Gct>Tct	p.A780S	SELP_ENST00000458599.2_Missense_Mutation_p.A596S|SELP_ENST00000367786.2_Missense_Mutation_p.A718S|SELP_ENST00000367794.2_Missense_Mutation_p.A718S|SELP_ENST00000367793.2_Missense_Mutation_p.A718S|SELP_ENST00000367788.2_Missense_Mutation_p.A718S|SELP_ENST00000367792.2_Missense_Mutation_p.A596S|SELP_ENST00000367791.2_Missense_Mutation_p.A594S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	780					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATCGTAGAAGCCACCGCTCCA	0.438000													11	58					0.000673444	0.000740274	1	1	0
ADD2	119	broad.mit.edu	37	2	70904014	70904014	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:70904014G>T	ENST00000264436.3	-	13	1951	c.1507C>A	c.(1507-1509)Cga>Aga	p.R503R	ADD2_ENST00000413157.2_Silent_p.R503R|ADD2_ENST00000355733.3_Silent_p.R503R|ADD2_ENST00000430656.1_Silent_p.R519R|ADD2_ENST00000407644.2_Silent_p.R503R	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	503					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTTTGTTCTCGAATCTGTGTG	0.592000													11	49					2.27111e-07	2.87417e-07	1	1	0
MOG	4340	broad.mit.edu	37	6	29627220	29627220	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:29627220C>A	ENST00000376894.4	+	2	331	c.213C>A	c.(211-213)ccC>ccA	p.P71P	MOG_ENST00000376891.4_Silent_p.P71P|MOG_ENST00000533330.2_Silent_p.P71P|MOG_ENST00000490427.1_Intron|MOG_ENST00000494692.1_Silent_p.P71P|MOG_ENST00000431798.2_Silent_p.P71P|MOG_ENST00000483013.1_Intron|MOG_ENST00000416766.2_Silent_p.P71P|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Silent_p.P71P|MOG_ENST00000376888.2_Intron|MOG_ENST00000376902.3_Silent_p.P71P|MOG_ENST00000376917.3_Silent_p.P71P|MOG_ENST00000376898.3_Silent_p.P71P|MOG_ENST00000396701.2_Silent_p.P71P			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	71	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGTACCGCCCCCCCTTCTCTA	0.567000													52	128					6.08268e-21	1.02019e-20	1	1	0
TTN	7273	broad.mit.edu	37	2	179505287	179505287	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:179505287C>A	ENST00000589042.1	-	221	40928	c.40704G>T	c.(40702-40704)aaG>aaT	p.K13568N	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K4628N|TTN_ENST00000342992.6_Missense_Mutation_p.K11000N|TTN_ENST00000591111.1_Missense_Mutation_p.K11927N|TTN_ENST00000460472.2_Missense_Mutation_p.K4503N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K4695N|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11927	Ig-like 92.						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)			GTTCAGGAATCTTCCTTTCCC	0.328000													6	85					0.217242	0.218543	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27480738	27480738	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:27480738C>A	ENST00000356183.4	-	32	4963	c.4948G>T	c.(4948-4950)Ggc>Tgc	p.G1650C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G1650C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1650						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GAGTAGTAGCCCCTCATCAGC	0.602000													22	31					8.10497e-08	1.05146e-07	1	1	0
SYPL2	284612	broad.mit.edu	37	1	110018286	110018286	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:110018286G>A	ENST00000369872.3	+	3	429	c.213G>A	c.(211-213)aaG>aaA	p.K71K	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Silent_p.K71K	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	71	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		ACGAAGCCAAGGACGTGAGCT	0.537000													12	54					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165771773	165771773	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:165771773G>T	ENST00000303735.4	-	7	795	c.465C>A	c.(463-465)tgC>tgA	p.C155*	SLC38A11_ENST00000409149.3_Nonsense_Mutation_p.C177*|SLC38A11_ENST00000409058.1_Nonsense_Mutation_p.C208*|SLC38A11_ENST00000493887.1_5'UTR|SLC38A11_ENST00000409662.1_Nonsense_Mutation_p.C177*	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	177					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						AGTTATGGTGGCAAATAAATG	0.343000													12	51					1.08611e-07	1.39732e-07	1	1	0
EXPH5	23086	broad.mit.edu	37	11	108381885	108381885	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:108381885C>T	ENST00000265843.4	-	6	4459	c.4349G>A	c.(4348-4350)aGt>aAt	p.S1450N	EXPH5_ENST00000428840.1_Missense_Mutation_p.S1374N|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1443N|EXPH5_ENST00000443411.1_Missense_Mutation_p.S1262N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1450					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)		GGCTCTACCACTCCCTGTACA	0.453000													10	69					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187088164	187088164	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:187088164C>A	ENST00000356371.5	+	12	2080	c.2080C>A	c.(2080-2082)Cct>Act	p.P694T	FAM149A_ENST00000227065.4_Missense_Mutation_p.P403T|FAM149A_ENST00000389354.5_Missense_Mutation_p.P403T|FAM149A_ENST00000502970.1_Missense_Mutation_p.P403T|FAM149A_ENST00000514153.1_Missense_Mutation_p.P403T|FAM149A_ENST00000503432.1_Missense_Mutation_p.P403T			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	694										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GAGTGCCATGCCTGACGGTAC	0.458000													21	31					5.26018e-13	7.82044e-13	1	1	0
ACCSL	390110	broad.mit.edu	37	11	44080198	44080198	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:44080198C>A	ENST00000378832.1	+	13	1629	c.1573C>A	c.(1573-1575)Cca>Aca	p.P525T		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	525							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GTGTAAGGAGCCAGGCTGGTT	0.498000													19	94					2.94398e-08	3.87407e-08	1	1	0
ZNF76	7629	broad.mit.edu	37	6	35261526	35261526	+	Splice_Site	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:35261526A>T	ENST00000373953.3	+	12	1595		c.e12-1		ZNF76_ENST00000339411.5_Intron|ZNF76_ENST00000440666.2_Splice_Site	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76						regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCCTGTTGGCAGGTCAGCCTG	0.582000													41	44					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46305861	46305861	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:46305861T>C	ENST00000359930.4	-	9	2062	c.1211A>G	c.(1210-1212)aAg>aGg	p.K404R	SULF2_ENST00000484875.1_Missense_Mutation_p.K404R|SULF2_ENST00000361612.4_Missense_Mutation_p.K404R|SULF2_ENST00000467815.1_Missense_Mutation_p.K404R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	404					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)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GACCCTCATCTTCTTTTTCAA	0.622000													12	92					0	0	1	0	0
C16orf92	146378	broad.mit.edu	37	16	30035054	30035054	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:30035054G>A	ENST00000300575.2	+	2	158	c.137G>A	c.(136-138)aGa>aAa	p.R46K		NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	46						integral to membrane				breast(3)|lung(3)	6						CTAGCACCCAGACCCAAGCGT	0.592000													6	46					0	0	1	0	0
RCN2	5955	broad.mit.edu	37	15	77241468	77241468	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:77241468G>A	ENST00000394885.3	+	7	1082	c.859G>A	c.(859-861)Gag>Aag	p.E287K	RCN2_ENST00000320963.5_Missense_Mutation_p.E305K|RCN2_ENST00000394883.3_Missense_Mutation_p.E186K	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	287	EF-hand 6.					endoplasmic reticulum lumen	calcium ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						CTCTGAAGAAGAGATTCTGGA	0.363000													29	117					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12382768	12382768	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:12382768G>C	ENST00000358136.3	+	34	8010	c.7880G>C	c.(7879-7881)aGa>aCa	p.R2627T	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2627T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2627					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAGGAAATCAGAGAAGGGACA	0.478000													6	45					0	0	1	0	0
DEFB110	245913	broad.mit.edu	37	6	49986718	49986718	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:49986718G>C	ENST00000371148.2	-	2	221	c.176C>G	c.(175-177)cCt>cGt	p.P59R	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	59					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATGAGTTCCAGGTCTTATGCA	0.413000													7	74					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68956724	68956724	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:68956724G>A	ENST00000288368.4	+	8	1119	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	281	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R281L(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATCTTAAGACGGTTGAAGAAC	0.388000													21	66					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189321	124189321	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:124189321A>G	ENST00000357438.2	-	1	863	c.773T>C	c.(772-774)aTg>aCg	p.M258T		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CTTGAAATACATGAATGTTAT	0.438000													20	130					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88764094	88764094	+	RNA	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:88764094G>A	ENST00000444431.1	+	0	2636				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TGACCTTGGAGATACATCATC	0.373000													9	201					0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186502264	186502264	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:186502264G>C	ENST00000323963.5	+	2	137	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	EIF4A2_ENST00000440191.2_Missense_Mutation_p.E26Q|EIF4A2_ENST00000356531.5_5'UTR			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	25					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.E25Q(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGGTGTCATCGAGGTAAGAAA	0.478000			T	BCL6	NHL								34	114					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154841868	154841868	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:154841868G>A	ENST00000271915.3	-	1	888	c.573C>T	c.(571-573)ctC>ctT	p.L191L		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	196						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGAGGCGCTGAGGCGGCTGA	0.662000													6	107					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869708	174869708	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:174869708T>A	ENST00000393752.2	-	2	1387	c.395A>T	c.(394-396)gAg>gTg	p.E132V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	132					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CATCTTTCTCTCATACCGGAA	0.537000													24	66					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104922381	104922381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:104922381G>A	ENST00000507740.1	+	3	1304	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000436393.2_Nonsense_Mutation_p.W326*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.W548*	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	615					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTACAACTGGTTGGATCATA	0.398000										HNSCC(12;0.0054)			26	78					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21813507	21813507	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:21813507G>A	ENST00000328843.6	+	57	9278	c.9247G>A	c.(9247-9249)Gaa>Aaa	p.E3083K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E3076K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3083	Stalk (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						GAGTTTTCTAGAACAAATATC	0.393000									Kartagener syndrome				5	10					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29647337	29647337	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:29647337G>T	ENST00000356870.3	+	27	3956	c.3846_splice	c.e27+1	p.W1282_splice	PTPRU_ENST00000460170.2_Splice_Site_p.W1282_splice|PTPRU_ENST00000373779.3_Splice_Site_p.W1276_splice|PTPRU_ENST00000345512.3_Splice_Site_p.W1286_splice|PTPRU_ENST00000323874.8_Splice_Site_p.W1282_splice|PTPRU_ENST00000428026.2_Splice_Site_p.W1273_splice	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1286	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACTCCGCCTGGGTGAGGCCTC	0.627000													8	49					0.000274275	0.000305154	1	1	0
FSHR	2492	broad.mit.edu	37	2	49190564	49190564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:49190564C>A	ENST00000406846.2	-	10	1515	c.1396G>T	c.(1396-1398)Gaa>Taa	p.E466*	FSHR_ENST00000304421.4_Nonsense_Mutation_p.E440*|FSHR_ENST00000541117.1_Nonsense_Mutation_p.E202*|FSHR_ENST00000346173.3_Nonsense_Mutation_p.E404*	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	466					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGCCATCTTTCCAAGGTGATA	0.532000									Gonadal Dysgenesis, 46 XX				18	29					0.006122	0.00647193	1	1	0
CNKSR1	10256	broad.mit.edu	37	1	26515956	26515956	+	Missense_Mutation	SNP	C	C	A	rs1045105	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:26515956C>A	ENST00000531191.1	+	20	2292	c.1285C>A	c.(1285-1287)Cac>Aac	p.H429N	CNKSR1_ENST00000374253.5_Missense_Mutation_p.H694N|CNKSR1_ENST00000361530.6_Missense_Mutation_p.H687N			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	694	PH.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.H687Y(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTCCCCCCACTCCCTGCC	0.637000													6	89					3.59834e-05	4.18836e-05	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13764766	13764766	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:13764766A>T	ENST00000279593.3	-	8	1882	c.1673T>A	c.(1672-1674)gTa>gAa	p.V558E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	558					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CATCACCCATACGTCAGCGCT	0.448000													15	135					0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4554566	4554566	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:4554566C>A	ENST00000228837.2	-	1	214	c.171G>T	c.(169-171)ctG>ctT	p.L57L		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	57					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			ACCTGGACAGCAGGGTGCCCC	0.642000													8	132					1.58986e-06	1.95437e-06	1	1	0
HLA-DMB	3109	broad.mit.edu	37	6	32905114	32905114	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:32905114C>A	ENST00000416244.2	-	3	651	c.457G>T	c.(457-459)Ggg>Tgg	p.G153W	HLA-DMB_ENST00000418107.2_Missense_Mutation_p.G153W			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	153	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						ACAAGCTTCCCGTTCTTCCTC	0.537000													27	106					9.86323e-18	1.58188e-17	1	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35514224	35514224	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:35514224G>T	ENST00000599564.1	+	18	2258	c.2187G>T	c.(2185-2187)tgG>tgT	p.W729C	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.W635C|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.W408C|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.W646C			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	646						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTGAGTCCTGGCACAGCCTGG	0.647000													56	257					3.21867e-24	5.49902e-24	1	1	0
LRP1	4035	broad.mit.edu	37	12	57570823	57570823	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:57570823G>T	ENST00000243077.3	+	25	4457		c.e25-1			NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTCTTCTCCAGCCCTGACTAG	0.567000													10	90					0.000442599	0.000489726	1	1	0
SERPINB4	6318	broad.mit.edu	37	18	61306546	61306546	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:61306546C>A	ENST00000341074.5	-	7	756	c.641G>T	c.(640-642)aGg>aTg	p.R214M	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ATTGTATTGCCTCATCATCTG	0.363000													20	36					4.96729e-08	6.46903e-08	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94043576	94043576	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:94043576C>T	ENST00000297268.6	+	29	2179	c.1708C>T	c.(1708-1710)Cca>Tca	p.P570S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	570					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGTTGGCAAACCAGGAGAAAG	0.413000										HNSCC(75;0.22)			10	27					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158623154	158623154	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:158623154C>T	ENST00000368148.3	-	22	3278	c.3098G>A	c.(3097-3099)aGa>aAa	p.R1033K	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1033K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1033	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)					GTGGGCCAGTCTTCTGACATA	0.547000													19	112					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319214	31319214	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:31319214G>C	ENST00000269197.5	+	11	1846	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	616	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTTTTCTTCTGAGAGCCCAGA	0.478000													5	15					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95457405	95457405	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:95457405G>T	ENST00000324972.6	+	5	595	c.402G>T	c.(400-402)caG>caT	p.Q134H	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.Q117H|DYNC1I1_ENST00000437599.1_Intron|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.Q117H|DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000537881.1_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	134					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)			CAGTGCTCCAGCTGCAGTCAG	0.448000													94	166					2.76863e-45	4.8961e-45	1	1	0
KIAA1958	158405	broad.mit.edu	37	9	115422298	115422298	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:115422298C>T	ENST00000337530.6	+	4	2396	c.2100C>T	c.(2098-2100)gtC>gtT	p.V700V	KIAA1958_ENST00000536272.1_Silent_p.V728V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	700										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TCACCTTTGTCTCGTTCACTC	0.607000													7	75					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37949246	37949246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:37949246C>T	ENST00000436072.2	-	5	1205	c.828G>A	c.(826-828)tgG>tgA	p.W276*	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	276	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCTGATCTCTCCATTTTTCAA	0.303000													7	121					0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167570985	167570985	+	Missense_Mutation	SNP	C	C	A	rs138139530	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:167570985C>A	ENST00000366834.1	-	1	832	c.335G>T	c.(334-336)cGg>cTg	p.R112L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	112						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ACGGAGGTACCGGTCCAAAGC	0.687000													4	28					0.00909568	0.00950591	1	1	0
ZBED2	79413	broad.mit.edu	37	3	111312502	111312502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:111312502C>A	ENST00000317012.4	-	2	1555	c.547G>T	c.(547-549)Gag>Tag	p.E183*	CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	183							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						CTTTCCACCTCCTCCAGGGCT	0.592000													12	90					5.50884e-06	6.63826e-06	1	1	0
SUMF1	285362	broad.mit.edu	37	3	4459700	4459700	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:4459700T>C	ENST00000272902.5	-	5	754	c.719A>G	c.(718-720)cAt>cGt	p.H240R	SUMF1_ENST00000383843.5_Missense_Mutation_p.H215R|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000534863.1_Missense_Mutation_p.H240R|SUMF1_ENST00000405420.2_Missense_Mutation_p.H240R	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	240						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		ATACCTATTATGCAGGCCTCC	0.463000													36	71					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406430	3406430	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:3406430C>G	ENST00000304936.2	+	1	542	c.490C>G	c.(490-492)Ctg>Gtg	p.L164V		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AACATTCACTCTGCAGCTCCC	0.602000													7	127					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3424437	3424437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:3424437G>A	ENST00000356575.4	-	14	1937	c.1711C>T	c.(1711-1713)Cag>Tag	p.Q571*	MEGF6_ENST00000294599.4_Nonsense_Mutation_p.Q466*	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	571	EGF-like 10.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CCACCATTCTGACAGCTGCAG	0.602000													11	66					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61068701	61068701	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:61068701A>G	ENST00000196169.3	+	8	1359	c.571A>G	c.(571-573)Aga>Gga	p.R191G	TDRD3_ENST00000377881.2_Missense_Mutation_p.R191G|TDRD3_ENST00000535286.1_Missense_Mutation_p.R284G|TDRD3_ENST00000377894.2_Missense_Mutation_p.R191G	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	191					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AGGTGTCTATAGAGAACTGGT	0.343000													4	62					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3962561	3962561	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:3962561C>G	ENST00000381638.2	-	31	5031	c.4907G>C	c.(4906-4908)tGt>tCt	p.C1636S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1636							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATCAGCACCACAGCCTTCCAG	0.343000													16	32					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515378	51515378	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:51515378T>A	ENST00000328188.1	+	1	97	c.97T>A	c.(97-99)Tat>Aat	p.Y33N		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTTTGTCATCTATATCATCAC	0.438000													43	140					0	0	1	0	0
DPEP1	1800	broad.mit.edu	37	16	89696855	89696855	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:89696855G>T	ENST00000393092.3	+	2	328	c.37G>T	c.(37-39)Gtc>Ttc	p.V13F	DPEP1_ENST00000261615.4_Missense_Mutation_p.V13F|DPEP1_ENST00000421184.1_Missense_Mutation_p.V13F	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	13					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CCTTGTGGCCGTCTGCACTGC	0.637000													12	63					2.27111e-07	2.87417e-07	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581900	84581900	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:84581900T>G	ENST00000286744.5	+	16	1981	c.1757T>G	c.(1756-1758)gTc>gGc	p.V586G	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V586G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	586	TSP type-1 4.					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)			GGTGTGCAGGTCCGTGAGGTG	0.602000													16	74					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30890106	30890106	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:30890106C>T	ENST00000265299.6	+	10	1559	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	494										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGACCCGCTGCCTCGTCCTGG	0.602000													3	19					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033558	110033558	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:110033558C>A	ENST00000369870.3	+	10	1388	c.1373C>A	c.(1372-1374)gCa>gAa	p.A458E		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	458										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCCACCGGCAGCTGAACCT	0.582000											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	127					5.03518e-11	7.18396e-11	1	1	0
VHL	7428	broad.mit.edu	37	3	10188229	10188229	+	Silent	SNP	A	A	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:10188229A>C	ENST00000256474.2	+	2	1212	c.372A>C	c.(370-372)acA>acC	p.T124T	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	124	Involved in binding to CCT complex.				anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.H125fs*27(1)|p.R120fs*34(1)|p.H125fs*34(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATGCAGGGACACACGATGGGC	0.502000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				40	73					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190068079	190068079	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:190068079C>A	ENST00000367462.3	-	8	1601	c.1370G>T	c.(1369-1371)cGc>cTc	p.R457L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R355L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		457						extracellular region				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)					GCAGCGGGTGCGGTTGTCTGG	0.617000													6	102					3.59834e-05	4.18836e-05	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129674473	129674473	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:129674473G>T	ENST00000421865.2	+	32	4737	c.4688G>T	c.(4687-4689)tGg>tTg	p.W1563L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1563	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCAAGCACTGGCATGCACGC	0.537000													27	38					3.73148e-12	5.46308e-12	1	1	0
PISD	23761	broad.mit.edu	37	22	32044214	32044214	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:32044214C>G	ENST00000439502.2	-	3	417	c.194G>C	c.(193-195)cGt>cCt	p.R65P	PISD_ENST00000336566.4_Missense_Mutation_p.R65P			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	65					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GGGCAGGGGACGCAGCAGGAA	0.527000													7	14					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458452	142458452	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:142458452C>T	ENST00000486171.1	+	2	104	c.87C>T	c.(85-87)aaC>aaT	p.N29N	PRSS1_ENST00000311737.7_Silent_p.N29N			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	29	Peptidase S1.		N -> I (in PCTT).|N -> T (in PCTT).		digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.N29K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGGGCTACAACTGTGAGGAGA	0.542000													34	183					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81627215	81627215	+	Missense_Mutation	SNP	G	G	A	rs145641313	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:81627215G>A	ENST00000548058.1	+	13	2594	c.1684G>A	c.(1684-1686)Gca>Aca	p.A562T	ACSS3_ENST00000548324.1_Missense_Mutation_p.A244T|ACSS3_ENST00000261206.3_Missense_Mutation_p.A561T			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	562						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AATAAATGTTGCAGGTCACAG	0.393000													40	89					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33596253	33596253	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:33596253G>T	ENST00000321505.4	+	9	3525	c.3345G>T	c.(3343-3345)gtG>gtT	p.V1115V	KIAA1549L_ENST00000389726.3_Silent_p.V1121V|KIAA1549L_ENST00000265654.5_Silent_p.V1121V					KIAA1549-like																		GAAAGATGGTGAAGATGCAGC	0.557000													11	87					1.58986e-06	1.95437e-06	1	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16877392	16877392	+	Silent	SNP	C	C	A	rs145257579	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:16877392C>A	ENST00000355661.3	-	5	385	c.375G>T	c.(373-375)acG>acT	p.T125T	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.T125T|PLEKHA7_ENST00000531066.1_Silent_p.T125T			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	125					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGGTCCCAGCCGTGGATGTTT	0.542000													17	146					1.15919e-05	1.37953e-05	1	1	0
FREM2	341640	broad.mit.edu	37	13	39262316	39262316	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:39262316T>A	ENST00000280481.7	+	1	1051	c.835T>A	c.(835-837)Tgg>Agg	p.W279R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	279					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAACAGGGACTGGATACCCAT	0.622000													5	82					0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40344282	40344282	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:40344282G>C	ENST00000301671.8	-	4	1307	c.866C>G	c.(865-867)tCt>tGt	p.S289C	GHDC_ENST00000593209.1_Missense_Mutation_p.S289C|GHDC_ENST00000428494.2_Missense_Mutation_p.S250C|GHDC_ENST00000587427.1_Missense_Mutation_p.S289C|GHDC_ENST00000436923.2_Missense_Mutation_p.S289C|GHDC_ENST00000414034.3_Missense_Mutation_p.S289C			Q8N2G8	GHDC_HUMAN	GH3 domain containing	289						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		ATAAGCAGGAGAGAAGAAGGC	0.622000													15	188					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657913	46657913	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:46657913C>A	ENST00000253255.5	-	1	1306	c.1307G>T	c.(1306-1308)cGg>cTg	p.R436L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	436	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGAGTCCTTCCGAATCACCAT	0.488000													7	111					0.00198382	0.00212846	1	1	0
ASTN1	460	broad.mit.edu	37	1	176915100	176915100	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:176915100C>G	ENST00000367654.2	-	13	2248	c.2235G>C	c.(2233-2235)aaG>aaC	p.K745N	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.K737N|ASTN1_ENST00000361833.2_Missense_Mutation_p.K737N|ASTN1_ENST00000367657.3_Missense_Mutation_p.K737N			O14525	ASTN1_HUMAN	astrotactin 1	745					cell migration|neuron cell-cell adhesion	integral to membrane		p.K737K(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGCCACTTCCTTGGAATGGT	0.473000													8	166					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107048035	107048035	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:107048035G>T	ENST00000392842.1	+	4	635	c.221G>T	c.(220-222)gGg>gTg	p.G74V	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.G83V	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	74					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATTGCAGAGGGGGTCTGCATC	0.478000													11	51					3.86212e-05	4.47473e-05	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40743857	40743857	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:40743857G>A	ENST00000373198.3	-	23	3382	c.3147C>T	c.(3145-3147)cgC>cgT	p.R1049R	PTPRT_ENST00000356100.2_Silent_p.R1036R|PTPRT_ENST00000373201.1_Silent_p.R1017R|PTPRT_ENST00000373184.1_Silent_p.R1037R|PTPRT_ENST00000373190.1_Silent_p.R1026R|PTPRT_ENST00000373187.1_Silent_p.R1027R|PTPRT_ENST00000373193.3_Silent_p.R1030R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1027	Tyrosine-protein phosphatase 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)				CTGTGAAGGTGCGTATGACGT	0.517000													34	67					0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27604592	27604592	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:27604592G>C	ENST00000344034.4	-	10	1779	c.1515C>G	c.(1513-1515)ttC>ttG	p.F505L	PPM1G_ENST00000350803.4_Missense_Mutation_p.F505L	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	505					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TTCGGGGCTTGAAGCAAATGA	0.537000													11	78					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61988157	61988157	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:61988157T>A	ENST00000392824.4	-	2	199	c.138A>T	c.(136-138)gcA>gcT	p.A46A	CSHL1_ENST00000309894.5_Silent_p.A46A|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	46						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CCAGCTGGTGTGCGCGATGGG	0.577000													21	163					0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53941579	53941579	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:53941579C>A	ENST00000263634.3	-	7	1056	c.922G>T	c.(922-924)Gcc>Tcc	p.A308S	GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.A235S|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.A346S|ASB3_ENST00000406625.2_Missense_Mutation_p.A343S|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.A235S|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000498475.2_5'UTR	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		343					intracellular signal transduction			p.A308S(1)									CACGCCTGGGCGTCTGGGCTG	0.423000													21	89					1.10923e-09	1.513e-09	1	1	0
ELOVL2	54898	broad.mit.edu	37	6	10984103	10984103	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:10984103C>G	ENST00000354666.3	-	8	885	c.802G>C	c.(802-804)Gag>Cag	p.E268Q		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	268					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GCAGGTGGCTCTTGCATATCT	0.348000													5	98					0	0	1	0	0
CBWD1	55871	broad.mit.edu	37	9	172139	172139	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:172139C>A	ENST00000377447.3	-	4	427	c.372G>T	c.(370-372)atG>atT	p.M124I	CBWD1_ENST00000314367.10_Missense_Mutation_p.M88I|CBWD1_ENST00000382447.4_Missense_Mutation_p.M124I|CBWD1_ENST00000431099.2_Missense_Mutation_p.M88I|CBWD1_ENST00000356521.4_Missense_Mutation_p.M124I|CBWD1_ENST00000377400.4_Missense_Mutation_p.M124I|CBWD1_ENST00000382393.1_3'UTR			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	124							ATP binding|protein binding			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCTTCTTTTGCATCAAATTCT	0.333000													10	226					1.33987e-11	1.93911e-11	1	1	0
RYR2	6262	broad.mit.edu	37	1	237801691	237801691	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:237801691G>A	ENST00000366574.2	+	45	7144	c.6827G>A	c.(6826-6828)aGt>aAt	p.S2276N	RYR2_ENST00000542537.1_Missense_Mutation_p.S2260N|RYR2_ENST00000360064.6_Missense_Mutation_p.S2274N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2276	4 X approximate repeats.				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)			GGACTGCAAAGTTGCCAGATG	0.418000													10	159					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3405632	3405632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:3405632G>T	ENST00000324266.5	+	3	1327	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*	TRAPPC12_ENST00000382110.2_Nonsense_Mutation_p.E378*	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	378							binding										CGACTCAGTGGAACAATCTTT	0.403000													53	152					9.55421e-19	1.55333e-18	1	1	0
RREB1	6239	broad.mit.edu	37	6	7230732	7230732	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:7230732G>T	ENST00000379938.2	+	10	2937	c.2400G>T	c.(2398-2400)gcG>gcT	p.A800A	RREB1_ENST00000349384.6_Silent_p.A800A|RREB1_ENST00000334984.6_Silent_p.A800A|RREB1_ENST00000379933.3_Silent_p.A800A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	800					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)				CCGCGTTCGCGGCCAAGCGCA	0.711000													4	19					0.00909568	0.00950591	1	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35512753	35512753	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:35512753G>T	ENST00000599564.1	+	16	2070	c.1999G>T	c.(1999-2001)Ggc>Tgc	p.G667C	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.G573C|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.G346C|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.G580C			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	580						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCCCGGGCCGGCATTCACAC	0.711000													4	41					0.00024832	0.000277964	1	1	0
FCRL3	115352	broad.mit.edu	37	1	157668288	157668288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:157668288C>A	ENST00000368184.3	-	4	475	c.184G>T	c.(184-186)Gag>Tag	p.E62*	FCRL3_ENST00000368186.5_Nonsense_Mutation_p.E62*	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	62	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AACAACTTCTCATCGTGATAC	0.453000													35	119					2.68265e-12	3.94615e-12	1	1	0
B3GNT7	93010	broad.mit.edu	37	2	232262715	232262715	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:232262715G>C	ENST00000287590.5	+	2	546	c.285G>C	c.(283-285)ttG>ttC	p.L95F	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	95					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		ATATCAACTTGACCCACCAGC	0.622000													5	94					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139144989	139144989	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:139144989G>A	ENST00000395297.1	-	20	4238	c.4068C>T	c.(4066-4068)gcC>gcT	p.A1356A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1356										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGCAGTCCTTGGCTTCAACCA	0.537000										HNSCC(54;0.14)			17	290					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777523	237777523	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:237777523C>A	ENST00000366574.2	+	37	5412	c.5095C>A	c.(5095-5097)Cgt>Agt	p.R1699S	RYR2_ENST00000542537.1_Missense_Mutation_p.R1683S|RYR2_ENST00000360064.6_Missense_Mutation_p.R1697S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1699	4 X approximate repeats.				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)			TGGTTTGCTGCGTGCTGGCTA	0.547000													22	27					3.62473e-10	5.02576e-10	1	1	0
MPO	4353	broad.mit.edu	37	17	56358093	56358093	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:56358093G>A	ENST00000340482.3	-	1	203	c.27C>T	c.(25-27)ctC>ctT	p.L9L	MPO_ENST00000225275.3_Silent_p.L9L			P05164	PERM_HUMAN	myeloperoxidase	9					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCATGCATCTGAGAGAAGAGA	0.582000													5	42					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055456	167055456	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:167055456C>A	ENST00000375387.4	-	27	6036	c.5696G>T	c.(5695-5697)cGt>cTt	p.R1899L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1898L|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1899L|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1887L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1898	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTATAAGCACGCTGAATGAC	0.368000													30	93					9.39395e-14	1.41647e-13	1	1	0
METTL8	79828	broad.mit.edu	37	2	172195976	172195976	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:172195976C>T	ENST00000375258.3	-	4	539	c.324G>A	c.(322-324)ttG>ttA	p.L108L				B3KW44	B3KW44_HUMAN	methyltransferase like 8	108							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						GAAATTCCCTCAACAGCCAAT	0.343000													14	90					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84559354	84559354	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:84559354A>G	ENST00000262753.4	-	14	1706	c.1561T>C	c.(1561-1563)Tca>Cca	p.S521P	POF1B_ENST00000373145.3_Missense_Mutation_p.S521P	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	521							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TATACCTCTGACTGACGCTTT	0.403000													14	36					0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40432832	40432832	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:40432832G>T	ENST00000372809.5	+	9	1184	c.1041G>T	c.(1039-1041)ctG>ctT	p.L347L	MFSD2A_ENST00000420632.2_Silent_p.L178L|MFSD2A_ENST00000372811.5_Silent_p.L334L|MFSD2A_ENST00000480630.1_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	347					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ATCTACTCCTGGCCATCATGG	0.552000													14	45					1.3612e-06	1.68046e-06	1	1	0
PRDM4	11108	broad.mit.edu	37	12	108145600	108145600	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:108145600C>T	ENST00000228437.5	-	5	1177	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	240					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTGTTGCTCACAGAATCCACA	0.532000													9	53					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52322097	52322097	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:52322097G>T	ENST00000356297.4	-	17	2187	c.2087C>A	c.(2086-2088)tCc>tAc	p.S696Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.S696Y	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	696					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)				GGAGCGCGGGGACACCAAGTC	0.612000													5	46					0.00116845	0.00126781	1	1	0
UGT3A2	167127	broad.mit.edu	37	5	36037942	36037942	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:36037942C>T	ENST00000282507.3	-	6	1353	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	UGT3A2_ENST00000513300.1_Missense_Mutation_p.E384K|UGT3A2_ENST00000545528.1_Missense_Mutation_p.E116K	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	418						integral to membrane	glucuronosyltransferase activity	p.E418*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAATGTCTCTGCCTTGAGC	0.443000													12	310					0	0	1	0	0
FOLR2	2350	broad.mit.edu	37	11	71932569	71932569	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:71932569C>A	ENST00000298223.6	+	5	718	c.531C>A	c.(529-531)ccC>ccA	p.P177P	FOLR2_ENST00000449475.2_Intron|FOLR2_ENST00000454954.2_Silent_p.P136P	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	177					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	CCTACTTCCCCACTCCAGCTG	0.587000													24	133					5.35356e-11	7.61126e-11	1	1	0
TPCN1	53373	broad.mit.edu	37	12	113706664	113706664	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:113706664G>A	ENST00000550785.1	+	7	1031	c.862G>A	c.(862-864)Ggt>Agt	p.G288S	TPCN1_ENST00000392569.4_Missense_Mutation_p.G148S|TPCN1_ENST00000541517.1_Missense_Mutation_p.G288S|TPCN1_ENST00000335509.6_Missense_Mutation_p.G216S	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	216						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCGGTATTGCGGTGGCGTCCG	0.627000													4	27					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535765	27535765	+	RNA	SNP	G	G	A	rs144116117	by1000genomes	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:27535765G>A	ENST00000574842.1	+	0	255																											TTTTGGGCTCGGGGGACAGGT	0.493000													8	198					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536898	5536898	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:5536898C>A	ENST00000380184.1	-	1	1037	c.774G>T	c.(772-774)ctG>ctT	p.L258L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	258										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCTCTAAGCCCAGATATGGCT	0.463000													28	74					4.59853e-10	6.3454e-10	1	1	0
SNX19	399979	broad.mit.edu	37	11	130785619	130785619	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:130785619C>A	ENST00000265909.4	-	1	785	c.216G>T	c.(214-216)gtG>gtT	p.V72V	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Silent_p.V72V	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	72					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GACCTGAAGCCACTCCAGCGA	0.602000													9	45					2.17888e-05	2.56129e-05	1	1	0
NANOG	79923	broad.mit.edu	37	12	7947055	7947055	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:7947055G>A	ENST00000229307.4	+	3	636	c.417G>A	c.(415-417)gtG>gtA	p.V139V	NANOG_ENST00000526286.1_Silent_p.V139V	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	139					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TCCTGCAGGTGAAGACCTGGT	0.388000													4	22					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115385834	115385834	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:115385834G>C	ENST00000369358.4	-	21	2484	c.2240C>G	c.(2239-2241)gCc>gGc	p.A747G	NRAP_ENST00000360478.3_Missense_Mutation_p.A704G|NRAP_ENST00000369360.3_Missense_Mutation_p.A712G|NRAP_ENST00000359988.3_Missense_Mutation_p.A739G			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	739						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.A739G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCTCTTCTTGGCGTGCTCCAT	0.597000													5	3					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64463803	64463803	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:64463803G>C	ENST00000358025.3	+	24	3309	c.3079G>C	c.(3079-3081)Gaa>Caa	p.E1027Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.E1027Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E1027Q	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1027					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAAAAGATAGAAAGACTTCT	0.448000													6	38					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46222876	46222876	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:46222876G>T	ENST00000336378.4	+	2	133	c.15G>T	c.(13-15)acG>acT	p.T5T	FAM21C_ENST00000374362.2_Silent_p.T5T|FAM21C_ENST00000540872.1_Silent_p.T5T|FAM21C_ENST00000537517.1_Silent_p.T5T|FAM21C_ENST00000359860.4_Silent_p.T4T	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	5										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGAACCGGACGACCCCCGACC	0.726000													4	17					0.00024832	0.000277964	1	1	0
C1orf50	79078	broad.mit.edu	37	1	43241036	43241036	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:43241036G>A	ENST00000372525.5	+	5	614	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	191										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCGTGCACTGAACCCAACTT	0.537000													3	31					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744028	135744028	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:135744028G>A	ENST00000375845.3	-	7	2444	c.2414C>T	c.(2413-2415)tCa>tTa	p.S805L	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S692L|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S822L	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GGATAAATCTGAGACAGGAGG	0.398000													10	104					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22255610	22255610	+	Splice_Site	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:22255610G>C	ENST00000594947.1	+	2	147		c.e2-1		ZNF257_ENST00000600162.1_Splice_Site	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTGTTTTTCAGGGACCACTGA	0.418000													35	58					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93714902	93714902	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:93714902C>A	ENST00000334746.5	-	9	2348	c.2041G>T	c.(2041-2043)Ggc>Tgc	p.G681C	BTBD7_ENST00000393170.2_Missense_Mutation_p.G255C|BTBD7_ENST00000554565.1_Missense_Mutation_p.G330C	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	681										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACAGTGGCGCCTTCCCCGCAG	0.517000													9	29					2.17888e-05	2.56129e-05	1	1	0
DPP10	57628	broad.mit.edu	37	2	116599810	116599810	+	Missense_Mutation	SNP	C	C	A	rs146932611	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:116599810C>A	ENST00000410059.1	+	26	2760	c.2280C>A	c.(2278-2280)aaC>aaA	p.N760K	DPP10_ENST00000310323.8_Missense_Mutation_p.N753K|DPP10_ENST00000393147.2_Missense_Mutation_p.N764K|DPP10_ENST00000409163.1_Missense_Mutation_p.N710K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	760					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAGGTCATAACGTATCTGAGA	0.388000													10	37					2.17888e-05	2.56129e-05	1	1	0
IGKV1-33	28933	broad.mit.edu	37	2	89568177	89568177	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:89568177C>A	ENST00000473726.1	-	0	86																											TCCTTCCTTACCTGAGAGCCA	0.517000													11	71					0.0332995	0.0341986	1	1	0
PDLIM7	9260	broad.mit.edu	37	5	176919548	176919548	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:176919548C>A	ENST00000355841.2	-	3	293	c.227G>T	c.(226-228)cGc>cTc	p.R76L	PDLIM7_ENST00000355572.2_Missense_Mutation_p.R76L|PDLIM7_ENST00000359895.2_Missense_Mutation_p.R76L|PDLIM7_ENST00000356618.4_Missense_Mutation_p.R76L|PDLIM7_ENST00000393551.1_Missense_Mutation_p.R76L	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	76	PDZ.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			CAGGCTGAGGCGCTCCCCGCA	0.677000													8	23					0.00307968	0.00328673	1	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458054	45458054	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:45458054G>T	ENST00000548424.1	+	0	448																											CAACAATGCGGGGGATCATTG	0.488000													16	38					2.31682e-05	2.71395e-05	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56424579	56424579	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:56424579C>A	ENST00000588751.1	-	5	628	c.604G>T	c.(604-606)Gta>Tta	p.V202L	NLRP13_ENST00000342929.3_Missense_Mutation_p.V202L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	202							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGGATATATACGTGGTCTTTA	0.498000													15	136					2.62699e-14	4.00303e-14	1	1	0
PASD1	139135	broad.mit.edu	37	X	150773180	150773180	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:150773180G>C	ENST00000370357.4	+	3	336	c.91G>C	c.(91-93)Gat>Cat	p.D31H		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	31	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTACCTATGATTACTTCAA	0.343000													7	13					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2024386	2024386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:2024386G>T	ENST00000568546.1	+	4	327	c.199G>T	c.(199-201)Gag>Tag	p.E67*		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	67					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GGAGGACCAGGAGGACATCAC	0.657000													44	222					4.49093e-37	7.8728e-37	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30747680	30747680	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:30747680C>T	ENST00000262518.4	+	32	7274	c.6889C>T	c.(6889-6891)Cgg>Tgg	p.R2297W	SRCAP_ENST00000395059.2_Missense_Mutation_p.R2235W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2139W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2297	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.R2297R(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGAGATGTCCCGGGCTGAGCA	0.557000													19	37					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396322	22396322	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:22396322C>T	ENST00000263160.3	+	9	1500	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	355					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATCTGCTGTGCCACACTTAGT	0.368000													11	189					0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115805007	115805007	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:115805007C>T	ENST00000369295.2	+	1	1202	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	372					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	ACTCGGCCTTCAACCCCATCA	0.677000													5	26					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583880	88583880	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:88583880C>T	ENST00000339673.6	+	6	1049	c.950C>T	c.(949-951)tCt>tTt	p.S317F	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.S301F|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	317					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AAGGGTGACTCTCAAGAAGAC	0.512000													5	84					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974451	49974451	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:49974451C>T	ENST00000555099.1	+	1	509	c.477C>T	c.(475-477)ctC>ctT	p.L159L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	159					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						TACAGATCCTCTTCATCTGTC	0.448000													45	118					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345028	5345028	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:5345028C>A	ENST00000328813.2	-	1	554	c.500G>T	c.(499-501)tGc>tTc	p.C167F	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGAGATTTGCAATATGAAAA	0.398000													5	79					0.014758	0.0152889	1	1	0
ALS2	57679	broad.mit.edu	37	2	202588165	202588165	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:202588165C>A	ENST00000264276.6	-	22	3885		c.e22-1		ALS2_ENST00000457679.2_Splice_Site	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)						cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTTTTCCCCCCTGCACAGAAA	0.423000													17	72					4.7546e-09	6.37743e-09	1	1	0
MTOR	2475	broad.mit.edu	37	1	11181321	11181321	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:11181321C>T	ENST00000361445.4	-	49	6991	c.6915G>A	c.(6913-6915)ctG>ctA	p.L2305L	MTOR_ENST00000376838.1_Silent_p.L510L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2305	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGGGGCTTTTCAGCCACAGCA	0.587000													6	43					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56077074	56077074	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:56077074C>A	ENST00000373965.2	-	8	1227	c.833G>T	c.(832-834)cGt>cTt	p.R278L	PCDH15_ENST00000373955.1_Missense_Mutation_p.R278L|PCDH15_ENST00000320301.6_Missense_Mutation_p.R278L|PCDH15_ENST00000437009.1_Missense_Mutation_p.R278L|PCDH15_ENST00000414778.1_Missense_Mutation_p.R283L|PCDH15_ENST00000395433.1_Missense_Mutation_p.R256L|PCDH15_ENST00000395432.2_Missense_Mutation_p.R241L|PCDH15_ENST00000361849.3_Missense_Mutation_p.R278L|PCDH15_ENST00000395440.1_Missense_Mutation_p.R278L|PCDH15_ENST00000395446.1_Missense_Mutation_p.R278L|PCDH15_ENST00000395438.1_Missense_Mutation_p.R278L|PCDH15_ENST00000395445.1_Missense_Mutation_p.R278L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.R278L|PCDH15_ENST00000373957.3_Missense_Mutation_p.R256L|PCDH15_ENST00000395430.1_Missense_Mutation_p.R278L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	278	Cadherin 3.				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)				AGTGAGTGGACGGCAATCACG	0.448000										HNSCC(58;0.16)			8	93					0.000274275	0.000305154	1	1	0
TNN	63923	broad.mit.edu	37	1	175087826	175087826	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:175087826G>T	ENST00000239462.4	+	11	2629	c.2516G>T	c.(2515-2517)aGg>aTg	p.R839M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	839	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				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)		GGAGAGACCAGGGAGGTTCCA	0.622000													10	117					2.17888e-05	2.56129e-05	1	1	0
NBPF22P	285622	broad.mit.edu	37	5	85578559	85578559	+	RNA	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:85578559T>C	ENST00000590707.1	+	0	282					NR_003719.2																						TCCCTGGCTCTACCTCTTCTG	0.468000													16	42					0	0	1	0	0
EIF1B	10289	broad.mit.edu	37	3	40352406	40352406	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:40352406G>C	ENST00000232905.3	+	2	312	c.54G>C	c.(52-54)aaG>aaC	p.K18N		NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	18					regulation of translational initiation		protein binding|translation initiation factor activity			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ATGCAACTAAGGGTGACGACT	0.388000													23	24					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50139925	50139925	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:50139925G>A	ENST00000371564.3	-	2	1074	c.855C>T	c.(853-855)ccC>ccT	p.P285P	NFATC2_ENST00000396009.3_Silent_p.P285P|NFATC2_ENST00000414705.1_Silent_p.P265P	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	285	3 X approximate SP repeats.				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)					CGTGGTCCTGGGGTGCCACGT	0.711000													14	23					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38323248	38323248	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:38323248C>T	ENST00000373036.4	-	2	223	c.83G>A	c.(82-84)aGg>aAg	p.R28K	MTF1_ENST00000468190.1_5'UTR	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	28						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATCCACAAACCTGAGCATTTT	0.478000													15	77					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95484575	95484575	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:95484575G>T	ENST00000432432.2	-	0	1359					NR_040113.1																						TCTTTGTTGGGTTAATCTGCC	0.343000													27	64					2.48779e-11	3.57476e-11	1	1	0
THAP4	51078	broad.mit.edu	37	2	242572659	242572659	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:242572659C>G	ENST00000407315.1	-	2	1344	c.913G>C	c.(913-915)Gcc>Ccc	p.A305P		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	305							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GTGACGTCGGCAGGAGGGGCA	0.677000													29	59					0	0	1	0	0
EPN2	22905	broad.mit.edu	37	17	19186861	19186861	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:19186861G>T	ENST00000314728.5	+	3	913	c.429G>T	c.(427-429)gaG>gaT	p.E143D	EPN2_ENST00000395618.3_Intron|EPN2_ENST00000571254.1_Missense_Mutation_p.E143D|EPN2_ENST00000395626.1_Missense_Mutation_p.E143D|EPN2_ENST00000395620.2_Missense_Mutation_p.E143D|EPN2_ENST00000347697.2_Missense_Mutation_p.E143D|EPN2_ENST00000575595.1_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	143	ENTH.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TGAAGGCTGAGAGGGCCCAGG	0.582000													20	36					5.03518e-11	7.18396e-11	1	1	0
RHBDL1	9028	broad.mit.edu	37	16	726420	726420	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:726420G>A	ENST00000219551.2	+	1	346	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	RHBDL1_ENST00000352681.3_Missense_Mutation_p.A42T			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	107					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CCTGGACCCGGCCAAGCTGGA	0.667000													3	23					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	346877	346877	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:346877G>A	ENST00000400256.3	-	5	952	c.745C>T	c.(745-747)Ctt>Ttt	p.L249F		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	249					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	p.L249I(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGGCTTGAAGAAAAACCTGC	0.517000													6	132					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46659556	46659556	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:46659556A>T	ENST00000544460.1	+	1	3945	c.3691A>T	c.(3691-3693)Aca>Tca	p.T1231S	TDRD6_ENST00000316081.6_Missense_Mutation_p.T1231S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1231					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ACAAAGTTTAACAAAAACAAA	0.308000													13	81					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159519885	159519885	+	Silent	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:159519885A>T	ENST00000389757.3	+	15	2630	c.2505A>T	c.(2503-2505)gcA>gcT	p.A835A	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.A835A|PKP4_ENST00000495123.1_3'UTR	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	835					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CTCTTCTAGCAGAAAGTTCCA	0.527000										HNSCC(62;0.18)			13	48					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8638827	8638827	+	Missense_Mutation	SNP	C	C	G	rs141192837		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:8638827C>G	ENST00000293845.3	-	5	821	c.595G>C	c.(595-597)Gcc>Ccc	p.A199P	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	199				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CGGGCCTTGGCGCGCTCAATC	0.592000													23	37					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580977	140580977	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140580977G>A	ENST00000354757.3	+	1	1630	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	PCDHB11_ENST00000536699.1_Missense_Mutation_p.E179K	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		544	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAGCAGCGAGGCGCTGGT	0.701000													11	84					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141313777	141313777	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:141313777G>T	ENST00000325617.5	-	12	1894	c.1454C>A	c.(1453-1455)gCa>gAa	p.A485E	CLGN_ENST00000537281.1_Missense_Mutation_p.A485E|CLGN_ENST00000414773.1_Missense_Mutation_p.A485E	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	485					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AGTAATTAATGCTATTGGCAC	0.373000													14	41					9.31168e-06	1.1174e-05	1	1	0
OR10T2	128360	broad.mit.edu	37	1	158369194	158369194	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:158369194C>G	ENST00000334438.1	-	1	62	c.63G>C	c.(61-63)ctG>ctC	p.L21L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GGAGCTCCCCCAGGCTGGAGA	0.473000													15	62					0	0	1	0	0
SLC16A3	9123	broad.mit.edu	37	17	80195567	80195567	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:80195567C>T	ENST00000581287.1	+	3	3243	c.921C>T	c.(919-921)ctC>ctT	p.L307L	SLC16A3_ENST00000392339.1_Silent_p.L307L|SLC16A3_ENST00000392341.1_Silent_p.L307L|SLC16A3_ENST00000582743.1_Silent_p.L307L	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	307					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TCAACGGCCTCGCGGACCTGG	0.657000													13	75					0	0	1	0	0
IGKV2D-30	28881	broad.mit.edu	37	2	89976434	89976434	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:89976434G>T	ENST00000474213.1	+	0	340																											AAAATCAGCAGGGTGGAGGCT	0.532000													7	108					0.000978159	0.00107406	1	1	0
DHX40	79665	broad.mit.edu	37	17	57682541	57682541	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:57682541C>G	ENST00000451169.2	+	19	2182	c.1823C>G	c.(1822-1824)tCa>tGa	p.S608*	DHX40_ENST00000251241.4_Nonsense_Mutation_p.S656*|DHX40_ENST00000425628.3_Nonsense_Mutation_p.S579*			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	656							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CATCCTTCCTCAGCAGTAAGT	0.323000													5	47					0	0	1	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621109	99621109	+	Translation_Start_Site	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:99621109A>T	ENST00000324306.6	+	0	214				ZKSCAN1_ENST00000426572.1_Intron|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1						viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGTTTGGATCAAGTCAGTTCC	0.448000													26	69					0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179252158	179252158	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:179252158C>T	ENST00000389805.4	+	5	864	c.686C>T	c.(685-687)tCg>tTg	p.S229L	SQSTM1_ENST00000376929.3_Missense_Mutation_p.S145L|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S229L|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S145L|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S145L	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	229					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGGTCCATCGGAGGATCCG	0.493000													9	60					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70681815	70681815	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:70681815C>T	ENST00000377844.4	-	1	776	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	6					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GAAGTCTTTTCGCCCAGAGCC	0.642000													6	27					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100035309	100035309	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:100035309C>G	ENST00000258428.3	-	12	2160	c.1932G>C	c.(1930-1932)caG>caC	p.Q644H	REV1_ENST00000393445.3_Missense_Mutation_p.Q643H|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	644	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTCACTAGCTGGCCTCTGA	0.353000								Direct reversal of damage					11	47					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2885091	2885091	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:2885091C>A	ENST00000254528.3	+	3	546	c.387C>A	c.(385-387)ctC>ctA	p.L129L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	129					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TGAAGACCCTCCGCCCCACGC	0.512000													31	92					1.61788e-16	2.54617e-16	1	1	0
SAMD3	154075	broad.mit.edu	37	6	130497017	130497017	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:130497017C>A	ENST00000532763.1	-	7	914	c.785G>T	c.(784-786)aGa>aTa	p.R262I	SAMD3_ENST00000437477.2_Missense_Mutation_p.R264I|SAMD3_ENST00000368134.2_Missense_Mutation_p.R264I|SAMD3_ENST00000457563.2_Missense_Mutation_p.R288I|SAMD3_ENST00000439090.2_Missense_Mutation_p.R264I			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	264										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTCATCAAATCTTATATCAGC	0.313000													8	85					3.09899e-07	3.89985e-07	1	1	0
STRN4	29888	broad.mit.edu	37	19	47231989	47231989	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:47231989C>T	ENST00000391910.3	-	7	1375	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	STRN4_ENST00000539396.1_Missense_Mutation_p.E190K|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000263280.6_Missense_Mutation_p.E309K			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	309						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GAGTCGTCTTCCTCATCCTCG	0.572000													8	95					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981802	7981802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:7981802G>A	ENST00000328600.2	-	2	1518	c.1357C>T	c.(1357-1359)Caa>Taa	p.Q453*		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	453	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTCCCAATTGGTAGTCGTTA	0.483000													8	112					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180648	124180648	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:124180648A>C	ENST00000357821.2	-	1	85	c.15T>G	c.(13-15)aaT>aaG	p.N5K		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCATAGAATAATTTTCCATGG	0.423000													16	92					0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39578641	39578641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:39578641C>A	ENST00000225550.3	-	4	777	c.778G>T	c.(778-780)Gag>Tag	p.E260*	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	260	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ATGTCCAGCTCGATCCGGAAC	0.552000													60	144					3.53049e-34	6.1623e-34	1	1	0
OTOP1	133060	broad.mit.edu	37	4	4190634	4190634	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:4190634C>A	ENST00000296358.4	-	6	1759	c.1735G>T	c.(1735-1737)Ggc>Tgc	p.G579C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	579					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGTTCAAAGCCAAAGACAATC	0.473000													6	101					1.12685e-05	1.34422e-05	1	1	0
REXO1	57455	broad.mit.edu	37	19	1820268	1820268	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:1820268C>T	ENST00000170168.4	-	6	2615	c.2521G>A	c.(2521-2523)Gag>Aag	p.E841K		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	841						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACCTTCTCTATGGCCTCC	0.607000													18	79					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120322433	120322433	+	Splice_Site	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:120322433G>C	ENST00000397843.2	+	22	2222	c.2056_splice	c.e22+1	p.G686_splice	ARHGEF12_ENST00000532993.1_Splice_Site_p.G583_splice|ARHGEF12_ENST00000356641.3_Splice_Site_p.G667_splice	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	686					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAATGATACAGGTGAGCTATT	0.408000			T	MLL	AML								4	22					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47941172	47941172	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:47941172C>T	ENST00000236877.6	-	7	2339	c.1944G>A	c.(1942-1944)atG>atA	p.M648I	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Missense_Mutation_p.M404I|SLC8A2_ENST00000539381.1_Missense_Mutation_p.M111I	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	648					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTGGCTTGCCCATCTCTGCTA	0.577000													53	90					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10317571	10317571	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:10317571C>A	ENST00000403437.2	-	11	1040	c.946G>T	c.(946-948)Gtc>Ttc	p.V316F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	316	Myosin head-like.				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						CCCTGACTGACGAAGGCATAG	0.373000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				35	181					1.36161e-19	2.24817e-19	1	1	0
RHOJ	57381	broad.mit.edu	37	14	63671593	63671593	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:63671593C>A	ENST00000316754.3	+	1	468	c.6C>A	c.(4-6)aaC>aaA	p.N2K	RHOJ_ENST00000555125.1_Missense_Mutation_p.N2K|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	2					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CAAGAATGAACTGCAAAGAGG	0.567000													5	22					0.014758	0.0152889	1	1	0
SGOL2	151246	broad.mit.edu	37	2	201438678	201438678	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:201438678G>T	ENST00000357799.4	+	7	3707	c.3609G>T	c.(3607-3609)cgG>cgT	p.R1203R		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1203					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAGTCAACCGGAGAACCCAAA	0.333000													4	40					0.014758	0.0152889	1	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84606240	84606240	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:84606240C>T	ENST00000344803.2	+	4	902	c.855C>T	c.(853-855)gcC>gcT	p.A285A		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TTTCGCAGGCCATGAATCCCA	0.478000													84	219					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237620026	237620026	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:237620026G>T	ENST00000366574.2	+	16	1920	c.1603G>T	c.(1603-1605)Gag>Tag	p.E535*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E519*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E533*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	535					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)			TTCTCTGTATGAGTTGCTGGG	0.443000													10	98					1.08611e-07	1.39732e-07	1	1	0
HRH2	3274	broad.mit.edu	37	5	175110326	175110326	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:175110326C>A	ENST00000231683.2	+	1	1863	c.90C>A	c.(88-90)ctC>ctA	p.L30L	HRH2_ENST00000377291.2_Silent_p.L30L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	30					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	TCCTCATCCTCATCACCGTTG	0.572000													26	170					1.38267e-23	2.35826e-23	1	1	0
PRPF31	26121	broad.mit.edu	37	19	54621767	54621767	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:54621767G>A	ENST00000321030.4	+	2	458	c.109G>A	c.(109-111)Gag>Aag	p.E37K	PRPF31_ENST00000391755.1_Missense_Mutation_p.E37K|PRPF31_ENST00000419967.1_Missense_Mutation_p.E37K	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	37					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ggatgtgcaggaggagACACA	0.542000													11	207					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138833076	138833076	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:138833076C>T	ENST00000464848.1	+	7	750	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	TTC26_ENST00000495038.1_Intron|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000343187.4_Missense_Mutation_p.L193F|TTC26_ENST00000474035.2_Missense_Mutation_p.L224F|TTC26_ENST00000430935.1_Missense_Mutation_p.L224F|TTC26_ENST00000481482.1_3'UTR			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	224							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CGCACTCAATCTTAAAGCCTG	0.388000													22	148					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842359	14842359	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:14842359G>A	ENST00000380881.4	-	10	2511	c.1696C>T	c.(1696-1698)Cca>Tca	p.P566S	FREM1_ENST00000380880.3_Missense_Mutation_p.P565S|FREM1_ENST00000422223.2_Missense_Mutation_p.P565S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	565					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGCCTGTGGAGGCTTTGTG	0.498000													36	71					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158058184	158058184	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:158058184C>T	ENST00000368172.1	+	4	390	c.378C>T	c.(376-378)acC>acT	p.T126T	KIRREL_ENST00000416935.2_Silent_p.T228T|KIRREL_ENST00000392272.2_Silent_p.T225T|KIRREL_ENST00000359209.6_Silent_p.T328T|KIRREL_ENST00000360089.4_Silent_p.T164T|KIRREL_ENST00000368173.3_Silent_p.T328T			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	328	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TGACCCTTACCTGTGTCTGGG	0.473000													41	115					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103427815	103427815	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:103427815G>T	ENST00000358392.2	-	40	3384	c.3067C>A	c.(3067-3069)Cca>Aca	p.P1023T	COL11A1_ENST00000370096.3_Missense_Mutation_p.P1011T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P972T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P895T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1011	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)		TGAGGACCTGGATCACCCTAA	0.383000													18	42					6.33239e-15	9.70805e-15	1	1	0
ZSCAN22	342945	broad.mit.edu	37	19	58850179	58850179	+	Silent	SNP	G	G	A	rs139283341	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:58850179G>A	ENST00000329665.4	+	3	1110	c.963G>A	c.(961-963)gcG>gcA	p.A321A		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	321					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A321A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		ACACAGGGGCGAAGCCCCATG	0.567000													7	119					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56127851	56127851	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:56127851G>T	ENST00000303039.3	+	1	161	c.129G>T	c.(127-129)ctG>ctT	p.L43L		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CAGGGAACCTGGGCATCATCA	0.493000													36	108					4.65686e-17	7.39814e-17	1	1	0
TRANK1	9881	broad.mit.edu	37	3	36897943	36897943	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:36897943C>A	ENST00000301807.6	-	12	3385	c.1488G>T	c.(1486-1488)ttG>ttT	p.L496F	TRANK1_ENST00000429976.2_Missense_Mutation_p.L1046F|TRANK1_ENST00000428977.2_Missense_Mutation_p.L496F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1046					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATTTCTTCCACAATCTGTACA	0.532000													17	34					3.52763e-06	4.28674e-06	1	1	0
JAG1	182	broad.mit.edu	37	20	10630189	10630189	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:10630189C>A	ENST00000254958.5	-	10	1844	c.1329G>T	c.(1327-1329)atG>atT	p.M443I	JAG1_ENST00000423891.2_Missense_Mutation_p.M284I	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	443	EGF-like 6; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AATTCTGACCCATCCAGCCGG	0.463000									Alagille Syndrome				6	27					0.000157383	0.000177651	1	1	0
SLC25A12	8604	broad.mit.edu	37	2	172700922	172700922	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:172700922C>T	ENST00000422440.2	-	5	459	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Missense_Mutation_p.R34Q	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	141	EF-hand 3.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ATGCTTCTTCCGGTTATGCCC	0.358000													7	94					0	0	1	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581326	234581326	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:234581326C>G	ENST00000354728.4	+	1	828	c.746C>G	c.(745-747)tCa>tGa	p.S249*	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		AGCCACACATCAATTTGGTTG	0.433000													17	383					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131138201	131138201	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:131138201C>A	ENST00000357668.1	-	16	1543		c.e16+1		ASAP1_ENST00000518721.1_Splice_Site			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1						cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCACTACTTACCAAGAGTTCA	0.348000													19	75					1.15919e-05	1.37953e-05	1	1	0
RYR1	6261	broad.mit.edu	37	19	38993165	38993165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:38993165G>T	ENST00000355481.4	+	48	7764	c.7633G>T	c.(7633-7635)Gag>Tag	p.E2545*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.E2545*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.E2545*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2545	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGCACCACCGAGATGGCGCT	0.652000													5	14					8.12818e-05	9.27883e-05	1	1	0
OR13G1	441933	broad.mit.edu	37	1	247835951	247835951	+	Silent	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:247835951A>G	ENST00000359688.2	-	1	414	c.393T>C	c.(391-393)acT>acC	p.T131T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGTTCATAATAGTACTGTAAT	0.468000													12	78					0	0	1	0	0
FAM86A	196483	broad.mit.edu	37	16	5145516	5145516	+	Splice_Site	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:5145516C>G	ENST00000427587.4	-	2	165		c.e2-1		FAM86A_ENST00000587133.1_Splice_Site|FAM86A_ENST00000458008.4_Splice_Site	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A											endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CTTCTAAGCTCTGTGTGGAGG	0.493000													6	131					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354393	17354393	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:17354393C>A	ENST00000511821.1	+	0	252				FTH1P10_ENST00000401830.3_RNA																							TCTTCAAAGCCACATCATCGC	0.502000													65	87					4.29146e-36	7.51658e-36	1	1	0
RYR1	6261	broad.mit.edu	37	19	38964151	38964151	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:38964151C>A	ENST00000355481.4	+	28	4031	c.3900C>A	c.(3898-3900)ttC>ttA	p.F1300L	RYR1_ENST00000360985.3_Missense_Mutation_p.F1300L|RYR1_ENST00000359596.3_Missense_Mutation_p.F1300L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1300	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCAGCACTTCCGCTGCACTG	0.701000													7	30					0.0293803	0.030189	1	1	0
ZNF229	7772	broad.mit.edu	37	19	44933269	44933269	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:44933269G>C	ENST00000291187.4	-	6	1991	c.1669C>G	c.(1669-1671)Cag>Gag	p.Q557E	ZNF229_ENST00000588931.1_Missense_Mutation_p.Q563E|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGGACCCTCTGATGGATGTGG	0.567000													5	91					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097668	167097668	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:167097668G>T	ENST00000361200.2	+	6	3466	c.3300G>T	c.(3298-3300)gaG>gaT	p.E1100D	DUSP27_ENST00000443333.1_Missense_Mutation_p.E1100D|DUSP27_ENST00000271385.5_Missense_Mutation_p.E1100D|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1100					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGAGGGAGAGAAAGAGAGGA	0.498000													6	65					0.00116845	0.00126781	1	1	0
C12orf77	196415	broad.mit.edu	37	12	25149232	25149232	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:25149232G>T	ENST00000549828.1	-	2	249	c.45C>A	c.(43-45)gtC>gtA	p.V15V	C12orf77_ENST00000549262.1_5'UTR|C12orf77_ENST00000434912.3_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	15										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						CTTCCTTTATGACTAGGAGGG	0.418000													42	52					4.16155e-14	6.30803e-14	1	1	0
MACF1	23499	broad.mit.edu	37	1	39765951	39765951	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:39765951G>A	ENST00000564288.1	+	22	3328	c.2551G>A	c.(2551-2553)Gtt>Att	p.V851I	MACF1_ENST00000545844.1_Missense_Mutation_p.V856I|MACF1_ENST00000317713.7_Missense_Mutation_p.V856I|MACF1_ENST00000567887.1_Missense_Mutation_p.V888I|MACF1_ENST00000361689.2_Missense_Mutation_p.V856I|MACF1_ENST00000372915.3_Missense_Mutation_p.V856I|MACF1_ENST00000539005.1_Missense_Mutation_p.V856I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	856					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAAACCATCGTTCAGCTAAA	0.438000													12	99					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872911	35872911	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:35872911C>A	ENST00000216797.5	-	2	422	c.321G>T	c.(319-321)caG>caT	p.Q107H	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.Q107H|NFKBIA_ENST00000557389.1_Missense_Mutation_p.Q17H	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	107					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|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|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GCAGGTTGTTCTGGAAGTTGA	0.567000													7	13					0.000157383	0.000177651	1	1	0
ABCC9	10060	broad.mit.edu	37	12	22063861	22063861	+	Missense_Mutation	SNP	C	C	G	rs145455570		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:22063861C>G	ENST00000261200.4	-	7	1062	c.1063G>C	c.(1063-1065)Gca>Cca	p.A355P	ABCC9_ENST00000261201.4_Missense_Mutation_p.A355P|ABCC9_ENST00000345162.2_Missense_Mutation_p.A355P	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	355	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGAAGAACTGCTAGAACGTAA	0.398000													39	61					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10251326	10251326	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:10251326G>C	ENST00000256458.4	+	4	568	c.478G>C	c.(478-480)Gat>Cat	p.D160H		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	160					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TCCTGAAGAAGATGCCCCTCA	0.597000													78	116					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22382442	22382442	+	Splice_Site	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:22382442G>A	ENST00000263160.3	+	5	1010		c.e5-1			NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6						sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CCCCATCACAGGGTGTGACCT	0.498000													13	20					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25483203	25483203	+	RNA	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:25483203A>G	ENST00000453082.2	+	0	1979				SNORD115-37_ENST00000363768.1_RNA	NR_003343.1																						TAATAGTATTATGCTGAAGCC	0.463000													12	88					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840702	142840702	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:142840702C>T	ENST00000309575.3	+	2	2428	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	348					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						GCCACGGCCTCATCCGTGAGA	0.687000													6	14					0	0	1	0	0
ZNF669	79862	broad.mit.edu	37	1	247264355	247264355	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:247264355C>G	ENST00000343381.6	-	4	888	c.716G>C	c.(715-717)aGa>aCa	p.R239T	ZNF669_ENST00000366500.1_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.R153T|ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000366501.1_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TATCATGTGTCTTCTAACACC	0.378000													27	183					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903943	4903943	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:4903943A>G	ENST00000380378.1	+	1	895	c.895A>G	c.(895-897)Agg>Ggg	p.R299G	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.R272G|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCACCCCAAGGGTGCTCTG	0.493000													6	58					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114392897	114392897	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:114392897G>A	ENST00000536271.1	-	4	1828	c.585C>T	c.(583-585)aaC>aaT	p.N195N	NXPE1_ENST00000251921.2_Silent_p.N337N|NXPE1_ENST00000424269.1_Silent_p.N479N					neurexophilin and PC-esterase domain family, member 1																		TCTCCCTGATGTTTTCTGTCT	0.408000													7	116					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140168035	140168035	+	Silent	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140168035G>C	ENST00000504120.2	+	1	2160	c.2160G>C	c.(2158-2160)gcG>gcC	p.A720A	PCDHA1_ENST00000378133.3_Silent_p.A720A|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACACGGCGCTGCGGTGCT	0.657000													11	58					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141242793	141242793	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:141242793C>T	ENST00000394536.3	-	3	3242	c.3103G>A	c.(3103-3105)Ggc>Agc	p.G1035S	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.G1013S|PCDH1_ENST00000287008.3_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.G1023S	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	1035					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)		AAGGGCTGGCCTACCTGCTTG	0.632000													7	32					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6173538	6173538	+	Missense_Mutation	SNP	G	G	T	rs61754008	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:6173538G>T	ENST00000261405.5	-	12	1560	c.1306C>A	c.(1306-1308)Cgc>Agc	p.R436S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	436	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACAGCGTCGCGGTCATCAGCA	0.612000													18	30					1.37522e-17	2.19687e-17	1	1	0
ANO2	57101	broad.mit.edu	37	12	5860068	5860068	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:5860068G>T	ENST00000356134.5	-	12	1186	c.1115C>A	c.(1114-1116)cCa>cAa	p.P372Q	ANO2_ENST00000327087.8_Missense_Mutation_p.P371Q|ANO2_ENST00000546188.1_Missense_Mutation_p.P372Q	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	376						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TACAGAAGATGGGATGAGGAA	0.348000													10	16					3.86212e-05	4.47473e-05	1	1	0
ENTPD4	9583	broad.mit.edu	37	8	23302001	23302001	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:23302001G>A	ENST00000358689.4	-	5	766	c.531C>T	c.(529-531)ctC>ctT	p.L177L	ENTPD4_ENST00000356206.6_Silent_p.L177L|ENTPD4_ENST00000417069.2_Silent_p.L177L	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	177					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CAGCCGTGCAGAGAATGTAGA	0.532000													17	43					0	0	1	0	0
RPS10	6204	broad.mit.edu	37	6	34385290	34385290	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:34385290G>T	ENST00000326199.8	-	6	584	c.491C>A	c.(490-492)cCt>cAt	p.P164H	RP1-187N21.4_ENST00000605528.1_Intron|RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000344700.3_3'UTR	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1			ribosomal protein S10											breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						ATTTTACTGAGGTGGCTGACC	0.433000													19	33					2.4624e-09	3.33167e-09	1	1	0
NFIC	4782	broad.mit.edu	37	19	3452590	3452590	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:3452590C>T	ENST00000589123.1	+	8	1288	c.1168C>T	c.(1168-1170)Cat>Tat	p.H390Y	NFIC_ENST00000590282.1_Missense_Mutation_p.H399Y|NFIC_ENST00000586919.1_Missense_Mutation_p.H366Y|NFIC_ENST00000443272.2_Missense_Mutation_p.H399Y|NFIC_ENST00000341919.3_Missense_Mutation_p.H399Y|NFIC_ENST00000346156.5_Missense_Mutation_p.H366Y|NFIC_ENST00000395111.3_Missense_Mutation_p.H390Y	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	399					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTACCCACCTCATCTCAACCC	0.657000													21	187					0	0	1	0	0
CREM	1390	broad.mit.edu	37	10	35500307	35500307	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:35500307A>T	ENST00000333809.8	+	8	1082	c.1028A>T	c.(1027-1029)tAt>tTt	p.Y343F	CREM_ENST00000337656.4_Missense_Mutation_p.Y294F|CREM_ENST00000484283.1_Intron|CREM_ENST00000374721.3_Missense_Mutation_p.Y264F|CREM_ENST00000488741.1_Missense_Mutation_p.Y97F|CREM_ENST00000463314.1_Intron|CREM_ENST00000460270.1_Missense_Mutation_p.Y90F|CREM_ENST00000474931.1_Missense_Mutation_p.Y107F|CREM_ENST00000439705.1_Missense_Mutation_p.Y280F|CREM_ENST00000473940.1_Missense_Mutation_p.Y115F|CREM_ENST00000463960.1_Intron|CREM_ENST00000344351.5_Missense_Mutation_p.Y90F|CREM_ENST00000474362.1_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000395887.3_Intron|CREM_ENST00000354759.3_Missense_Mutation_p.Y243F|CREM_ENST00000348787.2_Intron|CREM_ENST00000395895.2_Intron|CREM_ENST00000342105.3_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000488328.1_Intron|CREM_ENST00000356917.5_Missense_Mutation_p.Y103F|CREM_ENST00000374734.3_Missense_Mutation_p.Y231F|CREM_ENST00000487763.1_Intron|CREM_ENST00000468236.1_Intron|CREM_ENST00000490511.1_Intron	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	355	Leucine-zipper (By similarity).				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						AAAGATCTTTATTGCCATAAA	0.408000													9	68					0	0	1	0	0
CLK3	1198	broad.mit.edu	37	15	74919956	74919956	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:74919956A>T	ENST00000395066.3	+	9	1894	c.1433A>T	c.(1432-1434)cAc>cTc	p.H478L	CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_Missense_Mutation_p.H307L|CLK3_ENST00000345005.4_Missense_Mutation_p.H330L	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	478	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GACCATGAGCACCACACCACC	0.552000													33	155					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798941	212798941	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:212798941G>C	ENST00000294829.3	+	1	1153	c.722G>C	c.(721-723)gGg>gCg	p.G241A	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	241										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TATGCTGGAGGGGAGGGACTC	0.532000													28	130					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61067671	61067671	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:61067671C>A	ENST00000301764.7	-	27	3757	c.3360G>T	c.(3358-3360)atG>atT	p.M1120I	DDB1_ENST00000451943.2_Missense_Mutation_p.M107I|DDB1_ENST00000538470.1_Missense_Mutation_p.M167I|DDB1_ENST00000450997.2_Missense_Mutation_p.M431I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1120	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTCTCGCTTCATACCGCTGC	0.592000								Nucleotide excision repair (NER)					4	45					0.150653	0.152316	1	1	0
PCDHA4	56144	broad.mit.edu	37	5	140189128	140189128	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140189128C>A	ENST00000530339.1	+	1	2356	c.2356C>A	c.(2356-2358)Ctg>Atg	p.L786M	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.L786M|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L786M|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGATCAGCTGCAGACAAC	0.458000													33	74					1.99505e-19	3.28866e-19	1	1	0
NRXN3	9369	broad.mit.edu	37	14	79181241	79181241	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:79181241C>G	ENST00000554719.1	+	5	1175	c.684C>G	c.(682-684)gcC>gcG	p.A228A	NRXN3_ENST00000335750.5_Silent_p.A228A	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGTGGACTGCCATGCTCAACT	0.592000													35	64					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111287	81111287	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:81111287C>A	ENST00000228644.3	+	1	597	c.445C>A	c.(445-447)Ccg>Acg	p.P149T		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	149					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CTATAGCCTGCCGGGACAGAG	0.567000													42	131					1.32136e-16	2.0893e-16	1	1	0
OR52K2	119774	broad.mit.edu	37	11	4471055	4471055	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:4471055C>T	ENST00000325719.4	+	1	531	c.486C>T	c.(484-486)ccC>ccT	p.P162P		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCACTCCCCTTCCTGCTGA	0.582000													27	83					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114499327	114499327	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:114499327C>A	ENST00000513154.1	-	2	476	c.150G>T	c.(148-150)ctG>ctT	p.L50L	TRIM36_ENST00000282369.3_Silent_p.L62L|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	62						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CATCGAGAGTCAGCAGGAGTT	0.468000													6	64					0.00116845	0.00126781	1	1	0
TMSB15A	11013	broad.mit.edu	37	X	101770089	101770089	+	Translation_Start_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:101770089C>A	ENST00000289373.4	-	2	138	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN	thymosin beta 15a	1					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	p.M1I(1)		large_intestine(1)|lung(1)	2						GCTTATCACTCATCTTGACTA	0.363000													21	28					8.34094e-07	1.03098e-06	1	1	0
CTD-3099C6.5	0	broad.mit.edu	37	19	53015467	53015467	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:53015467G>T	ENST00000599143.1	-	0	128																											TTCAGTCACAGATCACGCCTT	0.393000													8	62					0.00307968	0.00328673	1	1	0
RNF144A	9781	broad.mit.edu	37	2	7160679	7160679	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:7160679G>T	ENST00000320892.6	+	6	819	c.377G>T	c.(376-378)gGg>gTg	p.G126V	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	126						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CAGGACGTGGGGCTGCAGACC	0.622000													20	71					1.00905e-13	1.51809e-13	1	1	0
SLC17A8	246213	broad.mit.edu	37	12	100774638	100774638	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:100774638C>G	ENST00000323346.5	+	2	574	c.261C>G	c.(259-261)tgC>tgG	p.C87W	SLC17A8_ENST00000392989.3_Missense_Mutation_p.C87W	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	87					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGGGATTCTGCATTTCCTTTG	0.527000													27	103					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71571150	71571150	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:71571150C>G	ENST00000395275.2	-	4	762	c.374G>C	c.(373-375)cGc>cCc	p.R125P	CALN1_ENST00000395276.2_Missense_Mutation_p.R83P|CALN1_ENST00000329008.5_Missense_Mutation_p.R83P|CALN1_ENST00000431984.1_Missense_Mutation_p.R83P|CALN1_ENST00000412588.1_Missense_Mutation_p.R125P|CALN1_ENST00000405452.2_Missense_Mutation_p.R83P	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	83						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATGTCCAAGCGCTGCATGAT	0.587000													9	15					0	0	1	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247201	26247201	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:26247201G>A	ENST00000244537.4	-	1	58	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	2					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCCCCGAACAGACATGATAAA	0.448000													6	42					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584492	82584492	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:82584492T>C	ENST00000423517.2	-	5	6114	c.5777A>G	c.(5776-5778)cAc>cGc	p.H1926R	PCLO_ENST00000333891.8_Missense_Mutation_p.H1926R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1857					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGTATTTGTGTGTTTTATG	0.363000													5	32					0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36262117	36262117	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:36262117T>C	ENST00000296604.3	-	7	993	c.508A>G	c.(508-510)Agt>Ggt	p.S170G	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S195G|RANBP3L_ENST00000515759.1_Missense_Mutation_p.S170G	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	170					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AAATTTTCACTTAACAAATAG	0.343000													23	229					0	0	1	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494401	106494401	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:106494401C>A	ENST00000390597.2	-	0	110																											GTGGGTTTCACCAGCGTAGGA	0.537000													22	27					8.04996e-18	1.29416e-17	1	1	0
GRB14	2888	broad.mit.edu	37	2	165404204	165404204	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:165404204C>A	ENST00000263915.3	-	3	985	c.447G>T	c.(445-447)tgG>tgT	p.W149C	GRB14_ENST00000543549.1_Missense_Mutation_p.W62C	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	149	Ras-associating.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CAAAAAGGGTCCAGCTGTGGT	0.443000													10	57					7.03913e-09	9.40416e-09	1	1	0
SPAM1	6677	broad.mit.edu	37	7	123594064	123594064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:123594064G>A	ENST00000340011.5	+	3	797	c.440G>A	c.(439-441)tGg>tAg	p.W147*	SPAM1_ENST00000439500.1_Nonsense_Mutation_p.W147*|SPAM1_ENST00000460182.1_Nonsense_Mutation_p.W147*|SPAM1_ENST00000402183.2_Nonsense_Mutation_p.W147*|SPAM1_ENST00000223028.7_Nonsense_Mutation_p.W147*	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	147					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GTTATTGACTGGGAAGAATGG	0.383000													15	125					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154558267	154558267	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:154558267C>T	ENST00000368474.4	-	13	3476	c.3277G>A	c.(3277-3279)Gat>Aat	p.D1093N	ADAR_ENST00000368471.3_Missense_Mutation_p.D798N|ADAR_ENST00000292205.5_Missense_Mutation_p.D1136N	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1093	A to I editase.			D -> G (in Ref. 5; CAE45853).	adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CGTAGTCCATCCTCAAATGCA	0.438000													8	41					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74660145	74660145	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:74660145C>T	ENST00000334011.5	+	3	665	c.447C>T	c.(445-447)gaC>gaT	p.D149D		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	149						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ATTTTTATGACATCTGCGACG	0.512000													4	27					0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724540	138724540	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:138724540G>T	ENST00000383163.2	-	1	570	c.571C>A	c.(571-573)Cgg>Agg	p.R191R		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	191	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						GGGCCCTCCCGGTAGGGGCTG	0.657000													4	16					8.12818e-05	9.27883e-05	1	1	0
USP15	9958	broad.mit.edu	37	12	62778050	62778050	+	Silent	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:62778050A>G	ENST00000280377.5	+	11	1498	c.1440A>G	c.(1438-1440)ttA>ttG	p.L480L	USP15_ENST00000353364.3_Silent_p.L451L|USP15_ENST00000393654.3_Silent_p.L455L	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	480					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AAGTTTACTTAGTTAGAATGG	0.313000													15	69					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180377516	180377516	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:180377516C>A	ENST00000340184.4	+	8	1681	c.1475C>A	c.(1474-1476)aCg>aAg	p.T492K	BTNL8_ENST00000511704.1_Missense_Mutation_p.T376K|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.T285K|BTNL8_ENST00000533815.2_Missense_Mutation_p.T308K|BTNL8_ENST00000400707.3_Missense_Mutation_p.T367K	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	492						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGCAACCACGCCCTTCCTC	0.532000													7	85					0.0477658	0.0488563	1	1	0
CSH1	1442	broad.mit.edu	37	17	61972388	61972388	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:61972388G>A	ENST00000316193.8	-	5	789	c.648C>T	c.(646-648)ggC>ggT	p.G216G	CSH1_ENST00000329882.8_3'UTR|CSH1_ENST00000453363.3_Silent_p.G121G	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	216					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GCACCTAGAAGCCACAGCTGC	0.577000									Russell-Silver syndrome				24	93					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204418313	204418313	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:204418313C>A	ENST00000367187.3	-	15	2902	c.2346_splice	c.e15+1	p.Q782_splice	PIK3C2B_ENST00000424712.2_Splice_Site_p.Q782_splice	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	782					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AAAGCCTCACCTGCAGGATGA	0.552000													3	15					0.004672	0.00494163	1	1	0
TMEM62	80021	broad.mit.edu	37	15	43476676	43476676	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:43476676G>T	ENST00000260403.2	+	14	2103	c.1824G>T	c.(1822-1824)cgG>cgT	p.R608R	RP11-473C18.3_ENST00000565685.1_RNA|EPB42_ENST00000563128.1_Intron	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	608						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CCCCTTTGCGGACCTGGTTGA	0.448000													43	168					1.62957e-23	2.77702e-23	1	1	0
TLK2	11011	broad.mit.edu	37	17	60679466	60679466	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:60679466C>T	ENST00000582809.1	+	20	2040	c.1337C>T	c.(1336-1338)tCg>tTg	p.S446L	TLK2_ENST00000343388.7_Missense_Mutation_p.S563L|TLK2_ENST00000542523.1_Missense_Mutation_p.S563L|TLK2_ENST00000346027.5_Missense_Mutation_p.S595L|TLK2_ENST00000326270.9_Missense_Mutation_p.S617L			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	617					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTTGGTCTTTCGAAGATCATG	0.383000													4	58					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68257294	68257294	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:68257294G>A	ENST00000347230.4	-	15	2888	c.2750C>T	c.(2749-2751)gCa>gTa	p.A917V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A917V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	917					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGACCTGCTGCTGCAGCGCT	0.552000													21	42					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923410	13923410	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:13923410G>C	ENST00000265104.4	-	4	521	c.417C>G	c.(415-417)atC>atG	p.I139M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	139	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTCAGGGGTGATGGCTTTGG	0.458000									Kartagener syndrome				210	183					0	0	1	0	0
ABHD17B	51104	broad.mit.edu	37	9	74484999	74484999	+	Splice_Site	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:74484999T>A	ENST00000333421.6	-	3	758	c.647_splice	c.e3+1	p.N216_splice	ABHD17B_ENST00000377041.2_Splice_Site_p.N216_splice	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		TGCTACTTACTTTGGGAATGC	0.358000													4	67					0	0	1	0	0
ZNF154	7710	broad.mit.edu	37	19	58213190	58213190	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:58213190T>C	ENST00000512439.2	-	3	1323	c.1127A>G	c.(1126-1128)cAg>cGg	p.Q376R	ZNF154_ENST00000426889.1_Missense_Mutation_p.Q376R|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	376						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGAACTCTCTGGTGTTTTCG	0.502000													20	89					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236205435	236205435	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:236205435C>A	ENST00000264187.6	-	4	992	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C	NID1_ENST00000366595.3_Missense_Mutation_p.G304C	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	304					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCCTCCAGGCCCAGACGAGTG	0.602000													56	118					6.20943e-19	1.01362e-18	1	1	0
LRRC37B	114659	broad.mit.edu	37	17	30376182	30376182	+	Silent	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:30376182G>C	ENST00000327564.7	+	10	2587	c.2526G>C	c.(2524-2526)gtG>gtC	p.V842V	LRRC37B_ENST00000584368.1_Silent_p.V776V|LRRC37B_ENST00000341671.7_Silent_p.V815V|LRRC37B_ENST00000543378.2_Silent_p.V733V|LRRC37B_ENST00000394713.3_Silent_p.V764V			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	815						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)				ACGAGGATGTGAGAAAGTTCA	0.498000													12	115					0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208994248	208994248	+	Silent	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:208994248A>G	ENST00000282141.3	-	2	206	c.169T>C	c.(169-171)Ttg>Ctg	p.L57L		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	57	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CGCCGCAGCAAGTATTGTTGA	0.572000													8	149					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436361	179436361	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:179436361G>T	ENST00000589042.1	-	326	74722	c.74498C>A	c.(74497-74499)cCc>cAc	p.P24833H	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15893H|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P22265H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P23192H|TTN_ENST00000460472.2_Missense_Mutation_p.P15768H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15960H|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23192	Fibronectin type-III 80.						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)			ATCATACTTGGGTGGGCCCCA	0.438000													8	44					0.0381472	0.0390578	1	1	0
PALB2	79728	broad.mit.edu	37	16	23646430	23646430	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:23646430C>T	ENST00000261584.4	-	4	1589	c.1437G>A	c.(1435-1437)caG>caA	p.Q479Q		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	479					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AGAGAAGTTTCTGAGAGGTTC	0.433000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					8	151					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111334	81111334	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:81111334T>A	ENST00000228644.3	+	1	644	c.492T>A	c.(490-492)tcT>tcA	p.S164S		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	164					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCAACTGCTCTGATGGCATGG	0.547000													26	140					0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58681922	58681922	+	Splice_Site	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:58681922G>A	ENST00000254286.4	+	7	598		c.e7-1			NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)							cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TTTAATTTCAGAGAGTTGGAA	0.294000													5	13					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783244	115783244	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:115783244C>G	ENST00000343348.6	-	19	2945	c.2158G>C	c.(2158-2160)Gag>Cag	p.E720Q	SEMA6A_ENST00000257414.8_Missense_Mutation_p.E737Q|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.E720Q|SEMA6A_ENST00000503865.1_Missense_Mutation_p.E99Q|SEMA6A_ENST00000513137.1_Missense_Mutation_p.E147Q|SEMA6A_ENST00000282394.6_Missense_Mutation_p.E197Q	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	720					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AGGATGGCCTCCGGCTTTGGG	0.612000													14	154					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176522652	176522652	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:176522652G>T	ENST00000292408.4	+	13	1994	c.1749G>T	c.(1747-1749)ccG>ccT	p.P583P	FGFR4_ENST00000502906.1_Silent_p.P583P|FGFR4_ENST00000393648.2_Silent_p.P515P|FGFR4_ENST00000393637.1_Silent_p.P543P|FGFR4_ENST00000292410.3_Silent_p.P543P	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	583	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GTGAGGGGCCGCTCTCCTTCC	0.706000										TSP Lung(9;0.080)			3	11					0.115264	0.117064	1	1	0
CYP2C18	1562	broad.mit.edu	37	10	96466635	96466635	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:96466635A>T	ENST00000285979.6	+	5	936	c.737A>T	c.(736-738)gAg>gTg	p.E246V	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Intron	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TATGTATTGGAGAGAATAAAA	0.333000													9	49					0	0	1	0	0
TMEM234	56063	broad.mit.edu	37	1	32687573	32687573	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:32687573C>A	ENST00000373593.1	-	2	83	c.63G>T	c.(61-63)acG>acT	p.T21T	TMEM234_ENST00000309777.6_Silent_p.T21T|TMEM234_ENST00000545122.1_Silent_p.T21T|TMEM234_ENST00000344461.3_Silent_p.T21T			Q8WY98	TM234_HUMAN	transmembrane protein 234	21						integral to membrane				kidney(2)|lung(3)	5						GCAGCGGCTGCGTGCCACCCC	0.657000													7	50					0.00198382	0.00212846	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90874332	90874332	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:90874332C>T	ENST00000394980.1	+	9	3769	c.3450C>T	c.(3448-3450)acC>acT	p.T1150T	MMRN1_ENST00000394981.1_Silent_p.T453T|MMRN1_ENST00000508372.1_Silent_p.T892T|MMRN1_ENST00000264790.2_Silent_p.T1150T			Q13201	MMRN1_HUMAN	multimerin 1	1150	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCAAGTACACCATCGAGTCAT	0.343000													6	85					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525492	176525492	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:176525492G>A	ENST00000367662.3	+	2	1198	c.34G>A	c.(34-36)Gcg>Acg	p.A12T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A12T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	12					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AATAAGCCTGGCGATTTTGGC	0.507000													42	104					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124409700	124409700	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:124409700A>T	ENST00000409039.3	+	67	11541	c.11516A>T	c.(11515-11517)gAt>gTt	p.D3839V	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3839					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCGTGTGGATCGGGTCTAT	0.488000													17	59					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110086734	110086734	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:110086734C>A	ENST00000527748.1	+	2	1773	c.1090C>A	c.(1090-1092)Cca>Aca	p.P364T		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	364						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAAGCCAGCTCCAGAGGAGGA	0.557000													25	67					1.96895e-08	2.60118e-08	1	1	0
KIR3DL2	3812	broad.mit.edu	37	19	55377999	55377999	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:55377999A>T	ENST00000326321.3	+	9	1214	c.1181A>T	c.(1180-1182)cAg>cTg	p.Q394L	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.Q377L|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q394L	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	394					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CAAGACCCTCAGGAGGTGACG	0.502000													144	269					0	0	1	0	0
ACN9	57001	broad.mit.edu	37	7	96747071	96747071	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:96747071G>T	ENST00000432641.2	+	1	1170	c.36G>T	c.(34-36)ttG>ttT	p.L12F	ACN9_ENST00000360382.4_Missense_Mutation_p.L12F	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN	ACN9 homolog (S. cerevisiae)	12					regulation of gluconeogenesis	mitochondrial intermembrane space				large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TCCGGGCATTGTACAAGCGCG	0.637000													23	56					3.5997e-14	5.48111e-14	1	1	0
MUC16	94025	broad.mit.edu	37	19	9072528	9072528	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:9072528G>A	ENST00000397910.4	-	3	15121	c.14918C>T	c.(14917-14919)aCc>aTc	p.T4973I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4975	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGGTGATGGTTATTTCTGC	0.502000													12	94					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32179912	32179912	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:32179912C>T	ENST00000400246.1	+	9	645	c.503C>T	c.(502-504)tCg>tTg	p.S168L	DEPDC5_ENST00000382112.3_Missense_Mutation_p.S168L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S168L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S168L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S168L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S168L|DEPDC5_ENST00000536766.1_Missense_Mutation_p.S140L|DEPDC5_ENST00000400242.3_Missense_Mutation_p.S168L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S168L|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S168L			O75140	DEPD5_HUMAN	DEP domain containing 5	168					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGTTCTACGTCGGCTATGGTT	0.343000													11	249					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57288644	57288644	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:57288644G>T	ENST00000543872.2	+	2	1496	c.1232G>T	c.(1231-1233)cGg>cTg	p.R411L	SMG8_ENST00000300917.5_Missense_Mutation_p.R411L|SMG8_ENST00000578922.1_Missense_Mutation_p.R411L|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	411				R -> W (in Ref. 2; BAB15576).	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTCACTCTTCGGGAATTCCTA	0.493000													22	69					1.22574e-08	1.63216e-08	1	1	0
NCAPG	64151	broad.mit.edu	37	4	17816489	17816489	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:17816489G>C	ENST00000251496.2	+	4	734	c.558G>C	c.(556-558)ttG>ttC	p.L186F		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	186					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATGCTACTTTGATTGAAAATG	0.308000													4	50					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108746723	108746723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:108746723C>A	ENST00000232603.5	-	17	1661	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*	MORC1_ENST00000483760.1_Nonsense_Mutation_p.E527*	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	527					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGTAGACATTCTACCTGATGA	0.368000													11	66					1.58986e-06	1.95437e-06	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525940	176525940	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:176525940G>T	ENST00000367662.3	+	2	1646	c.482G>T	c.(481-483)gGg>gTg	p.G161V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G161V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	161					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTGAGGCCGGGATTCAGAAA	0.547000													30	100					3.73988e-18	6.03168e-18	1	1	0
FLNC	2318	broad.mit.edu	37	7	128494892	128494892	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:128494892C>A	ENST00000325888.8	+	42	7322	c.7061C>A	c.(7060-7062)cCt>cAt	p.P2354H	FLNC_ENST00000346177.6_Missense_Mutation_p.P2321H|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2354					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGGAGGGTCCTAGCAAAGCG	0.617000													15	85					7.93312e-07	9.81778e-07	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20448451	20448451	+	Missense_Mutation	SNP	T	T	A	rs147520476	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:20448451T>A	ENST00000331849.4	+	11	1533	c.1386T>A	c.(1384-1386)gaT>gaA	p.D462E		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	462					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.D462E(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGACAAGGATGGCTACTTTT	0.473000													30	155					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123202072	123202072	+	Silent	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:123202072T>C	ENST00000349780.4	-	24	3506	c.3327A>G	c.(3325-3327)acA>acG	p.T1109T	CDK5RAP2_ENST00000359309.3_Silent_p.T1068T|CDK5RAP2_ENST00000360190.4_Silent_p.T1109T|CDK5RAP2_ENST00000360822.3_Silent_p.T1077T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1109	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTAAGTATTCTGTCTCATTTG	0.433000													18	72					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142506508	142506508	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:142506508G>T	ENST00000430863.1	-	0	254					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GCAGGATGGTGGTGGGGTGTG	0.567000													10	49					4.68919e-08	6.11871e-08	1	1	0
STRA6	64220	broad.mit.edu	37	15	74476207	74476207	+	Silent	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:74476207A>G	ENST00000323940.5	-	14	1535	c.1290T>C	c.(1288-1290)ttT>ttC	p.F430F	STRA6_ENST00000423167.2_Silent_p.F421F|STRA6_ENST00000574278.1_Silent_p.F445F|STRA6_ENST00000416286.3_Silent_p.F422F|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000395105.4_Silent_p.F430F|STRA6_ENST00000563965.1_Silent_p.F469F|STRA6_ENST00000535552.1_Silent_p.F467F|STRA6_ENST00000449139.2_Silent_p.F430F	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	430					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CAAGGCAGATAAAGGCTGTCT	0.602000													10	82					0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31230511	31230511	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:31230511G>C	ENST00000294507.3	-	1	156	c.82C>G	c.(82-84)Cat>Gat	p.H28D	LAPTM5_ENST00000476492.1_5'UTR	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	28					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CTCACCACATGGTAGATGGCC	0.622000													4	23					0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34633010	34633010	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr21:34633010G>C	ENST00000404220.3	+	8	1147	c.818G>C	c.(817-819)aGa>aCa	p.R273T	IFNAR2_ENST00000342136.4_Missense_Mutation_p.R273T|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000413881.1_Intron|IFNAR2_ENST00000382264.3_Missense_Mutation_p.R273T|IFNAR2_ENST00000382241.3_Missense_Mutation_p.R273T			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	273					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	ATATGCTTAAGAAATAGCCTC	0.294000													5	83					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179439258	179439258	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:179439258G>T	ENST00000263966.3	+	8	1440	c.969G>T	c.(967-969)tcG>tcT	p.S323S	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Silent_p.S258S	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	323					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TCCAGGAGTCGGGCACGAAAC	0.507000													30	43					6.07407e-21	1.01959e-20	1	1	0
SLC4A8	9498	broad.mit.edu	37	12	51845945	51845945	+	Silent	SNP	C	C	A	rs143451528		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:51845945C>A	ENST00000453097.2	+	4	532	c.315C>A	c.(313-315)acC>acA	p.T105T	SLC4A8_ENST00000394856.1_Silent_p.T52T|SLC4A8_ENST00000358657.3_Silent_p.T132T|SLC4A8_ENST00000514353.3_Silent_p.T52T|SLC4A8_ENST00000535225.2_Silent_p.T52T	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	105					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTCTTGGCACCGAGGAAGATG	0.463000													14	151					9.31168e-06	1.1174e-05	1	1	0
OR2T12	127064	broad.mit.edu	37	1	248458094	248458094	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:248458094G>A	ENST00000317996.1	-	1	786	c.787C>T	c.(787-789)Cac>Tac	p.H263Y		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GTGGACCTGTGGGATTTGGGT	0.478000													61	164					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114031350	114031350	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:114031350G>A	ENST00000297405.5	-	6	1220	c.976C>T	c.(976-978)Cat>Tat	p.H326Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.H326Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H286Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H326Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	326	CUB 2.					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						GTAACAAAATGCAGTCTGAGC	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	89					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74883723	74883723	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:74883723G>A	ENST00000357877.2	+	2	357	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	SEMA4F_ENST00000339773.5_Missense_Mutation_p.V70M	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	70	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGTTCTCCTTGTGGATCCTGC	0.557000													23	68					0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80553642	80553642	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:80553642G>T	ENST00000220876.7	+	3	527	c.145G>T	c.(145-147)Gcc>Tcc	p.A49S	STMN2_ENST00000518491.1_Missense_Mutation_p.A38S|STMN2_ENST00000518111.1_Missense_Mutation_p.A49S	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	49	Regulatory/phosphorylation domain (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding	p.A49T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CAACAAACGTGCCTCTGGCCA	0.413000													27	48					3.99451e-17	6.3559e-17	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181690897	181690897	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:181690897C>A	ENST00000526775.1	+	16	2125	c.1960C>A	c.(1960-1962)Ctg>Atg	p.L654M	CACNA1E_ENST00000357570.5_Missense_Mutation_p.L605M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L605M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L261M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L654M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L654M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L654M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	654					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTGTAGATCCTGACGGGTGA	0.537000													29	88					6.38683e-12	9.31009e-12	1	1	0
GRIK3	2899	broad.mit.edu	37	1	37324787	37324787	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:37324787C>G	ENST00000373091.3	-	7	1042	c.1026G>C	c.(1024-1026)caG>caC	p.Q342H	GRIK3_ENST00000373093.4_Missense_Mutation_p.Q342H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	342					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TCACGGTCATCTGTGGTGCCC	0.622000													35	80					0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79095610	79095610	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:79095610G>T	ENST00000326724.4	-	11	2150	c.2126C>A	c.(2125-2127)cCc>cAc	p.P709H	AATK_ENST00000417379.1_Missense_Mutation_p.P606H	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	709	Pro-rich.					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CTTTGGACTGGGGCAGCCCTC	0.706000													3	5					2.56e-06	3.12407e-06	1	1	0
POSTN	10631	broad.mit.edu	37	13	38158943	38158943	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:38158943C>A	ENST00000379747.4	-	8	1135	c.1018G>T	c.(1018-1020)Gta>Tta	p.V340L	POSTN_ENST00000541179.1_Missense_Mutation_p.V340L|POSTN_ENST00000379743.4_Missense_Mutation_p.V340L|POSTN_ENST00000379742.4_Missense_Mutation_p.V340L|POSTN_ENST00000541481.1_Missense_Mutation_p.V340L|POSTN_ENST00000379749.4_Missense_Mutation_p.V340L	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	340	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATTCCATTTACTGTTATACTG	0.383000													13	48					7.03913e-09	9.40416e-09	1	1	0
HECW1	23072	broad.mit.edu	37	7	43590133	43590133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:43590133G>A	ENST00000395891.1	+	27	4943	c.4338G>A	c.(4336-4338)tgG>tgA	p.W1446*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.W1412*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1446	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGTGAAGTGGCGGGTGGAGC	0.612000													4	32					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206641191	206641191	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:206641191C>A	ENST00000357118.4	+	16	2678	c.2647C>A	c.(2647-2649)Ctg>Atg	p.L883M	NRP2_ENST00000412873.2_Intron|NRP2_ENST00000272849.3_Missense_Mutation_p.L888M|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000540841.1_Intron	NM_201267.1	NP_957719.1	O60462	NRP2_HUMAN	neuropilin 2	0					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CGGGGCCCCTCTGGCGGTGGA	0.587000											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	95					2.77807e-22	4.69454e-22	1	1	0
CMKLR1	1240	broad.mit.edu	37	12	108685800	108685800	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:108685800T>A	ENST00000397688.2	-	3	1303	c.934A>T	c.(934-936)Att>Ttt	p.I312F	CMKLR1_ENST00000412676.1_Missense_Mutation_p.I314F|CMKLR1_ENST00000552995.1_Missense_Mutation_p.I312F|CMKLR1_ENST00000550402.1_Missense_Mutation_p.I314F|CMKLR1_ENST00000312143.7_Missense_Mutation_p.I314F	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	314					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ACATACAGAATGGGGTTCATG	0.542000													13	59					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606651	84606651	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:84606651G>T	ENST00000344803.2	+	4	1313	c.1266G>T	c.(1264-1266)agG>agT	p.R422S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCAAAAAAAGGGGTGATTTCC	0.428000													23	23					2.27731e-05	2.67544e-05	1	1	0
FBN3	84467	broad.mit.edu	37	19	8180431	8180431	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:8180431T>C	ENST00000600128.1	-	30	4220	c.3806A>G	c.(3805-3807)tAc>tGc	p.Y1269C	FBN3_ENST00000601739.1_Missense_Mutation_p.Y1269C|FBN3_ENST00000270509.2_Missense_Mutation_p.Y1269C			Q75N90	FBN3_HUMAN	fibrillin 3	1269	EGF-like 18; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTGACCATGTAGCCCAGCTG	0.612000													16	23					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88048269	88048269	+	Splice_Site	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:88048269A>T	ENST00000307808.6	+	14	3302	c.2882_splice	c.e14+1	p.K961_splice	AFF1_ENST00000544085.1_Splice_Site_p.K599_splice|AFF1_ENST00000395146.4_Splice_Site_p.K968_splice	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	961						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGTTTGACAAGTAAGACTTC	0.448000													28	39					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508818	123508818	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:123508818G>T	ENST00000223026.4	+	3	1129	c.491G>T	c.(490-492)aGa>aTa	p.R164I	HYAL4_ENST00000476325.1_Missense_Mutation_p.R164I	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	164					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GATGTTTACAGACAGAAGTCA	0.403000													11	129					0.000673444	0.000740274	1	1	0
LAPTM5	7805	broad.mit.edu	37	1	31212778	31212778	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:31212778C>T	ENST00000294507.3	-	4	339	c.265G>A	c.(265-267)Gag>Aag	p.E89K		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	89					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTACTTCTCCCGGTTCTGA	0.592000													11	22					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130206496	130206496	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:130206496G>C	ENST00000342483.5	+	5	923	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	ZNF79_ENST00000543471.1_Missense_Mutation_p.E149Q	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						TCGCAAATGTGAGACACACAC	0.498000													32	57					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30900213	30900213	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:30900213C>A	ENST00000597505.1	-	36	5269	c.5270G>T	c.(5269-5271)cGa>cTa	p.R1757L				P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTGCTGCCTTCGGATTCTGGC	0.413000													22	30					7.41877e-09	9.9048e-09	1	1	0
TEKT1	83659	broad.mit.edu	37	17	6716158	6716158	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:6716158G>C	ENST00000338694.2	-	6	973	c.844C>G	c.(844-846)Ctg>Gtg	p.L282V	TEKT1_ENST00000535086.1_Missense_Mutation_p.L136V	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	282					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACCTTGGCCAGATGATCAGCC	0.537000													5	83					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935697	151935697	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:151935697G>A	ENST00000393902.3	-	3	1037	c.470C>T	c.(469-471)tCc>tTc	p.S157F	MAGEA3_ENST00000370278.3_Missense_Mutation_p.S157F			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	157	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTGCAAGGAACTGGAAGC	0.547000													16	103					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127624176	127624176	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:127624176G>C	ENST00000508053.1	-	59	7685	c.6711C>G	c.(6709-6711)tgC>tgG	p.C2237W	FBN2_ENST00000262464.4_Missense_Mutation_p.C2237W			P35556	FBN2_HUMAN	fibrillin 2	2237	EGF-like 37; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATTGCAATTGCATTCAAAAC	0.373000													7	54					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182871591	182871591	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:182871591C>A	ENST00000265598.3	-	2	893	c.638G>T	c.(637-639)gGg>gTg	p.G213V	LAMP3_ENST00000466939.1_Missense_Mutation_p.G189V	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	213	Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AAGGGTGGGCCCAGGAACCGT	0.557000													16	105					6.72482e-11	9.53393e-11	1	1	0
EIF4A3	9775	broad.mit.edu	37	17	78112900	78112900	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:78112900G>A	ENST00000269349.3	-	7	869	c.648C>T	c.(646-648)ctC>ctT	p.L216L		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	216	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGGCACTGATGAGAACCACCT	0.527000													5	61					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27421013	27421013	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:27421013C>A	ENST00000211936.6	-	6	609	c.325G>T	c.(325-327)Gtg>Ttg	p.V109L	ZNF184_ENST00000377419.1_Missense_Mutation_p.V109L	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGGGCTGACACACTATTTTCA	0.368000													16	71					8.60227e-14	1.29807e-13	1	1	0
LEPREL1	55214	broad.mit.edu	37	3	189713232	189713232	+	Splice_Site	SNP	C	C	G	rs76328021		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:189713232C>G	ENST00000319332.5	-	2	678		c.e2-1		LEPREL1_ENST00000427335.2_Splice_Site	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1						collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCTGGTTAAGCTAAAGAGAAA	0.378000													6	35					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66931264	66931264	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:66931264G>T	ENST00000374690.3	+	4	2430	c.1906G>T	c.(1906-1908)Ggt>Tgt	p.G636C	AR_ENST00000396044.3_Missense_Mutation_p.G636C|AR_ENST00000396043.2_Missense_Mutation_p.G104C	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	635	Interaction with HIPK3 (By similarity).|Interaction with MYST2.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GAAGAAACTTGGTAATCTGAA	0.458000									Androgen Insensitivity Syndrome				3	9					0.004672	0.00494163	1	1	0
TMEM139	135932	broad.mit.edu	37	7	142983285	142983285	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:142983285G>A	ENST00000359333.3	+	2	748	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	TMEM139_ENST00000409102.1_Missense_Mutation_p.G79S|TMEM139_ENST00000471161.1_Intron|TMEM139_ENST00000409541.1_Missense_Mutation_p.G79S|TMEM139_ENST00000410004.1_Missense_Mutation_p.G79S|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409244.1_Missense_Mutation_p.G79S	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	79						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					AGGGCCCTCAGGCAATGCACG	0.567000													43	79					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939426	22939426	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:22939426C>A	ENST00000397104.3	-	7	2744	c.2745G>T	c.(2743-2745)ccG>ccT	p.P915P						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACATTTGTACGGTTTCTCCC	0.368000													17	33					1.02788e-11	1.48973e-11	1	1	0
RALGAPA2	57186	broad.mit.edu	37	20	20493372	20493372	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:20493372T>A	ENST00000202677.6	-	32	4783	c.4641A>T	c.(4639-4641)ctA>ctT	p.L1547L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1547					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CACATGGGGTTAGGGAAGGTT	0.418000													17	108					0	0	1	0	0
C17orf58	284018	broad.mit.edu	37	17	65989128	65989128	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:65989128A>T	ENST00000536693.1	-	1	540	c.135T>A	c.(133-135)taT>taA	p.Y45*	C17orf58_ENST00000449250.2_Intron|C17orf58_ENST00000334461.7_Nonsense_Mutation_p.Y45*			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	0										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TATAAAGTACATATGCAGCGT	0.502000													27	54					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037810	75037810	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:75037810T>C	ENST00000326665.5	-	14	3802	c.3584A>G	c.(3583-3585)gAg>gGg	p.E1195G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1195	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTGGACAGCTCTTCTCTGTC	0.542000													60	107					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112454580	112454580	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:112454580C>A	ENST00000230538.7	-	27	4064	c.3667G>T	c.(3667-3669)Gtt>Ttt	p.V1223F	LAMA4_ENST00000389463.4_Missense_Mutation_p.V1216F|LAMA4_ENST00000522006.1_Missense_Mutation_p.V1216F|LAMA4_ENST00000424408.2_Missense_Mutation_p.V1216F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1223	Laminin G-like 2.				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)		CCATAACCAACTCCCAGGGTT	0.423000													34	65					2.04263e-09	2.77677e-09	1	1	0
SNORD114-26	767606	broad.mit.edu	37	14	101453434	101453434	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:101453434G>T	ENST00000363543.1	+	0	52					NR_003219.1																						ATGAATACGTGTCTGGAACTC	0.378000													30	78					5.45727e-16	8.48908e-16	1	1	0
RASIP1	54922	broad.mit.edu	37	19	49225213	49225213	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:49225213C>A	ENST00000222145.4	-	11	2794	c.2590G>T	c.(2590-2592)Gcc>Tcc	p.A864S		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	864	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm		p.A864T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TGCAGCTGGGCGGGGGTCAAG	0.647000													11	61					0.000673444	0.000740274	1	1	0
CCDC30	728621	broad.mit.edu	37	1	43021938	43021938	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:43021938G>T	ENST00000428554.2	+	12	1680	c.537G>T	c.(535-537)atG>atT	p.M179I	CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000340612.4_Missense_Mutation_p.M179I|CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.M179I			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	179										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ATCGAGATATGAAAGATGAAG	0.448000													8	40					0.27861	0.279581	1	1	0
HIST1H2BM	8342	broad.mit.edu	37	6	27782880	27782880	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:27782880A>G	ENST00000359465.4	+	1	59	c.59A>G	c.(58-60)aAc>aGc	p.N20S		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	20					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						AAGGCCATTAACAAGGCTCAG	0.493000													13	184					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	232879677	232879677	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:232879677G>T	ENST00000325385.7	+	2	316	c.40G>T	c.(40-42)Ggg>Tgg	p.G14W	DIS3L2_ENST00000409307.1_Missense_Mutation_p.G14W|DIS3L2_ENST00000273009.6_Missense_Mutation_p.G14W|AC105461.1_ENST00000413841.1_RNA|DIS3L2_ENST00000409401.3_Missense_Mutation_p.G14W|DIS3L2_ENST00000360410.4_Missense_Mutation_p.G14W	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	14							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CCGGCCCCTGGGGACCCCCAG	0.493000													5	37					0.014758	0.0152889	1	1	0
LIN9	286826	broad.mit.edu	37	1	226438584	226438584	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:226438584G>A	ENST00000328205.5	-	11	1668	c.1123C>T	c.(1123-1125)Cat>Tat	p.H375Y	LIN9_ENST00000366801.1_Missense_Mutation_p.H324Y|LIN9_ENST00000481685.1_Missense_Mutation_p.H340Y	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	359					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTCTTGATATGTTCCTTTTTA	0.269000													3	29					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884208	228884208	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:228884208C>A	ENST00000392056.3	-	7	1408	c.1362G>T	c.(1360-1362)caG>caT	p.Q454H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q454H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	454						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATCTGGACTCTGAACAACGA	0.502000													20	77					3.99206e-14	6.05567e-14	1	1	0
C3orf30	152405	broad.mit.edu	37	3	118865578	118865578	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:118865578G>C	ENST00000295622.1	+	1	582	c.542G>C	c.(541-543)aGa>aCa	p.R181T		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	181										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACCGACCACAGAATGGCAGGC	0.522000													35	54					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51446129	51446129	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:51446129C>G	ENST00000298355.3	-	9	3167	c.2046G>C	c.(2044-2046)gcG>gcC	p.A682A	TRIM9_ENST00000338969.5_Silent_p.A763A	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	682	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCAGGCTGACCGCAGGGAAGA	0.498000													51	128					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679356	219679356	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:219679356G>A	ENST00000258415.4	+	8	1779	c.1352G>A	c.(1351-1353)aGa>aAa	p.R451K		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	451					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CGCTGGCTGAGAAACAGCCAG	0.607000													22	55					0	0	1	0	0
LEP	3952	broad.mit.edu	37	7	127892122	127892122	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:127892122C>T	ENST00000308868.4	+	2	102	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	17					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						CCTATCTTTTCTATGTCCAAG	0.478000													10	218					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2883648	2883648	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:2883648C>G	ENST00000254695.8	+	9	754	c.664C>G	c.(664-666)Cag>Gag	p.Q222E	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.Q203E|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.Q222E|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.Q207E	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	222					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGTGTCCCTCAGATTGCAAA	0.557000													3	30					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369917	86369917	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:86369917C>A	ENST00000400286.2	-	2	1325	c.727G>T	c.(727-729)Ggt>Tgt	p.G243C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	243	LRRCT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ACAACATCACCAATTATAGAC	0.398000													84	79					3.23364e-46	5.72345e-46	1	1	0
CMKLR1	1240	broad.mit.edu	37	12	108685961	108685961	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:108685961T>C	ENST00000397688.2	-	3	1142	c.773A>G	c.(772-774)aAg>aGg	p.K258R	CMKLR1_ENST00000412676.1_Missense_Mutation_p.K260R|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K258R|CMKLR1_ENST00000550402.1_Missense_Mutation_p.K260R|CMKLR1_ENST00000312143.7_Missense_Mutation_p.K260R	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	260					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CACAATAATCTTGAAGGGCTT	0.547000													13	40					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107073498	107073498	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:107073498C>A	ENST00000409886.3	-	4	421	c.334G>T	c.(334-336)Gga>Tga	p.G112*	RGPD3_ENST00000304514.7_Nonsense_Mutation_p.G112*	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	112					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCTGCTCTTCCATCAGTAACA	0.343000													28	124					1.30091e-30	2.25312e-30	1	1	0
PLAT	5327	broad.mit.edu	37	8	42040260	42040260	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:42040260G>A	ENST00000220809.4	-	8	1036	c.780C>T	c.(778-780)ggC>ggT	p.G260G	PLAT_ENST00000524009.1_Silent_p.G171G|PLAT_ENST00000429089.2_Silent_p.G260G|PLAT_ENST00000270189.6_Silent_p.G260G|PLAT_ENST00000519510.1_Silent_p.G197G|PLAT_ENST00000352041.3_Silent_p.G214G|PLAT_ENST00000429710.2_Silent_p.G134G	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	260	Kringle 2.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GTTTGCCCAGGCCCAGTGCCT	0.582000													6	110					0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35869979	35869979	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:35869979G>A	ENST00000377981.2	-	1	482	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	140					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)			GCAGCACGCAGAGCCGGTGGC	0.637000													18	57					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133473450	133473450	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:133473450G>T	ENST00000402696.3	+	4	922	c.437G>T	c.(436-438)gGg>gTg	p.G146V	TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.G19V	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	146	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AGGTCCGCTGGGTGGAACATC	0.532000													72	162					4.66136e-34	8.12916e-34	1	1	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101145	27101145	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:27101145G>T	ENST00000359193.2	+	1	314	c.295G>T	c.(295-297)Ggc>Tgc	p.G99C		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	99					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CAAGCTGCTGGGCAAAGTCAC	0.602000													27	118					7.07758e-08	9.18764e-08	1	1	0
C11orf63	79864	broad.mit.edu	37	11	122775027	122775027	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:122775027C>T	ENST00000227349.2	+	3	1036	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	C11orf63_ENST00000531316.1_Missense_Mutation_p.R247W|C11orf63_ENST00000307257.6_Missense_Mutation_p.R247W	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	247								p.R247W(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACGTGGCCCTCGGCGAAGGAA	0.478000													74	130					0	0	1	0	0
IFT20	90410	broad.mit.edu	37	17	26657479	26657479	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:26657479T>C	ENST00000585089.1	-	4	551	c.281A>G	c.(280-282)gAa>gGa	p.E94G	IFT20_ENST00000585313.1_Missense_Mutation_p.E68G|IFT20_ENST00000578985.1_Missense_Mutation_p.E94G|IFT20_ENST00000395418.3_Missense_Mutation_p.E68G|IFT20_ENST00000579419.1_Missense_Mutation_p.E68G|IFT20_ENST00000578122.1_Missense_Mutation_p.E94G|IFT20_ENST00000357896.3_Missense_Mutation_p.E68G	NM_001267774.1	NP_001254703.1	Q8IY31	IFT20_HUMAN	intraflagellar transport 20 homolog (Chlamydomonas)	68	IFT57-binding (By similarity).				cell projection organization	centriole|cilium|Golgi apparatus|microtubule basal body	protein binding			lung(2)	2	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CTTCATCTTTTCATTTTCTGC	0.388000													6	101					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66472379	66472379	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:66472379G>A	ENST00000533211.1	-	15	2699	c.2368C>T	c.(2368-2370)Cgg>Tgg	p.R790W	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R790W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R790W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	790					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCAGGGCCCGATGCTGCCTG	0.672000													20	48					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53698861	53698861	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:53698861C>G	ENST00000262135.4	-	10	1257	c.1164G>C	c.(1162-1164)caG>caC	p.Q388H	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.Q388H|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.Q388H|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.Q388H	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	388					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCTGAGCAATCTGCACTTTCA	0.428000													14	71					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760504	176760504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:176760504G>T	ENST00000367662.3	+	19	6070	c.4906G>T	c.(4906-4908)Gag>Tag	p.E1636*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1636	Sushi 4.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGCACTAAAGAGGGCCTGTG	0.408000													12	48					5.50884e-06	6.63826e-06	1	1	0
CLCN6	1185	broad.mit.edu	37	1	11898489	11898489	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:11898489G>T	ENST00000346436.6	+	21	2445	c.2393G>T	c.(2392-2394)cGc>cTc	p.R798L	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.R798L|CLCN6_ENST00000376487.3_Missense_Mutation_p.R776L	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	798					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAACCCGCGCATGATCGTG	0.657000											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	37					9.31168e-06	1.1174e-05	1	1	0
MTMR1	8776	broad.mit.edu	37	X	149887136	149887136	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:149887136G>T	ENST00000445323.2	+	4	437	c.316G>T	c.(316-318)Gct>Tct	p.A106S	MTMR1_ENST00000451863.2_Missense_Mutation_p.A98S|MTMR1_ENST00000542156.1_Missense_Mutation_p.A98S|MTMR1_ENST00000544228.1_Missense_Mutation_p.A98S|MTMR1_ENST00000541925.1_Missense_Mutation_p.A4S|MTMR1_ENST00000370390.3_Missense_Mutation_p.A98S			Q13613	MTMR1_HUMAN	myotubularin related protein 1	98	GRAM.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GATGGAAGAGGCTCCACTTTT	0.348000													7	13					0.00198382	0.00212846	1	1	0
SYNRG	11276	broad.mit.edu	37	17	35913973	35913973	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:35913973C>G	ENST00000339208.6	-	14	1992	c.1852G>C	c.(1852-1854)Gat>Cat	p.D618H	SYNRG_ENST00000502449.2_Missense_Mutation_p.D540H|SYNRG_ENST00000394378.2_Missense_Mutation_p.D540H|SYNRG_ENST00000346661.4_Missense_Mutation_p.D618H|SYNRG_ENST00000591288.1_Missense_Mutation_p.D457H|SYNRG_ENST00000585472.1_Missense_Mutation_p.D539H|SYNRG_ENST00000345615.4_Missense_Mutation_p.D540H|SYNRG_ENST00000588194.1_5'UTR	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	618	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAAAACATATCTAGGTCTGCT	0.398000													22	201					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102449535	102449535	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:102449535G>T	ENST00000360184.4	+	6	1305	c.1141G>T	c.(1141-1143)Gtg>Ttg	p.V381L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	381	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACTGCGTTTGGTGGAGGCAAT	0.393000													13	43					4.3838e-07	5.49269e-07	1	1	0
SLC7A7	9056	broad.mit.edu	37	14	23243652	23243652	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:23243652T>A	ENST00000397532.3	-	8	1681	c.1156A>T	c.(1156-1158)Agc>Tgc	p.S386C	SLC7A7_ENST00000397528.4_Missense_Mutation_p.S386C|SLC7A7_ENST00000555702.1_Missense_Mutation_p.S386C|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000554517.1_Missense_Mutation_p.S120C|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S386C|SLC7A7_ENST00000285850.7_Missense_Mutation_p.S386C			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	386			S -> R (in LPI; failed to induce cationic amino acid transport activity).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TAGCTGAAGCTGTAGTAGTTA	0.498000													41	181					0	0	1	0	0
STRAP	11171	broad.mit.edu	37	12	16035650	16035650	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:16035650G>T	ENST00000419869.2	+	1	322	c.9G>T	c.(7-9)atG>atT	p.M3I	STRAP_ENST00000025399.6_Missense_Mutation_p.M3I|STRAP_ENST00000538352.1_5'UTR	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	3					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CCATGGCAATGAGACAGACGC	0.607000													4	24					0.00909568	0.00950591	1	1	0
TNXB	7148	broad.mit.edu	37	6	32021388	32021388	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:32021388G>T	ENST00000375244.3	-	25	8769	c.8568C>A	c.(8566-8568)acC>acA	p.T2856T	TNXB_ENST00000375247.2_Silent_p.T2854T			P22105	TENX_HUMAN	tenascin XB	2903	Fibronectin type-III 20.				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						GGGAGTCAGGGGTGGCATCTG	0.642000													23	46					5.26018e-13	7.82044e-13	1	1	0
PTPN14	5784	broad.mit.edu	37	1	214557043	214557043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:214557043C>A	ENST00000366956.5	-	13	2349	c.2155G>T	c.(2155-2157)Gaa>Taa	p.E719*	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	719					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGCACCGATTCTGGAGCCTCC	0.617000													15	52					7.81268e-19	1.2743e-18	1	1	0
LPPR1	54886	broad.mit.edu	37	9	104071593	104071593	+	Silent	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:104071593A>T	ENST00000374874.3	+	5	925	c.486A>T	c.(484-486)ccA>ccT	p.P162P	LPPR1_ENST00000395056.2_Silent_p.P162P	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		162						integral to membrane	catalytic activity										TGTGCAAGCCAAACTACACCA	0.478000													19	93					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776477	5776477	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:5776477C>T	ENST00000317254.3	+	1	555	c.507C>T	c.(505-507)ccC>ccT	p.P169P	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AGCTCCTGCCCTACTGCAGAG	0.468000													33	79					0	0	1	0	0
KLRC1	3821	broad.mit.edu	37	12	10601972	10601972	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:10601972T>A	ENST00000544822.1	-	6	740	c.353A>T	c.(352-354)cAt>cTt	p.H118L	KLRC1_ENST00000347831.5_Missense_Mutation_p.H100L|KLRC1_ENST00000408006.3_Missense_Mutation_p.H100L|KLRC1_ENST00000536188.1_Missense_Mutation_p.H118L|KLRC1_ENST00000359151.3_Missense_Mutation_p.H118L	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	118	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CTCAGGACAATGGCCACAATG	0.343000													136	149					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160978566	160978566	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:160978566C>A	ENST00000447678.1	-	30	4789	c.4669G>T	c.(4669-4671)Ggg>Tgg	p.G1557W	LPA_ENST00000316300.5_Missense_Mutation_p.G1557W	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4065	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGTTGTTTCCCAGAATCTGGA	0.507000													14	74					1.5842e-08	2.10253e-08	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126135372	126135372	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:126135372G>T	ENST00000299308.3	+	7	1780	c.1772G>T	c.(1771-1773)gGc>gTc	p.G591V	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G103V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	591						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TACATGCTGGGCCCCGACTGG	0.597000													20	43					3.51602e-12	5.15887e-12	1	1	0
ZNF8	7554	broad.mit.edu	37	19	58806302	58806302	+	Silent	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:58806302A>G	ENST00000196548.5	+	4	1259	c.1128A>G	c.(1126-1128)aaA>aaG	p.K376K	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TGTGTGGGAAATCCTTCTCTC	0.587000													13	77					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49063317	49063317	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:49063317C>A	ENST00000376265.2	-	45	5326		c.e45-1		CACNA1F_ENST00000323022.5_Splice_Site|CACNA1F_ENST00000376251.1_Splice_Site	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit						axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTAGGAAAGCCTGTGTGGGTG	0.627000													8	9					5.68852e-11	8.08179e-11	1	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49281666	49281666	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:49281666T>A	ENST00000282018.3	+	1	716	c.713T>A	c.(712-714)cTg>cAg	p.L238Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	238					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GAATCGGGGCTGCGGGTTTCT	0.517000													26	85					0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39591685	39591685	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:39591685C>A	ENST00000331256.5	+	8	1178	c.904C>A	c.(904-906)Cat>Aat	p.H302N	PAPL_ENST00000594229.1_Missense_Mutation_p.D260E	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		302						extracellular region	acid phosphatase activity|metal ion binding										CTGCACACGACATGAAAGCAA	0.602000													37	52					2.20474e-14	3.36468e-14	1	1	0
ROBO4	54538	broad.mit.edu	37	11	124765723	124765723	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:124765723T>A	ENST00000306534.3	-	5	1250	c.765A>T	c.(763-765)gcA>gcT	p.A255A	ROBO4_ENST00000533054.1_Silent_p.A110A|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	255	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGGGGCCCTCTGCAGGATCCG	0.592000													17	54					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	629550	629550	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:629550C>G	ENST00000588649.2	-	3	896	c.812G>C	c.(811-813)tGg>tCg	p.W271S		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	271					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCGCGCCCAGCCAAGCAT	0.647000													35	129					0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113266928	113266928	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:113266928G>A	ENST00000303941.3	+	5	916	c.822G>A	c.(820-822)aaG>aaA	p.K274K		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	274	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ACCCCAAGAAGAGGCCATGCT	0.632000													14	92					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55151575	55151575	+	Silent	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:55151575A>T	ENST00000257290.5	+	17	2692	c.2361A>T	c.(2359-2361)tcA>tcT	p.S787S	FIP1L1_ENST00000507166.1_Silent_p.S547S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	787	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATGATAACTCAGAAGGCCTTA	0.413000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			24	39					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249210883	249210883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:249210883G>T	ENST00000539153.1	+	4	346	c.91G>T	c.(91-93)Gag>Tag	p.E31*	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Nonsense_Mutation_p.E34*			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	34										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGAGGAGGAAGAGTCCAACAA	0.498000													28	76					1.2476e-16	1.97577e-16	1	1	0
CAMK2B	816	broad.mit.edu	37	7	44280317	44280317	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:44280317C>A	ENST00000395749.2	-	12	1011	c.935G>T	c.(934-936)cGg>cTg	p.R312L	CAMK2B_ENST00000457475.1_Missense_Mutation_p.R312L|CAMK2B_ENST00000358707.3_Missense_Mutation_p.R312L|CAMK2B_ENST00000346990.4_Missense_Mutation_p.R312L|CAMK2B_ENST00000347193.4_Missense_Mutation_p.R312L|CAMK2B_ENST00000395747.2_Missense_Mutation_p.R312L|CAMK2B_ENST00000502837.2_Missense_Mutation_p.R183L|CAMK2B_ENST00000258682.6_Missense_Mutation_p.R312L|CAMK2B_ENST00000440254.2_Missense_Mutation_p.R312L|CAMK2B_ENST00000350811.3_Missense_Mutation_p.R312L|CAMK2B_ENST00000353625.4_Missense_Mutation_p.R312L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	312					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGAGAAATTCCGTGTGGCCAG	0.612000													10	26					0.000442599	0.000489726	1	1	0
LRRC16A	55604	broad.mit.edu	37	6	25488758	25488758	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:25488758C>G	ENST00000329474.6	+	13	1378	c.1010C>G	c.(1009-1011)tCt>tGt	p.S337C		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	337					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTGACCGCCTCTACCCTTGTC	0.468000													11	141					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962886	34962886	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:34962886G>A	ENST00000329357.5	+	1	1974	c.1938G>A	c.(1936-1938)taG>taA	p.*646*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	0										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAGAAGATTAGATGGTTTTCA	0.383000													25	54					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71571192	71571192	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:71571192C>A	ENST00000395275.2	-	4	720	c.332G>T	c.(331-333)gGg>gTg	p.G111V	CALN1_ENST00000395276.2_Missense_Mutation_p.G69V|CALN1_ENST00000329008.5_Missense_Mutation_p.G69V|CALN1_ENST00000431984.1_Missense_Mutation_p.G69V|CALN1_ENST00000412588.1_Missense_Mutation_p.G111V|CALN1_ENST00000405452.2_Missense_Mutation_p.G69V	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	69						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGCATGTACCCCAAAGAGCG	0.582000													7	25					0.0381472	0.0390578	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77415180	77415180	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:77415180G>T	ENST00000451710.3	-	17	2465	c.2228C>A	c.(2227-2229)tCt>tAt	p.S743Y	TRPM6_ENST00000449912.2_Missense_Mutation_p.S738Y|TRPM6_ENST00000376864.4_Missense_Mutation_p.S743Y|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.S738Y|TRPM6_ENST00000360774.1_Missense_Mutation_p.S743Y			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	743					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTTAACCAAGAGTTTTTCCT	0.393000													14	26					3.27435e-08	4.28643e-08	1	1	0
DBR1	51163	broad.mit.edu	37	3	137880800	137880800	+	Silent	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:137880800T>C	ENST00000260803.4	-	8	1719	c.1566A>G	c.(1564-1566)agA>agG	p.R522R	DBR1_ENST00000505015.2_Silent_p.R288R	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	522						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TAATTTTCTTTCTTTGTTCAG	0.433000													17	114					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328505	152328505	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:152328505C>G	ENST00000388718.5	-	3	1829	c.1757G>C	c.(1756-1758)gGc>gCc	p.G586A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	586	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACCTGAGCCCGATCCATA	0.512000													89	609					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148544312	148544312	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:148544312T>A	ENST00000320356.2	-	2	200	c.79A>T	c.(79-81)Aga>Tga	p.R27*	EZH2_ENST00000476773.1_Nonsense_Mutation_p.R27*|EZH2_ENST00000483967.1_Nonsense_Mutation_p.R27*|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000478654.1_Nonsense_Mutation_p.R27*|EZH2_ENST00000350995.2_Nonsense_Mutation_p.R27*|EZH2_ENST00000541220.1_Nonsense_Mutation_p.R27*|EZH2_ENST00000460911.1_Nonsense_Mutation_p.R27*	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	27	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTGAGCTGTCTCAGTCGCATG	0.393000			Mis		DLBCL								39	178					0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1272688	1272688	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:1272688A>T	ENST00000234798.4	-	4	479	c.475T>A	c.(475-477)Tgc>Agc	p.C159S		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	159	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GTCACCCAGCACCGGATCCCA	0.682000													24	102					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49755625	49755625	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:49755625G>C	ENST00000535833.1	-	10	4724	c.1274C>G	c.(1273-1275)cCg>cGg	p.P425R	RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000320431.7_Missense_Mutation_p.P425R|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	425					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCTTGGAGCGGGCTGGGTGT	0.682000													18	71					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151878315	151878315	+	Silent	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:151878315T>C	ENST00000355193.2	-	36	6848	c.6630A>G	c.(6628-6630)ccA>ccG	p.P2210P	KMT2C_ENST00000262189.6_Silent_p.P2210P					lysine (K)-specific methyltransferase 2C																		TTCCAGGTCTTGGTGTTCCAG	0.473000													17	59					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115856464	115856464	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:115856464C>G	ENST00000264363.2	-	6	2112	c.1434G>C	c.(1432-1434)ttG>ttC	p.L478F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	478	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTGAGTGAACAACCCACAAG	0.408000													20	35					0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1586709	1586709	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:1586709T>A	ENST00000297477.5	-	9	1437	c.1121A>T	c.(1120-1122)tAc>tTc	p.Y374F		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	374						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTGCTGCGTGTAGTGCTGGTA	0.692000													14	23					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53573327	53573327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:53573327C>A	ENST00000601421.1	-	3	1228	c.352G>T	c.(352-354)Gga>Tga	p.G118*	ZNF160_ENST00000429604.1_Nonsense_Mutation_p.G154*|ZNF160_ENST00000418871.1_Nonsense_Mutation_p.G154*|ZNF160_ENST00000599056.1_Nonsense_Mutation_p.G154*			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	154					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ATAAGCACTCCCTTGTAATTT	0.413000													59	107					3.53049e-34	6.1623e-34	1	1	0
MUC16	94025	broad.mit.edu	37	19	8976393	8976393	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:8976393G>T	ENST00000397910.4	-	75	42638	c.42435C>A	c.(42433-42435)acC>acA	p.T14145T	MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Silent_p.T786T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14176	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTAGGTGCAGGTGGTGTCCA	0.602000													10	19					1.76689e-08	2.33731e-08	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25417700	25417700	+	RNA	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:25417700A>T	ENST00000549301.1	+	0	478				SNHG14_ENST00000553149.1_RNA																							CCTCCCTGGCACTCTGGTCTC	0.627000													16	54					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798758	57798758	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:57798758G>C	ENST00000302622.3	+	1	357	c.334G>C	c.(334-336)Ggg>Cgg	p.G112R	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CACCTTTCTTGGGGCAACTGA	0.502000													27	99					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237922	56237922	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:56237922G>T	ENST00000312240.2	-	1	92	c.52C>A	c.(52-54)Cgt>Agt	p.R18S		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CATTCTCGACGGCTCGTTAGC	0.398000													11	64					3.07112e-06	3.73875e-06	1	1	0
TRPM7	54822	broad.mit.edu	37	15	50866543	50866543	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:50866543C>G	ENST00000313478.7	-	36	5517	c.5236G>C	c.(5236-5238)Gag>Cag	p.E1746Q	TRPM7_ENST00000560955.1_Missense_Mutation_p.E1745Q|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1746	Alpha-type protein kinase.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGCATGATCTCTTCCAGAGTA	0.363000													13	66					0	0	1	0	0
MTMR9	66036	broad.mit.edu	37	8	11157544	11157544	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:11157544C>G	ENST00000221086.3	+	3	777	c.304C>G	c.(304-306)Ctg>Gtg	p.L102V	MTMR9_ENST00000526292.1_Missense_Mutation_p.L17V	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	102						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ATTGTCTACTCTGGACTCCAT	0.388000													27	72					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26793245	26793245	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:26793245C>A	ENST00000541819.2	-	10	1387	c.1285G>T	c.(1285-1287)Gaa>Taa	p.E429*	GABRB3_ENST00000400188.3_Nonsense_Mutation_p.E302*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.E373*|GABRB3_ENST00000311550.5_Nonsense_Mutation_p.E373*|GABRB3_ENST00000545868.1_Nonsense_Mutation_p.E288*			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	373					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTGTGAACTTCCAGCGATGTC	0.453000													13	115					9.31168e-06	1.1174e-05	1	1	0
RELN	5649	broad.mit.edu	37	7	103180698	103180698	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:103180698G>A	ENST00000428762.1	-	44	7035	c.6876C>T	c.(6874-6876)cgC>cgT	p.R2292R	RELN_ENST00000424685.2_Silent_p.R2292R|RELN_ENST00000343529.5_Silent_p.R2292R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2292					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTTGCCACCAGCGAAGGCGAG	0.498000													38	62					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010784	78010784	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:78010784A>T	ENST00000435339.2	+	2	823	c.418A>T	c.(418-420)Att>Ttt	p.I140F	LPAR4_ENST00000373301.2_Missense_Mutation_p.I140F	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	140						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTTCCTGGCCATTGTCTATCC	0.478000													26	35					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169146820	169146820	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:169146820A>C	ENST00000393743.3	-	34	4832	c.4541T>G	c.(4540-4542)cTt>cGt	p.L1514R		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1514							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GAGATCATCAAGGAACACCTA	0.348000													5	40					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68170321	68170321	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:68170321C>A	ENST00000262215.3	-	16	2829	c.2441_splice	c.e16+1	p.G814_splice	ARFGEF1_ENST00000520381.1_Splice_Site_p.G268_splice	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	814	SEC7.				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTTATTTACCCTTGGTTGCAT	0.403000													13	37					0.00185496	0.002003	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136269	40136269	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:40136269G>A	ENST00000278198.2	-	2	3537	c.1574C>T	c.(1573-1575)aCt>aTt	p.T525I	LRRC4C_ENST00000530763.1_Missense_Mutation_p.T525I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T525I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T525I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	525					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GATTTTGGTAGTCTTCATGAC	0.468000													12	65					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237957256	237957256	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:237957256T>A	ENST00000366574.2	+	95	14189	c.13872T>A	c.(13870-13872)gaT>gaA	p.D4624E	RYR2_ENST00000542537.1_Missense_Mutation_p.D4608E|RYR2_ENST00000360064.6_Missense_Mutation_p.D4630E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4624					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)			CTTCAGAAGATGATATTAAAG	0.353000													8	27					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691702	106691702	+	RNA	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:106691702C>T	ENST00000390607.2	-	0	400																											GCCGTGTCCTCGGCTCTCAGG	0.542000													21	128					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33046325	33046325	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:33046325G>T	ENST00000280979.4	+	5	2516		c.e5-1		AKAP6_ENST00000557354.1_Splice_Site|AKAP6_ENST00000557272.1_Splice_Site	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6						protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCTTTCACAAGGGGTTTGTAA	0.363000													33	55					1.08312e-15	1.67709e-15	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248113009	248113009	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:248113009C>A	ENST00000357191.3	+	1	850	c.850C>A	c.(850-852)Ctc>Atc	p.L284I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CACCCCAATGCTCAACCCCAT	0.488000													26	95					2.46787e-29	4.26692e-29	1	1	0
CORIN	10699	broad.mit.edu	37	4	47628524	47628524	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:47628524G>A	ENST00000273857.4	-	17	2212	c.2213C>T	c.(2212-2214)aCc>aTc	p.T738I	CORIN_ENST00000505909.1_Missense_Mutation_p.T701I|CORIN_ENST00000515827.1_Intron|CORIN_ENST00000502252.1_Missense_Mutation_p.T671I|CORIN_ENST00000508498.1_Missense_Mutation_p.T599I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	738	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TATCAATTTGGTCACAGATGG	0.408000													22	119					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70370987	70370987	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:70370987G>C	ENST00000377844.4	-	7	2281	c.1522C>G	c.(1522-1524)Ctc>Gtc	p.L508V	KLHL1_ENST00000545028.1_Missense_Mutation_p.L315V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	508					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATTACAAAGAGTTTGTCATCA	0.413000													42	104					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28903806	28903806	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:28903806T>C	ENST00000282397.4	-	19	2904	c.2653A>G	c.(2653-2655)Att>Gtt	p.I885V	FLT1_ENST00000540678.1_Missense_Mutation_p.I103V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	885	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGGTGGCCAATGTGGGTCAAG	0.577000													6	24					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147902826	147902826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:147902826C>T	ENST00000360693.3	-	5	575	c.437G>A	c.(436-438)tGg>tAg	p.W146*	HTR4_ENST00000517929.1_Nonsense_Mutation_p.W146*|HTR4_ENST00000521530.1_Nonsense_Mutation_p.W146*|HTR4_ENST00000362016.2_Nonsense_Mutation_p.W146*|HTR4_ENST00000377888.3_Nonsense_Mutation_p.W146*|HTR4_ENST00000521735.1_Nonsense_Mutation_p.W146*|HTR4_ENST00000314512.6_Nonsense_Mutation_p.W146*|HTR4_ENST00000354217.2_Nonsense_Mutation_p.W146*|HTR4_ENST00000520514.1_Nonsense_Mutation_p.W146*	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	146					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGGGATGACCCAGCAGCCTCC	0.468000													4	40					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390158	158390158	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:158390158G>T	ENST00000314902.2	-	1	498	c.499C>A	c.(499-501)Cct>Act	p.P167T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GAATAAAAAGGCAGGTGAAAT	0.468000													40	123					9.73076e-26	1.67668e-25	1	1	0
CRB2	286204	broad.mit.edu	37	9	126129537	126129537	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:126129537G>C	ENST00000373631.3	+	5	842	c.841G>C	c.(841-843)Gac>Cac	p.D281H	CRB2_ENST00000359999.3_Missense_Mutation_p.D281H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	281	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCAGCGCTCTGACCCGGCCCT	0.692000													8	36					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48807280	48807280	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:48807280G>C	ENST00000315396.7	-	7	1354	c.672C>G	c.(670-672)caC>caG	p.H224Q		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	224				H -> Y (in Ref. 2; BC007730).						cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TGAGGAAGTGGTGCAGCTGCT	0.627000													19	121					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881838	228881838	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:228881838G>T	ENST00000392056.3	-	7	3778	c.3732C>A	c.(3730-3732)tcC>tcA	p.S1244S	SPHKAP_ENST00000344657.5_Silent_p.S1244S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1244						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGAGCATGGGGATCTGCTGT	0.572000													21	70					5.26018e-13	7.82044e-13	1	1	0
IGHV3-21	28444	broad.mit.edu	37	14	106691831	106691831	+	RNA	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:106691831C>G	ENST00000390607.2	-	0	271																											GAGACCCACTCCAGCCCCTTC	0.537000													20	170					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50783814	50783814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:50783814C>T	ENST00000540145.1	+	4	620	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	CYLD_ENST00000398568.2_Nonsense_Mutation_p.Q69*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.Q69*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.Q69*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.Q69*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.Q69*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.Q69*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.Q69*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	69					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAAGAAAAATCAGATTGGATT	0.373000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				12	156					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10404901	10404901	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:10404901C>T	ENST00000379613.3	-	4	866	c.610G>A	c.(610-612)Ggc>Agc	p.G204S	TFAP2A_ENST00000379608.3_Missense_Mutation_p.G196S|TFAP2A_ENST00000319516.4_Missense_Mutation_p.G198S|TFAP2A_ENST00000379604.2_Missense_Mutation_p.G202S|TFAP2A_ENST00000482890.1_Missense_Mutation_p.G202S|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	202					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				ACCACGCCGCCGAAGAGGTTG	0.607000													25	54					0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34956174	34956174	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:34956174C>G	ENST00000251312.5	+	5	869	c.657C>G	c.(655-657)gcC>gcG	p.A219A	DHRS11_ENST00000590554.1_Silent_p.A140A	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	219						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						AGGCAGCTGCCACCTATGAGC	0.567000													13	58					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10417170	10417170	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:10417170T>C	ENST00000226207.5	-	8	803	c.709A>G	c.(709-711)Aag>Gag	p.K237E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	237	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCACGGTCTTGGCGTTGCCA	0.507000													5	59					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91230736	91230736	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:91230736G>C	ENST00000509176.1	+	2	1589	c.1301G>C	c.(1300-1302)gGa>gCa	p.G434A	CCSER1_ENST00000432775.2_Missense_Mutation_p.G434A|CCSER1_ENST00000333691.8_Missense_Mutation_p.G434A	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		ACATCACATGGATATGAAGCA	0.294000													7	32					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112647776	112647776	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:112647776C>G	ENST00000471858.1	-	4	819	c.587G>C	c.(586-588)gGc>gCc	p.G196A	CD200R1_ENST00000490004.1_3'UTR|CD200R1_ENST00000440122.2_3'UTR|CD200R1_ENST00000308611.3_Missense_Mutation_p.G219A|CD200R1_ENST00000295863.4_Missense_Mutation_p.G174A	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	196	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						AGTCACTGTGCCATTGCTCCA	0.517000													20	25					0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51480877	51480877	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:51480877C>T	ENST00000391807.1	-	6	778	c.677G>A	c.(676-678)tGc>tAc	p.C226Y	KLK7_ENST00000597707.1_Missense_Mutation_p.C154Y|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.C226Y|KLK7_ENST00000336317.4_Missense_Mutation_p.C113Y	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	226	Peptidase S1.			C -> W (in Ref. 6; AAH32005).	epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GGGTTGGCCGCAAGGGAAAGT	0.517000													46	52					0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69793923	69793923	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:69793923C>A	ENST00000395198.3	-	6	731	c.484G>T	c.(484-486)Gga>Tga	p.G162*	HERC4_ENST00000277817.6_Nonsense_Mutation_p.G52*|HERC4_ENST00000373700.4_Nonsense_Mutation_p.G162*|HERC4_ENST00000395187.2_Silent_p.G108G|HERC4_ENST00000412272.2_Nonsense_Mutation_p.G162*	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	162					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TTATTCTGTCCCCAACAGAAG	0.338000													12	69					7.93312e-07	9.81778e-07	1	1	0
UBR5	51366	broad.mit.edu	37	8	103358521	103358521	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:103358521C>T	ENST00000520539.1	-	7	1285	c.679G>A	c.(679-681)Gat>Aat	p.D227N	UBR5_ENST00000220959.4_Missense_Mutation_p.D227N|UBR5_ENST00000521922.1_Missense_Mutation_p.D227N	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	227					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTTCATCATCCCGGCTAAGT	0.418000													11	157					0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36608542	36608542	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:36608542G>A	ENST00000265113.4	+	2	493	c.17G>A	c.(16-18)gGa>gAa	p.G6E	SLC1A3_ENST00000381918.3_Missense_Mutation_p.G6E|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	6					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AAAAGCAATGGAGAAGAGCCC	0.463000													15	204					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137990531	137990531	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:137990531T>G	ENST00000409968.1	+	9	2156	c.1978T>G	c.(1978-1980)Tgt>Ggt	p.C660G	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.C629G|THSD7B_ENST00000272643.3_Missense_Mutation_p.C660G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGACCATTCCTGTATGCAGCT	0.483000													12	52					0	0	1	0	0
DRAP1	10589	broad.mit.edu	37	11	65688366	65688366	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:65688366G>T	ENST00000312515.2	+	6	680	c.435G>T	c.(433-435)gaG>gaT	p.E145D	DRAP1_ENST00000376991.2_Missense_Mutation_p.E152D|DRAP1_ENST00000527119.1_Missense_Mutation_p.E101D|DRAP1_ENST00000532933.1_Missense_Mutation_p.E125D	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN	DR1-associated protein 1 (negative cofactor 2 alpha)	145					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		ATGAATCTGAGGACACAGATA	0.577000													5	38					1	1	1	1	0
KRT71	112802	broad.mit.edu	37	12	52943885	52943885	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:52943885A>T	ENST00000267119.5	-	2	653	c.584T>A	c.(583-585)cTg>cAg	p.L195Q		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	195	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GTCCCCAGACAGCGTCTCCAG	0.597000													32	147					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39510009	39510009	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:39510009T>A	ENST00000537403.1	-	14	2665	c.1463A>T	c.(1462-1464)gAt>gTt	p.D488V	SEC23A_ENST00000545328.2_Missense_Mutation_p.D661V|SEC23A_ENST00000536508.1_Missense_Mutation_p.D588V|SEC23A_ENST00000307712.6_Missense_Mutation_p.D690V			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	690					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CTGTGCATCATCCACTGGGGC	0.428000													31	100					0	0	1	0	0
RPL26L1	51121	broad.mit.edu	37	5	172396539	172396539	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:172396539G>A	ENST00000521476.1	+	4	557	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	RPL26L1_ENST00000519239.1_Missense_Mutation_p.E145K|RPL26L1_ENST00000265100.2_Missense_Mutation_p.E145K|RPL26L1_ENST00000519974.1_Missense_Mutation_p.E145K			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	145					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAAATGCAGGAATAAATAGA	0.388000													7	63					0	0	1	0	0
CHMP1A	5119	broad.mit.edu	37	16	89712979	89712979	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:89712979C>A	ENST00000253475.5	-	5	637	c.505G>T	c.(505-507)Ggg>Tgg	p.G169W	CHMP1A_ENST00000397901.3_Silent_p.V175V|CHMP1A_ENST00000535997.2_Silent_p.V111V|CHMP1A_ENST00000550102.1_Silent_p.V166V	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	0					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		AGCTCTCGCCCACGGCAGAGG	0.667000													3	15					0.004672	0.00494163	1	1	0
POLE	5426	broad.mit.edu	37	12	133218935	133218935	+	Silent	SNP	G	G	A	rs112358554	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:133218935G>A	ENST00000320574.5	-	38	5044	c.5001C>T	c.(4999-5001)ttC>ttT	p.F1667F	POLE_ENST00000535270.1_Silent_p.F1640F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1667					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGTCGGAGCCGAATGTGGAGA	0.622000								DNA polymerases (catalytic subunits)					5	40					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693401	94693401	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:94693401C>A	ENST00000282020.4	+	16	3034	c.2776C>A	c.(2776-2778)Cat>Aat	p.H926N	GRID2_ENST00000510992.1_Missense_Mutation_p.H831N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	926	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAGGAACACTCATATTACCAC	0.458000													28	53					1.7367e-05	2.05228e-05	1	1	0
PTPRE	5791	broad.mit.edu	37	10	129875932	129875932	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:129875932C>T	ENST00000254667.3	+	19	2056	c.1777C>T	c.(1777-1779)Cac>Tac	p.H593Y	PTPRE_ENST00000306042.5_Missense_Mutation_p.H535Y|PTPRE_ENST00000419012.2_Missense_Mutation_p.H593Y	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	593	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GTTTCACTTCCACGGCTGGCC	0.657000													6	42					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95557422	95557422	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:95557422C>A	ENST00000526495.1	-	28	5843	c.5552G>T	c.(5551-5553)cGt>cTt	p.R1851L	DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000541352.1_Missense_Mutation_p.V1797F|DICER1_ENST00000527414.1_Missense_Mutation_p.R1851L|DICER1_ENST00000343455.3_Missense_Mutation_p.R1851L|DICER1_ENST00000393063.1_Missense_Mutation_p.R1851L|DICER1_ENST00000556045.1_Missense_Mutation_p.R749L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1851	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CACAGGGGAACGGGGTACATT	0.308000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				16	39					3.45872e-05	4.04923e-05	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62327164	62327164	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:62327164G>A	ENST00000261517.5	-	4	348	c.275C>T	c.(274-276)cCt>cTt	p.P92L	VPS13C_ENST00000249837.3_Missense_Mutation_p.P92L|VPS13C_ENST00000395896.4_Missense_Mutation_p.P92L|VPS13C_ENST00000395898.3_Missense_Mutation_p.P92L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	92					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACTTGCTCCAGGGACAACAAG	0.308000													11	69					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135404984	135404984	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:135404984G>C	ENST00000394143.1	+	5	409	c.118G>C	c.(118-120)Gac>Cac	p.D40H	GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000370652.1_Missense_Mutation_p.D40H|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	40					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGAAGAGGTGACACATATGT	0.388000													34	25					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648338	112648338	+	Silent	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:112648338A>T	ENST00000471858.1	-	3	382	c.150T>A	c.(148-150)ccT>ccA	p.P50P	CD200R1_ENST00000490004.1_Silent_p.P50P|CD200R1_ENST00000440122.2_Silent_p.P73P|CD200R1_ENST00000308611.3_Silent_p.P73P|CD200R1_ENST00000295863.4_Silent_p.P28P	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	50					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CCATCTTTACAGGCCATGAAG	0.368000													38	54					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687487	21687487	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:21687487C>A	ENST00000398485.2	+	2	752	c.698C>A	c.(697-699)cCg>cAg	p.P233Q	PAX1_ENST00000444366.2_Missense_Mutation_p.P209Q|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	233					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CAGCCCGGACCGTACGAGGCA	0.647000													14	75					2.23348e-06	2.72891e-06	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139820032	139820032	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:139820032G>T	ENST00000303045.6	-	10	1919	c.1473C>A	c.(1471-1473)ccC>ccA	p.P491P	COL22A1_ENST00000435777.1_Silent_p.P491P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	491	Collagen-like 1.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGAGCCCCATGGGGCCAGCAA	0.433000										HNSCC(7;0.00092)			37	135					1.67305e-13	2.51144e-13	1	1	0
ZNF37A	7587	broad.mit.edu	37	10	38404184	38404184	+	Silent	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:38404184A>T	ENST00000351773.3	+	7	1034	c.204A>T	c.(202-204)atA>atT	p.I68I	ZNF37A_ENST00000361085.4_Silent_p.I68I|ZNF37A_ENST00000479469.1_3'UTR	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	68	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AGCCATGGATATTAGAGGAAA	0.408000													9	25					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10379997	10379997	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:10379997C>T	ENST00000397077.1	-	21	3723	c.3148G>A	c.(3148-3150)Gca>Aca	p.A1050T	ATP2B2_ENST00000343816.4_Missense_Mutation_p.A1081T|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A1050T|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A1095T|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A1095T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1095					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGCCTGCCTGCCTCCTTGAGG	0.642000													30	49					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89657607	89657607	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:89657607C>G	ENST00000268720.5	+	15	1596	c.1466C>G	c.(1465-1467)gCg>gGg	p.A489G	CPNE7_ENST00000319518.8_Missense_Mutation_p.A414G	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	489	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		ACCAACGTGGCGCCCATCATC	0.706000													5	10					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231430	7231430	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:7231430C>T	ENST00000379938.2	+	10	3635	c.3098C>T	c.(3097-3099)tCa>tTa	p.S1033L	RREB1_ENST00000349384.6_Missense_Mutation_p.S1033L|RREB1_ENST00000334984.6_Missense_Mutation_p.S1033L|RREB1_ENST00000379933.3_Missense_Mutation_p.S1033L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1033	Pro-rich.				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)				GTGGGCAGCTCAGCCCTCCTG	0.687000													8	51					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178936367	178936367	+	Silent	SNP	C	C	G	rs76216277		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:178936367C>G	ENST00000286063.5	-	1	1115	c.798G>C	c.(796-798)ctG>ctC	p.L266L	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	266	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TGCAAGGCAGCAGAGGTGTTC	0.537000									Primary Pigmented Nodular Adrenocortical Disease, Familial				24	73					0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249108734	249108734	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:249108734C>A	ENST00000366472.5	-	5	1680	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.V119L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	151										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCCACAAACACCATTTCTCGA	0.612000													6	34					3.59834e-05	4.18836e-05	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51901071	51901071	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:51901071G>A	ENST00000268919.4	+	1	833	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	226	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTCAACCAGCGAGAGACAACC	0.562000													17	49					0	0	1	0	0
ZFP36	7538	broad.mit.edu	37	19	39899334	39899334	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:39899334G>T	ENST00000597629.1	+	2	1068	c.994G>T	c.(994-996)Gag>Tag	p.E332*	ZFP36_ENST00000248673.3_Nonsense_Mutation_p.E326*			P26651	TTP_HUMAN	ZFP36 ring finger protein	326					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCTGTTTCTGAGTGACAAAG	0.617000													4	42					0.00024832	0.000277964	1	1	0
POP1	10940	broad.mit.edu	37	8	99168552	99168552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:99168552C>T	ENST00000401707.2	+	15	2413	c.2332C>T	c.(2332-2334)Caa>Taa	p.Q778*	POP1_ENST00000349693.3_Nonsense_Mutation_p.Q778*	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	778					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGCAGGGTGTCAAGAATCGGC	0.542000													31	153					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38081082	38081082	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:38081082C>A	ENST00000308059.6	+	1	387	c.366C>A	c.(364-366)ggC>ggA	p.G122G	DLEC1_ENST00000346219.3_Silent_p.G122G|DLEC1_ENST00000452631.2_Silent_p.G122G			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	122					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGGCCCGCGGCAGCGAGAATG	0.647000													4	58					0.00909568	0.00950591	1	1	0
WDR90	197335	broad.mit.edu	37	16	716961	716961	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:716961G>T	ENST00000549091.1	+	40	5159	c.5067G>T	c.(5065-5067)ggG>ggT	p.G1689G	WDR90_ENST00000315764.4_Silent_p.G238G|WDR90_ENST00000293879.4_Silent_p.G1687G|WDR90_ENST00000547944.1_Silent_p.G286G	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1687										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGTCCCCCGGGACCCACCTCC	0.627000													8	17					5.18039e-06	6.26871e-06	1	1	0
CEL	1056	broad.mit.edu	37	9	135942502	135942502	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:135942502G>T	ENST00000372080.4	+	7	830	c.814G>T	c.(814-816)Ggt>Tgt	p.G272C	CEL_ENST00000351304.7_Missense_Mutation_p.G269C	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	269					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TTGCCCTGTGGGTGATGCCGC	0.617000													13	24					0.00136819	0.00148056	1	1	0
OR14J1	442191	broad.mit.edu	37	6	29274914	29274914	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:29274914G>T	ENST00000377160.2	+	1	512	c.448G>T	c.(448-450)Ggg>Tgg	p.G150W		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GTGGATTGCTGGGGGCCTCTC	0.488000													33	144					3.90053e-15	6.00264e-15	1	1	0
HEPACAM	220296	broad.mit.edu	37	11	124792656	124792656	+	Missense_Mutation	SNP	G	G	T	rs149782549	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:124792656G>T	ENST00000298251.4	-	5	1267	c.862C>A	c.(862-864)Cgc>Agc	p.R288S		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	288					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGTTTCAGGCGGTCATCATTC	0.483000													36	76					7.04047e-22	1.18676e-21	1	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47422559	47422559	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:47422559C>T	ENST00000404338.3	+	1	627	c.627C>T	c.(625-627)taC>taT	p.Y209Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	209					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TTGAGCGGTACATTAGAGATG	0.453000													5	91					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16847834	16847834	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:16847834C>T	ENST00000355661.3	-	10	1186	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.E392E|PLEKHA7_ENST00000531066.1_Silent_p.E392E			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	392					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTCCATTCTTCTCTGCCCGTT	0.587000													32	60					0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	73988126	73988126	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:73988126G>A	ENST00000331597.4	-	9	1284	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	P4HA3_ENST00000427714.2_Silent_p.L413L	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	413						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CAAGGCCTGTGAGGGCAGCAA	0.517000													8	81					0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139090631	139090631	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:139090631C>A	ENST00000371746.3	-	5	775	c.657G>T	c.(655-657)agG>agT	p.R219S	LHX3_ENST00000371748.5_Missense_Mutation_p.R214S	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	214					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CCTTCTTCAGCCTCTTCTCCT	0.721000													8	19					0.0581538	0.0593911	1	1	0
CDH7	1005	broad.mit.edu	37	18	63530153	63530153	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:63530153G>T	ENST00000536984.2	+	11	2558	c.1864G>T	c.(1864-1866)Ggt>Tgt	p.G622C	CDH7_ENST00000397968.2_Splice_Site_p.V622_splice|CDH7_ENST00000323011.3_Splice_Site_p.V622_splice			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	0					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GACATTATTGGGTAGGTACTG	0.498000													6	15					0.0215528	0.022248	1	1	0
OR5K1	26339	broad.mit.edu	37	3	98189143	98189143	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:98189143T>A	ENST00000332650.5	+	1	820	c.723T>A	c.(721-723)tgT>tgA	p.C241*		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTACCTGTGCATCCCACT	0.348000													7	84					0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	73988125	73988125	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:73988125T>A	ENST00000331597.4	-	9	1285	c.1240A>T	c.(1240-1242)Aca>Tca	p.T414S	P4HA3_ENST00000427714.2_Missense_Mutation_p.T414S	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	414						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TCAAGGCCTGTGAGGGCAGCA	0.517000													8	82					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727580	137727580	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:137727580G>T	ENST00000314358.5	+	8	2459	c.2259G>T	c.(2257-2259)ggG>ggT	p.G753G	KDM3B_ENST00000394866.1_Silent_p.G409G|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	753					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAACTGTGGGGCCTGGGCAGC	0.592000													30	166					1.55811e-20	2.60029e-20	1	1	0
GRM8	2918	broad.mit.edu	37	7	126542595	126542595	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:126542595C>A	ENST00000339582.2	-	6	1965		c.e6+1		GRM8_ENST00000480995.1_Splice_Site|GRM8_ENST00000444921.2_Splice_Site|GRM8_ENST00000358373.3_Splice_Site|GRM8_ENST00000405249.1_Splice_Site			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8						negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGAGTGGTTACCTGTGCATTT	0.333000										HNSCC(24;0.065)			9	49					5.4927e-09	7.36256e-09	1	1	0
FBXO40	51725	broad.mit.edu	37	3	121340541	121340541	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:121340541C>A	ENST00000338040.4	+	3	679	c.265C>A	c.(265-267)Ccc>Acc	p.P89T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	89					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GCAGGTGTGCCCCGCCAGCGT	0.577000													25	52					6.32553e-13	9.38357e-13	1	1	0
MIB1	57534	broad.mit.edu	37	18	19444611	19444611	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:19444611G>T	ENST00000261537.6	+	21	3269	c.3005G>T	c.(3004-3006)aGg>aTg	p.R1002M	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	1002					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATTGAACGAAGGATTCTTTTG	0.393000													29	56					2.14196e-07	2.73476e-07	1	1	0
GCNT1	2650	broad.mit.edu	37	9	79118156	79118156	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:79118156G>T	ENST00000442371.1	+	3	1798	c.859G>T	c.(859-861)Gcc>Tcc	p.A287S	GCNT1_ENST00000444201.2_Missense_Mutation_p.A287S|GCNT1_ENST00000536223.1_Missense_Mutation_p.A287S|GCNT1_ENST00000376730.4_Missense_Mutation_p.A287S	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	287	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTCTGGCAGTGCCTACTTCGT	0.463000													28	72					1.88708e-17	3.01216e-17	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618304	77618304	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:77618304G>T	ENST00000521891.2	+	2	2429	c.1981G>T	c.(1981-1983)Gcc>Tcc	p.A661S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A661S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A661S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A661S|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	661						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)			GACCCTGGAGGCCCATATGAA	0.502000										HNSCC(33;0.089)			20	45					1.15919e-05	1.37953e-05	1	1	0
CSF1R	1436	broad.mit.edu	37	5	149460402	149460402	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:149460402T>G	ENST00000286301.3	-	3	526	c.235A>C	c.(235-237)Acg>Ccg	p.T79P	CSF1R_ENST00000543093.1_Missense_Mutation_p.T79P	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	79	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TAGGTCCCCGTGTTTTGGAAG	0.607000													4	21					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205238836	205238836	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:205238836G>T	ENST00000358024.3	+	3	1895	c.1506G>T	c.(1504-1506)ggG>ggT	p.G502G	TMCC2_ENST00000329800.7_Silent_p.G262G|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.G277G|TMCC2_ENST00000545499.1_Silent_p.G424G	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	502						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGGCGCTGGGGAGCCCTAAGT	0.632000													31	60					2.4375e-19	4.00815e-19	1	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119134187	119134187	+	Silent	SNP	A	A	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:119134187A>C	ENST00000264245.4	+	12	3943	c.3411A>C	c.(3409-3411)ccA>ccC	p.P1137P		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1137					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCTCTGAGCCAGGAGACCCAA	0.522000													8	69					0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7064629	7064629	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:7064629G>T	ENST00000456013.1	+	6	970	c.728G>T	c.(727-729)gGc>gTc	p.G243V	PTPN6_ENST00000447931.2_Missense_Mutation_p.G204V|PTPN6_ENST00000318974.9_Missense_Mutation_p.G243V|PTPN6_ENST00000399448.1_Missense_Mutation_p.G245V	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	243					apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GCCAAGGCTGGCTTCTGGGAG	0.637000													16	108					8.60227e-14	1.29807e-13	1	1	0
KRT33B	3884	broad.mit.edu	37	17	39522854	39522854	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:39522854C>A	ENST00000251646.3	-	3	505	c.456G>T	c.(454-456)cgG>cgT	p.R152R		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	152	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CCACCAGCTGCCGCAGGGACT	0.557000													22	62					3.83957e-06	4.663e-06	1	1	0
LINC01566	283914	broad.mit.edu	37	16	34624175	34624175	+	RNA	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:34624175G>A	ENST00000569242.1	+	0	2021					NR_027079.1																						GGGTGAATGTGAAAGGGTAAC	0.448000													3	16					0	0	1	0	0
CNIH4	29097	broad.mit.edu	37	1	224544695	224544695	+	Splice_Site	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:224544695C>T	ENST00000465271.1	+	1	144	c.69_splice	c.e1+1	p.F23_splice	CNIH4_ENST00000366857.5_Splice_Site_p.F23_splice|CNIH4_ENST00000366856.3_Splice_Site_p.F23_splice|CNIH4_ENST00000366858.3_Splice_Site_p.F23_splice|CNIH4_ENST00000468318.1_3'UTR	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	23					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		CGGTCTACTTCGTATCCTTGC	0.662000													3	9					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68102923	68102923	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:68102923G>T	ENST00000262210.5	+	27	3275	c.3244G>T	c.(3244-3246)Gtc>Ttc	p.V1082F	CSPP1_ENST00000412460.1_Missense_Mutation_p.V737F|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1117						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGAAGATGACGTCCTCCCTCC	0.488000													18	59					0.000132079	0.000150351	1	1	0
PCDHB2	56133	broad.mit.edu	37	5	140476694	140476694	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140476694C>T	ENST00000194155.4	+	1	2468	c.2320C>T	c.(2320-2322)Ccc>Tcc	p.P774S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		774					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCAATTATCCCCAACTTCGT	0.517000													19	70					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55026874	55026874	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:55026874G>T	ENST00000371336.3	+	5	843		c.e5-1		CASS4_ENST00000360314.3_Splice_Site|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4						cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TTCTCCCACAGGGGCAGGGTG	0.507000													13	53					0.000151284	0.000171632	1	1	0
ABCA8	10351	broad.mit.edu	37	17	66887655	66887655	+	Missense_Mutation	SNP	G	G	T	rs149786642		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:66887655G>T	ENST00000269080.2	-	22	3136	c.2999C>A	c.(2998-3000)gCc>gAc	p.A1000D	ABCA8_ENST00000430352.2_Missense_Mutation_p.A1040D|ABCA8_ENST00000586539.1_Missense_Mutation_p.A1040D	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1000						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCTGCTCATGGCAATGTAAGG	0.358000													5	44					0.014758	0.0152889	1	1	0
OTOA	146183	broad.mit.edu	37	16	21696565	21696565	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:21696565C>A	ENST00000388958.3	+	6	283	c.282C>A	c.(280-282)aaC>aaA	p.N94K	OTOA_ENST00000388956.4_Missense_Mutation_p.N15K|OTOA_ENST00000286149.4_Missense_Mutation_p.N94K	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	94					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CCGTGGAAAACCACCTGGAGC	0.607000													24	56					1.85244e-09	2.51992e-09	1	1	0
FOXF2	2295	broad.mit.edu	37	6	1390608	1390608	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:1390608G>T	ENST00000259806.1	+	1	540	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	142					epithelial to mesenchymal transition|genitalia development|palate development|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 factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		GCGCCTACCAGGGCTGGAAGA	0.642000													32	54					1.08312e-15	1.67709e-15	1	1	0
WRAP73	49856	broad.mit.edu	37	1	3548040	3548040	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:3548040C>T	ENST00000378322.3	-	11	1288	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	WRAP73_ENST00000270708.7_Silent_p.V410V			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	410						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTTCCCCAGGCACCTGCACCG	0.657000													5	9					0	0	1	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382207	101382207	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:101382207C>A	ENST00000372780.1	+	3	624	c.405C>A	c.(403-405)ccC>ccA	p.P135P	TCEAL2_ENST00000329035.2_Silent_p.P135P	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						ATGATATACCCAGGAAAGCCA	0.473000													10	57					2.74318e-10	3.82981e-10	1	1	0
HIRIP3	8479	broad.mit.edu	37	16	30005442	30005442	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:30005442C>T	ENST00000279392.3	-	4	1854	c.1024G>A	c.(1024-1026)Ggg>Agg	p.G342R	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	342					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GTGGGTTCCCCCTTCCCACTG	0.572000													37	101					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076660	40076660	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:40076660G>T	ENST00000324616.5	+	8	1088	c.934G>T	c.(934-936)Gag>Tag	p.E312*	C12orf40_ENST00000398716.1_Nonsense_Mutation_p.E235*|C12orf40_ENST00000405531.3_Nonsense_Mutation_p.E312*	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	312										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAACATAGATGAGCAAAGGAT	0.323000													91	65					1.42074e-37	2.49713e-37	1	1	0
DHX9	1660	broad.mit.edu	37	1	182836116	182836116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:182836116G>T	ENST00000367549.3	+	14	1605	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	499	Helicase ATP-binding.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAGAAAATTAGAAGCAGGCAT	0.299000													15	114					4.7546e-09	6.37743e-09	1	1	0
ZNF75A	7627	broad.mit.edu	37	16	3367318	3367318	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:3367318G>C	ENST00000574298.1	+	6	813	c.340G>C	c.(340-342)Gaa>Caa	p.E114Q	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						AGCAGGCAAAGAAAATCATTT	0.398000													6	98					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6080792	6080792	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:6080792C>A	ENST00000261405.5	-	44	7775	c.7521G>T	c.(7519-7521)cgG>cgT	p.R2507R		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2507					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGGAGTCCCCCCGCGGTGAGC	0.607000													11	107					1.5842e-08	2.10253e-08	1	1	0
N4BP1	9683	broad.mit.edu	37	16	48596271	48596271	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:48596271C>G	ENST00000262384.3	-	2	519	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	95					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AACAGGCTCTCTGCCCCAACA	0.433000													4	48					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41463807	41463807	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:41463807C>T	ENST00000551295.2	+	24	3144	c.3027C>T	c.(3025-3027)gcC>gcT	p.A1009A	CNTN1_ENST00000347616.1_Silent_p.A1009A|CNTN1_ENST00000348761.2_Silent_p.A998A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	1009					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGCTGCCTGCCTTTGGCATCC	0.473000													7	102					0	0	1	0	0
TIAF1	9220	broad.mit.edu	37	17	27401207	27401207	+	Missense_Mutation	SNP	G	G	A	rs150140656		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:27401207G>A	ENST00000359450.6	-	1	4668	c.11C>T	c.(10-12)cCa>cTa	p.P4L	MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.P4L|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000527372.1_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	4					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGGTGAAGATGGAGATGACAT	0.562000													4	44					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4242845	4242845	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:4242845T>A	ENST00000399609.3	-	6	743	c.731A>T	c.(730-732)aAg>aTg	p.K244M	SRL_ENST00000537996.1_Missense_Mutation_p.K202M	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	703	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTCACGCCCCTTCAACTGGCG	0.542000													27	65					0	0	1	0	0
GLOD5	392465	broad.mit.edu	37	X	48629412	48629412	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:48629412C>A	ENST00000303227.6	+	3	312	c.271C>A	c.(271-273)Ccc>Acc	p.P91T	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2			glyoxalase domain containing 5											endometrium(1)|lung(2)	3						GGAATTTGAACCCAAAGCCGC	0.522000													6	4					3.59834e-05	4.18836e-05	1	1	0
KRT19	3880	broad.mit.edu	37	17	39680734	39680734	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:39680734G>A	ENST00000361566.3	-	4	779	c.719C>T	c.(718-720)gCt>gTt	p.A240V		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GGTGCCCGGAGCGGAATCCAC	0.582000													13	135					0	0	1	0	0
SYTL1	84958	broad.mit.edu	37	1	27677345	27677345	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:27677345G>A	ENST00000543823.1	+	10	1528	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	SYTL1_ENST00000318074.5_Missense_Mutation_p.E344K|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	356	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGCACCGCGAAAGCCTGGG	0.652000													6	59					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890633	55890633	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:55890633C>G	ENST00000313472.3	+	1	785	c.785C>G	c.(784-786)cCa>cGa	p.P262R		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TACTTAAAGCCAAGAAAGTCT	0.383000													28	82					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134660743	134660743	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:134660743G>T	ENST00000368586.5	-	42	6135	c.6035C>A	c.(6034-6036)cCg>cAg	p.P2012Q	TTC40_ENST00000263170.5_Missense_Mutation_p.P173Q	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	173										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCTGGAGGCCGGCGGGTCCCT	0.682000													22	78					1.96292e-10	2.74618e-10	1	1	0
TTLL13	440307	broad.mit.edu	37	15	90799512	90799512	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:90799512C>G	ENST00000438251.1	+	6	978	c.688C>G	c.(688-690)Cag>Gag	p.Q230E	RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000339615.5_Missense_Mutation_p.Q230E			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	230	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TATGATCTGCCAGCAATACAT	0.557000													9	60					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682216	47682216	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:47682216C>G	ENST00000283303.2	+	6	1493	c.1235C>G	c.(1234-1236)tCa>tGa	p.S412*	GPR115_ENST00000371220.1_Nonsense_Mutation_p.S469*|GPR115_ENST00000327753.3_Nonsense_Mutation_p.S412*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	412					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CTCAGCGTCTCAATCCTAAGC	0.483000													11	124					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360190	72360190	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:72360190C>A	ENST00000001146.2	-	5	1311	c.1108G>T	c.(1108-1110)Ggc>Tgc	p.G370C	CYP26B1_ENST00000546307.1_Missense_Mutation_p.G295C|CYP26B1_ENST00000412253.1_Missense_Mutation_p.G179C	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	370					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CGGTAGCCGCCGGAAATGGGC	0.677000													11	56					1.58986e-06	1.95437e-06	1	1	0
METTL2A	339175	broad.mit.edu	37	17	60526014	60526014	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:60526014G>A	ENST00000311506.5	+	9	1097	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	354							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			CAGGTGAACCGAGGAAAGCAA	0.512000													9	164					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229932	140229932	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140229932G>T	ENST00000378122.3	+	1	2576	c.1852G>T	c.(1852-1854)Gcg>Tcg	p.A618S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A618S|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGGCCAGCGCGAGCATCCC	0.682000													25	79					9.86323e-18	1.58188e-17	1	1	0
CUBN	8029	broad.mit.edu	37	10	16873389	16873389	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:16873389G>C	ENST00000377833.4	-	65	10455	c.10390C>G	c.(10390-10392)Cca>Gca	p.P3464A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3464	CUB 26.				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)	CCCAGTAATGGTGAATTGCTG	0.358000													35	93					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15746219	15746219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr21:15746219G>A	ENST00000285667.3	-	5	1202	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	HSPA13_ENST00000544452.1_Nonsense_Mutation_p.Q171*	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	379						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGTATTTTCTGAAAGAGGTCT	0.413000													8	152					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409608	56409608	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:56409608C>A	ENST00000544374.1	-	1	339	c.311G>T	c.(310-312)tGt>tTt	p.C104F	OR5AP2_ENST00000302981.1_Missense_Mutation_p.C103F			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTGGGCAGCACATCCATGAAA	0.502000													19	47					1.01871e-10	1.43818e-10	1	1	0
THSD7B	80731	broad.mit.edu	37	2	137852612	137852612	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:137852612G>T	ENST00000409968.1	+	4	1298	c.1120G>T	c.(1120-1122)Gga>Tga	p.G374*	THSD7B_ENST00000543459.1_Nonsense_Mutation_p.G233*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.G343*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.G374*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATGGCTATTGGAGGTGGAAA	0.532000													14	44					0.00185496	0.002003	1	1	0
TOM1	10043	broad.mit.edu	37	22	35729396	35729396	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:35729396G>T	ENST00000382034.5	+	12	1274		c.e12-1		TOM1_ENST00000425375.1_Splice_Site|TOM1_ENST00000447733.1_Splice_Site|TOM1_ENST00000436462.2_Splice_Site|TOM1_ENST00000411850.1_Splice_Site|TOM1_ENST00000449058.2_Splice_Site			O60784	TOM1_HUMAN	target of myb1 (chicken)						endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CTTCCCACCAGGCCCCAAGTG	0.617000													14	30					0.0242445	0.025001	1	1	0
ATP2B1	490	broad.mit.edu	37	12	90028881	90028881	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:90028881T>C	ENST00000428670.3	-	4	1010	c.554A>G	c.(553-555)cAg>cGg	p.Q185R	ATP2B1_ENST00000359142.3_Missense_Mutation_p.Q185R|ATP2B1_ENST00000348959.3_Missense_Mutation_p.Q185R|ATP2B1_ENST00000261173.2_Missense_Mutation_p.Q185R			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	185					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AATTCGGCTCTGCAAACCTCT	0.438000													26	85					0	0	1	0	0
ACOT8	10005	broad.mit.edu	37	20	44477211	44477211	+	Silent	SNP	G	G	A	rs139222076		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:44477211G>A	ENST00000217455.4	-	3	456	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	122					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CCTGGCAGATGAAGATGGGCT	0.607000													33	137					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766530	57766530	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:57766530C>T	ENST00000371030.2	+	1	456	c.456C>T	c.(454-456)gaC>gaT	p.D152D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	152						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGGTCGCGACTGCCTGAAGC	0.657000													14	143					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744743	50744743	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:50744743G>A	ENST00000300589.2	+	4	1026	c.921G>A	c.(919-921)acG>acA	p.T307T	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	307	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCAAGAGCACGCTCCTGCAGC	0.627000													15	37					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584664	30584664	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:30584664C>A	ENST00000217299.3	+	3	1318	c.1144C>A	c.(1144-1146)Cgc>Agc	p.R382S		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	382						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCGCAGCCGCCGCCGCATGAC	0.582000													13	45					1.5842e-08	2.10253e-08	1	1	0
TUBB8	347688	broad.mit.edu	37	10	94602	94602	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:94602C>T	ENST00000447903.2	-	3	329	c.14G>A	c.(13-15)cGc>cAc	p.R5H	TUBB8_ENST00000309812.4_Missense_Mutation_p.R77H|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Missense_Mutation_p.A41T			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	77					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGGCCCCGAGCGCACAGAGTC	0.682000													10	83					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985270	240985270	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:240985270C>T	ENST00000319423.4	-	1	219	c.220G>A	c.(220-222)Gtg>Atg	p.V74M		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		ATGTCAGACACGTACCAGATC	0.557000													14	82					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143964	56143964	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:56143964A>T	ENST00000302270.1	+	1	865	c.865A>T	c.(865-867)Atc>Ttc	p.I289F		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GAATCCCTTAATCTATAGCCT	0.368000													21	124					0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41743255	41743255	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:41743255C>G	ENST00000373018.3	-	4	406	c.155G>C	c.(154-156)cGt>cCt	p.R52P	FRS3_ENST00000259748.2_Missense_Mutation_p.R52P	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	52	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	p.R52L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GACGGCCTCACGCCGATGCAG	0.617000													10	33					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123105039	123105039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:123105039C>A	ENST00000466202.1	-	10	2182	c.1606G>T	c.(1606-1608)Gaa>Taa	p.E536*	IQUB_ENST00000434450.1_Nonsense_Mutation_p.E536*|IQUB_ENST00000324698.6_Nonsense_Mutation_p.E536*			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	536										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCTAGAATTTCCTGAGTTAGT	0.313000													15	108					3.27435e-08	4.28643e-08	1	1	0
IGLV2-8	28817	broad.mit.edu	37	22	23165295	23165295	+	RNA	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:23165295G>C	ENST00000390317.2	+	0	143				MIR650_ENST00000385101.1_RNA																							AGGAGGCAGCGCTCTCAGGAC	0.647000													6	11					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	45972589	45972589	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:45972589C>T	ENST00000296137.2	-	16	4430	c.4225G>A	c.(4225-4227)Gag>Aag	p.E1409K	FYCO1_ENST00000438446.1_Missense_Mutation_p.E80K|FYCO1_ENST00000535325.1_Missense_Mutation_p.E1429K	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1409	GOLD.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GGTGTGTCCTCGGCCTCCTGG	0.592000													5	29					0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68279360	68279360	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:68279360G>T	ENST00000219345.5	+	1	114	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	PLA2G15_ENST00000566188.1_Missense_Mutation_p.G11W|PLA2G15_ENST00000413021.2_Missense_Mutation_p.G11W|PLA2G15_ENST00000444212.2_Missense_Mutation_p.G11W	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	11					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CTACCGTGTGGGGCTGCTCCC	0.701000													4	23					0.00909568	0.00950591	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140346880	140346880	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140346880G>T	ENST00000289269.5	+	1	1061	c.529G>T	c.(529-531)Gtg>Ttg	p.V177L	PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		177	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCCCGACGTGGGCGCCAA	0.607000													7	20					0.00198382	0.00212846	1	1	0
ATF7IP	55729	broad.mit.edu	37	12	14577288	14577288	+	Nonsense_Mutation	SNP	G	G	T	rs140582861	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:14577288G>T	ENST00000544627.1	+	2	783	c.463G>T	c.(463-465)Gga>Tga	p.G155*	ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.G147*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.G147*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.G147*|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.G147*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	147					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						TCCAGCCTCCGGAGTACTGGC	0.562000													34	41					8.88839e-20	1.47118e-19	1	1	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858693	149858693	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:149858693G>C	ENST00000331380.2	+	1	169	c.169G>C	c.(169-171)Gag>Cag	p.E57Q		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	57					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGCGGTCCTCGAGTACCTGAC	0.682000													9	127					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799285	5799285	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:5799285C>T	ENST00000317093.2	-	1	612	c.580G>A	c.(580-582)Gta>Ata	p.V194I	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		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)		GATAGCTTTACTACAGACATG	0.408000													12	95					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197873728	197873728	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:197873728C>A	ENST00000328737.2	-	19	1953	c.1877G>T	c.(1876-1878)cGg>cTg	p.R626L	ANKRD44_ENST00000337207.5_Missense_Mutation_p.R626L|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R626L|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R643L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	651							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGCAACAGCCGTAAACACAG	0.423000													19	79					1.15919e-05	1.37953e-05	1	1	0
CMBL	134147	broad.mit.edu	37	5	10290834	10290834	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:10290834T>C	ENST00000296658.3	-	2	461	c.41A>G	c.(40-42)cAc>cGc	p.H14R	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	14						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CTCAAGTCTGTGGCCAATGTC	0.478000													15	128					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577117	7577117	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:7577117A>T	ENST00000420246.2	-	8	953	c.821T>A	c.(820-822)gTt>gAt	p.V274D	TP53_ENST00000359597.4_Missense_Mutation_p.V274D|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.V274D|TP53_ENST00000455263.2_Missense_Mutation_p.V274D|TP53_ENST00000445888.2_Missense_Mutation_p.V274D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V274A(19)|p.V274D(9)|p.V274G(8)|p.0?(8)|p.?(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.V272_K292del21(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)		ACAGGCACAAACACGCACCTC	0.552000		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)			10	10					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120600725	120600725	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:120600725C>G	ENST00000300648.6	-	20	2101	c.2089G>C	c.(2089-2091)Gat>Cat	p.D697H		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	697					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTCAGGATCGATCTTCATC	0.562000													26	75					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131834	142131834	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:142131834C>A	ENST00000390375.2	-	0	84																											CTCACCTGCTCCCAGGAGACA	0.617000													12	61					0.00136819	0.00148056	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39230502	39230502	+	Missense_Mutation	SNP	C	C	A	rs138658722	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:39230502C>A	ENST00000340369.3	-	2	663	c.435G>T	c.(433-435)agG>agT	p.R145S	XIRP1_ENST00000396251.1_Missense_Mutation_p.R145S|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	145							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGCTGGGGCCTGGTTGGCT	0.622000													6	58					2.7689e-08	3.65081e-08	1	1	0
CCPG1	9236	broad.mit.edu	37	15	55677870	55677870	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:55677870T>A	ENST00000310958.6	-	3	401	c.103A>T	c.(103-105)Agc>Tgc	p.S35C	CCPG1_ENST00000442196.3_Missense_Mutation_p.S35C|CCPG1_ENST00000425574.3_Missense_Mutation_p.S35C|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.S35C	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	35	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GGCTCACAGCTGTCAGTGGGG	0.403000													5	23					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28918414	28918414	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:28918414G>C	ENST00000257192.4	+	10	1614	c.1402G>C	c.(1402-1404)Gat>Cat	p.D468H		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	468	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TCTCTCTATAGATGGTAAGAA	0.303000													5	32					0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35278301	35278301	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:35278301G>A	ENST00000316637.5	+	3	308	c.303G>A	c.(301-303)aaG>aaA	p.K101K	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	101						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CGGCCAAGAAGAACTATCGGG	0.537000													19	130					0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114018505	114018505	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:114018505G>T	ENST00000481065.1	+	4	3269	c.654G>T	c.(652-654)gtG>gtT	p.V218V	TIGIT_ENST00000486257.1_Silent_p.V151V|TIGIT_ENST00000383671.3_Silent_p.V151V			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	151					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CGACGCTGGTGGTCATCTGCA	0.602000													15	20					3.52763e-06	4.28674e-06	1	1	0
OR8B3	390271	broad.mit.edu	37	11	124267015	124267015	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:124267015G>T	ENST00000354597.3	-	1	249	c.233C>A	c.(232-234)aCt>aAt	p.T78N		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CATTTTGGGAGTGAAAACAGA	0.358000													11	89					4.68919e-08	6.11871e-08	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51935861	51935861	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:51935861T>A	ENST00000371117.3	-	9	885	c.610A>T	c.(610-612)Att>Ttt	p.I204F	PKHD1_ENST00000340994.4_Missense_Mutation_p.I204F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	204	IPT/TIG 2.				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)					TCCTCCTGAATAGGATAACTA	0.403000													14	47					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8756903	8756903	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:8756903C>A	ENST00000229335.6	-	5	677	c.574G>T	c.(574-576)Gca>Tca	p.A192S	AICDA_ENST00000537228.1_Missense_Mutation_p.A182S	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	192					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTACGAAATGCGTCTCGTAAG	0.463000													27	34					1.74807e-11	2.52082e-11	1	1	0
ARFGEF2	10564	broad.mit.edu	37	20	47587801	47587801	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:47587801C>T	ENST00000371917.4	+	10	1335	c.1335C>T	c.(1333-1335)gtC>gtT	p.V445V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	445					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAAACGGCGTCTCTTCAGTGC	0.428000													41	69					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100134	110100134	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:110100134C>G	ENST00000518632.1	+	2	744	c.393C>G	c.(391-393)atC>atG	p.I131M	TRHR_ENST00000311762.2_Missense_Mutation_p.I131M			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	131						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTCACCCCATCAAAGCCCAGT	0.423000													7	95					0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22426700	22426700	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:22426700C>A	ENST00000240123.7	+	17	1728	c.1345C>A	c.(1345-1347)Ccg>Acg	p.P449T	SORBS3_ENST00000428103.1_Missense_Mutation_p.P107T|SORBS3_ENST00000523740.1_3'UTR	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	449	Binds to vinculin.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CATCAAGCCCCCGACCTACCA	0.602000													4	43					0.00024832	0.000277964	1	1	0
SULT1A1	6817	broad.mit.edu	37	16	28617479	28617479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:28617479G>A	ENST00000395609.1	-	9	1431	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	SULT1A1_ENST00000395607.1_Nonsense_Mutation_p.Q225*|SULT1A1_ENST00000350842.4_Nonsense_Mutation_p.Q147*|SULT1A1_ENST00000569554.1_Nonsense_Mutation_p.Q225*|SULT1A1_ENST00000314752.7_Nonsense_Mutation_p.Q225*			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	225					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GACGTGTGCTGAACCACGAAG	0.557000													13	187					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36307053	36307053	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:36307053G>T	ENST00000373210.3	+	14	2257	c.2012G>T	c.(2011-2013)gGa>gTa	p.G671V		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		TATTACCGTGGAGGGGTATCT	0.498000													12	57					2.80697e-09	3.78013e-09	1	1	0
RPS10-NUDT3	100529239	broad.mit.edu	37	6	34389536	34389536	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:34389536C>G	ENST00000605528.1	-	4	387	c.371G>C	c.(370-372)aGa>aCa	p.R124T	RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000344700.3_Missense_Mutation_p.R124T|RPS10_ENST00000326199.8_Missense_Mutation_p.R124T	NM_001202470.2	NP_001189399.1																					GTAGGTATCTCTGTCAGCTTC	0.512000													19	348					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76029171	76029171	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:76029171C>A	ENST00000319211.4	+	2	1386	c.1121C>A	c.(1120-1122)gCt>gAt	p.A374D		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	374					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TACTATTACGCTTCCTCTGAG	0.488000													24	95					1.64293e-13	2.46807e-13	1	1	0
TEKT3	64518	broad.mit.edu	37	17	15231318	15231318	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:15231318T>A	ENST00000395930.1	-	4	840	c.654A>T	c.(652-654)caA>caT	p.Q218H	TEKT3_ENST00000338696.2_Missense_Mutation_p.Q218H	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	218					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CCGTCAGCAGTTGTGCTTCAA	0.398000													29	39					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6971651	6971651	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:6971651C>T	ENST00000229268.8	+	14	1743	c.1691C>T	c.(1690-1692)tCa>tTa	p.S564L	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.S564L	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	564					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CGATTTGCCTCATTCCCTGAC	0.542000													13	170					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798581	39798581	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:39798581G>T	ENST00000248668.4	-	2	2007	c.2008C>A	c.(2008-2010)Cga>Aga	p.R670R		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	670						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGGCTCCTTCGAGGGCCCACC	0.721000													4	11					0.150653	0.152316	1	1	0
ZMPSTE24	10269	broad.mit.edu	37	1	40737572	40737572	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:40737572G>C	ENST00000372759.3	+	6	799	c.634G>C	c.(634-636)Gtc>Ctc	p.V212L		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	212						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCAGGTTCTTGTCACAATCTA	0.289000													14	38					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128843243	128843243	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:128843243G>T	ENST00000249373.3	+	2	630	c.350G>T	c.(349-351)cGc>cTc	p.R117L		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	117	FZ.				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R117L(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATGCCCCCCGCTGCTGGGCA	0.652000			Mis		skin basal cell								5	3					1.23904e-05	1.46677e-05	1	1	0
SGPP1	81537	broad.mit.edu	37	14	64194140	64194140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:64194140G>A	ENST00000247225.6	-	1	617	c.523C>T	c.(523-525)Cag>Tag	p.Q175*		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	175						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		TTGGTGCACTGGCCCAGGTAC	0.607000													6	62					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16082395	16082395	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:16082395A>T	ENST00000281043.3	+	2	506	c.209A>T	c.(208-210)cAc>cTc	p.H70L		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	70					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TTCGCGGAGCACAGCTCCGAG	0.711000			A		neuroblastoma								3	16					0	0	1	0	0
CCDC122	160857	broad.mit.edu	37	13	44433833	44433833	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:44433833C>A	ENST00000444614.3	-	5	788	c.530G>T	c.(529-531)gGa>gTa	p.G177V	CCDC122_ENST00000281508.3_Missense_Mutation_p.G177V|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	177										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TCGGTTCCCTCCTGGATTTTG	0.299000													15	47					6.31663e-08	8.2051e-08	1	1	0
OR2G2	81470	broad.mit.edu	37	1	247752012	247752012	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:247752012C>A	ENST00000320065.1	+	1	351	c.351C>A	c.(349-351)ctC>ctA	p.L117L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGTGCGTCCTCCCGGCTGTGA	0.527000													87	164					8.38868e-51	1.4887e-50	1	1	0
CYP2C9	1559	broad.mit.edu	37	10	96740945	96740945	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:96740945G>T	ENST00000260682.6	+	7	979	c.967G>T	c.(967-969)Gtc>Ttc	p.V323F		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	323					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	ATCAGCTAAAGTCCAGGAAGA	0.458000													42	85					2.45108e-15	3.78359e-15	1	1	0
DLD	1738	broad.mit.edu	37	7	107559470	107559470	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:107559470G>T	ENST00000205402.5	+	13	1671	c.1390G>T	c.(1390-1392)Gta>Tta	p.V464L	DLD_ENST00000437604.2_Missense_Mutation_p.V416L|DLD_ENST00000440410.1_Missense_Mutation_p.V441L|DLD_ENST00000537148.1_Missense_Mutation_p.V365L	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	464					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TGGAGAAATGGTAAATGAAGC	0.373000													23	52					1.10923e-09	1.513e-09	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31359333	31359333	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:31359333C>A	ENST00000542188.1	-	5	915	c.602G>T	c.(601-603)cGg>cTg	p.R201L	TRPM1_ENST00000397795.2_Missense_Mutation_p.R162L|TRPM1_ENST00000256552.6_Missense_Mutation_p.R184L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	162					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGCACAAACCCGGCCTCTGGA	0.478000													15	76					0.0242445	0.025001	1	1	0
TENM2	57451	broad.mit.edu	37	5	167625979	167625979	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:167625979G>A	ENST00000519204.1	+	15	2777	c.2659G>A	c.(2659-2661)Gtg>Atg	p.V887M	TENM2_ENST00000518659.1_Missense_Mutation_p.V1008M|TENM2_ENST00000403607.2_Missense_Mutation_p.V832M|TENM2_ENST00000545108.1_Missense_Mutation_p.V1008M|TENM2_ENST00000520394.1_Missense_Mutation_p.V776M					teneurin transmembrane protein 2																		GGACACCCTGGTGATGAAGAC	0.562000													13	33					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475314	17475314	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:17475314T>C	ENST00000377873.3	-	8	1442	c.1403A>G	c.(1402-1404)gAg>gGg	p.E468G	BFSP1_ENST00000544874.1_Missense_Mutation_p.E329G|BFSP1_ENST00000377868.2_Missense_Mutation_p.E343G|BFSP1_ENST00000536626.1_Missense_Mutation_p.E329G	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	468	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CACGTGCCGCTCTTTGGTGTA	0.527000													17	83					0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197643273	197643273	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:197643273G>A	ENST00000235453.4	-	5	400	c.123C>T	c.(121-123)ttC>ttT	p.F41F	DENND1B_ENST00000400967.2_Silent_p.F41F|DENND1B_ENST00000367396.3_Silent_p.F51F			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	51	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AGGGAAAACAGAACTTTGGCA	0.264000													3	25					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79386500	79386500	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:79386500G>T	ENST00000393878.1	-	1	286	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	REG3A_ENST00000305165.2_Missense_Mutation_p.S11Y|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Missense_Mutation_p.S11Y	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	11					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CAGCATCCAAGATACACTGGG	0.522000													11	56					1.05317e-09	1.44043e-09	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17232305	17232305	+	Silent	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:17232305G>C	ENST00000261381.6	-	8	1755	c.1671C>G	c.(1669-1671)cgC>cgG	p.R557R	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	557					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCCCAGCTTGCGATTCCAGT	0.597000													16	66					0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44713611	44713611	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:44713611C>A	ENST00000372257.2	-	8	1112	c.931_splice	c.e8+1	p.D311_splice	ERI3_ENST00000372259.5_Splice_Site_p.D196_splice|ERI3_ENST00000537474.1_Splice_Site_p.D134_splice	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	311	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGGGACTGACCAATGCCGCTG	0.597000													8	38					0.00307968	0.00328673	1	1	0
MGAM	8972	broad.mit.edu	37	7	141708481	141708481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:141708481C>A	ENST00000475668.2	+	3	357	c.303C>A	c.(301-303)tgC>tgA	p.C101*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.C101*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	101	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAATTAATTGCATCCCTGACC	0.388000													17	40					5.03518e-11	7.18396e-11	1	1	0
KCNJ1	3758	broad.mit.edu	37	11	128709379	128709379	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:128709379C>T	ENST00000392665.2	-	2	904	c.760G>A	c.(760-762)Gat>Aat	p.D254N	KCNJ1_ENST00000392666.1_Missense_Mutation_p.D254N|KCNJ1_ENST00000440599.2_Missense_Mutation_p.D254N|KCNJ1_ENST00000392664.2_Missense_Mutation_p.D273N|KCNJ1_ENST00000324036.3_Missense_Mutation_p.D254N	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	273					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CTGTTGTGATCAATGACATGG	0.433000													15	114					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138380	126138380	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:126138380C>G	ENST00000299308.3	+	9	2369	c.2361C>G	c.(2359-2361)gtC>gtG	p.V787V	TMEM132B_ENST00000535886.1_Silent_p.V299V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	787						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGTCAAGGTCAAATTCGAAC	0.433000													18	68					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331787	107331787	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:107331787G>C	ENST00000335040.1	+	1	339	c.339G>C	c.(337-339)atG>atC	p.M113I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CGGAGTGCATGATCTTAGGCA	0.502000													36	68					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40376833	40376833	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:40376833C>T	ENST00000293328.3	-	4	507	c.339G>A	c.(337-339)ttG>ttA	p.L113L		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	113					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GTTCATTGTACAATATATGGC	0.522000													7	52					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187541997	187541997	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:187541997G>A	ENST00000261023.3	+	30	3399	c.3125G>A	c.(3124-3126)gGt>gAt	p.G1042D	ITGAV_ENST00000433736.2_Missense_Mutation_p.G996D|ITGAV_ENST00000374907.3_Missense_Mutation_p.G1006D|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	1042					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CATGAAAATGGTGAAGGAAAC	0.368000													5	23					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720867	140720867	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140720867G>T	ENST00000394576.2	+	1	2329	c.2329G>T	c.(2329-2331)Gac>Tac	p.D777Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACTATGCGGACACGCTCAT	0.522000													11	126					1.08611e-07	1.39732e-07	1	1	0
B4GALT1	2683	broad.mit.edu	37	9	33166815	33166815	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:33166815G>A	ENST00000379731.4	-	1	539	c.353C>T	c.(352-354)cCa>cTa	p.P118L	B4GALT1_ENST00000535206.1_Missense_Mutation_p.P118L	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	118					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GTGGGGCACTGGGACCGAGGT	0.711000													6	13					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202702698	202702698	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:202702698G>C	ENST00000367265.3	-	23	4904	c.3740C>G	c.(3739-3741)cCt>cGt	p.P1247R	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1283R	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1247					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATCTCCCTCAGGAAGGCGAAC	0.498000													9	85					0	0	1	0	0
IGKV2D-30	28881	broad.mit.edu	37	2	89976454	89976454	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:89976454G>T	ENST00000474213.1	+	0	360																											TGAGGATGTTGGGGTTTATTA	0.557000													13	77					1.85244e-09	2.51992e-09	1	1	0
ITPKB	3707	broad.mit.edu	37	1	226923663	226923663	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:226923663C>G	ENST00000429204.1	-	2	1824	c.1497G>C	c.(1495-1497)gtG>gtC	p.V499V	ITPKB_ENST00000366784.1_Silent_p.V499V|ITPKB_ENST00000272117.3_Silent_p.V499V	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	499							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTGCACACCCACCCTGTCCC	0.607000													36	40					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128823	248128823	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:248128823A>G	ENST00000366480.3	+	1	289	c.190A>G	c.(190-192)Att>Gtt	p.I64V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GATCCACCTCATTCGACTGAA	0.473000													22	245					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639959	97639959	+	Missense_Mutation	SNP	C	C	A	rs149464525		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:97639959C>A	ENST00000298440.1	-	4	298	c.55G>T	c.(55-57)Gct>Tct	p.A19S	OXGR1_ENST00000543457.1_Missense_Mutation_p.A19S	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	19						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			CCAAAAGCAGCTGCATAATCG	0.423000													47	65					8.72198e-27	1.50544e-26	1	1	0
KCTD10	83892	broad.mit.edu	37	12	109889506	109889506	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:109889506G>T	ENST00000228495.6	-	7	1117	c.836C>A	c.(835-837)gCg>gAg	p.A279E	KCTD10_ENST00000540089.1_Missense_Mutation_p.A98E|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540411.1_Missense_Mutation_p.A253E|KCTD10_ENST00000424763.2_Missense_Mutation_p.A98E	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	279					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GGAGCGCCCCGCCGCCCCGCC	0.667000													7	25					0.0293803	0.030189	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38120645	38120645	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:38120645G>C	ENST00000406386.3	+	7	2337	c.2082G>C	c.(2080-2082)gaG>gaC	p.E694D	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	694					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCAACAAGAGAACCCCAGAA	0.567000													17	99					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105181143	105181143	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:105181143C>T	ENST00000392634.4	+	21	3756	c.3644C>T	c.(3643-3645)tCa>tTa	p.S1215L	INF2_ENST00000330634.7_Missense_Mutation_p.S1215L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1215					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GGCCGGGCCTCAAAGGGGACC	0.697000													5	15					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27284128	27284128	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr21:27284128C>G	ENST00000358918.3	-	14	2033	c.1834G>C	c.(1834-1836)Gag>Cag	p.E612Q	APP_ENST00000439274.2_Missense_Mutation_p.E556Q|APP_ENST00000357903.3_Missense_Mutation_p.E593Q|APP_ENST00000440126.3_Missense_Mutation_p.E588Q|APP_ENST00000348990.5_Missense_Mutation_p.E537Q|APP_ENST00000354192.3_Missense_Mutation_p.E481Q|APP_ENST00000359726.3_Missense_Mutation_p.E556Q|APP_ENST00000346798.3_Missense_Mutation_p.E612Q|APP_ENST00000448388.2_Missense_Mutation_p.E502Q	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	612					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AGGCTGAACTCTCCATTCACG	0.522000													8	55					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114401564	114401564	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:114401564G>T	ENST00000536312.1	-	6	1058	c.166C>A	c.(166-168)Cct>Act	p.P56T	NXPE1_ENST00000251921.2_5'UTR|NXPE1_ENST00000424269.1_Missense_Mutation_p.P56T					neurexophilin and PC-esterase domain family, member 1																		GATGTTTTAGGGAATAAGGAC	0.388000													32	121					9.04072e-19	1.47103e-18	1	1	0
WDR59	79726	broad.mit.edu	37	16	74908272	74908272	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:74908272G>A	ENST00000262144.6	-	26	2890	c.2760C>T	c.(2758-2760)ttC>ttT	p.F920F		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	920										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						ACTGGAACGTGAAGCCTTTGC	0.602000													9	59					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067816	190067816	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:190067816T>G	ENST00000367462.3	-	8	1864	c.1633A>C	c.(1633-1635)Agt>Cgt	p.S545R	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S443R	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		545						extracellular region				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)					TGGACCAGACTTGACTTGTAC	0.453000													18	90					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43399993	43399993	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:43399993G>T	ENST00000244533.3	+	1	505	c.146G>T	c.(145-147)gGg>gTg	p.G49V	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.G92V	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	92						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TTGCCACCAGGGGCAGGCCCA	0.622000													38	92					5.71845e-15	8.78689e-15	1	1	0
ABCA9	10350	broad.mit.edu	37	17	67031800	67031800	+	Splice_Site	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:67031800C>G	ENST00000340001.4	-	7	1154		c.e7+1		ABCA9_ENST00000370732.2_Splice_Site|ABCA9_ENST00000453985.2_Splice_Site	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9						transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AACCAACTCACCAAAGACAGG	0.388000													7	52					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55253342	55253342	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:55253342C>T	ENST00000337526.6	-	3	2136	c.1893G>A	c.(1891-1893)gtG>gtA	p.V631V	RTN4_ENST00000402434.2_Intron|RTN4_ENST00000405240.1_Silent_p.V425V|RTN4_ENST00000404909.1_Silent_p.V425V|RTN4_ENST00000394611.2_Silent_p.V425V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Silent_p.V399V|RTN4_ENST00000357376.3_Silent_p.V425V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	631					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TGGGCTGTATCACGGAAGCAC	0.443000													6	50					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128628042	128628042	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:128628042C>A	ENST00000429175.2	+	2	315	c.51C>A	c.(49-51)tcC>tcA	p.S17S	FLI1_ENST00000344954.6_5'UTR|FLI1_ENST00000527767.2_3'UTR|FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000534087.1_5'UTR	NM_002017.3	NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	17					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACGACCAGTCCCTCTTTGACT	0.607000			T	EWSR1	Ewing sarcoma								4	10					0.00909568	0.00950591	1	1	0
FKBP9L	360132	broad.mit.edu	37	7	55750190	55750190	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:55750190C>A	ENST00000455909.1	-	0	1027					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						ATATATCAACCCACCCCGATG	0.488000													5	8					0.184627	0.186104	1	1	0
OIT3	170392	broad.mit.edu	37	10	74658755	74658755	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:74658755G>A	ENST00000334011.5	+	2	613	c.395G>A	c.(394-396)cGt>cAt	p.R132H		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	132						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TATGTGTATCGTCTGACCAAG	0.542000													21	54					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63138679	63138679	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:63138679G>C	ENST00000279178.3	+	2	724	c.475G>C	c.(475-477)Gga>Cga	p.G159R	SLC22A9_ENST00000310969.4_Missense_Mutation_p.G159R	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	159					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AATGATGGTGGGAGGCATCCT	0.423000													4	58					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158609780	158609780	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:158609780C>G	ENST00000368148.3	-	34	4935	c.4755G>C	c.(4753-4755)ctG>ctC	p.L1585L	SPTA1_ENST00000368147.3_Silent_p.L1585L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1585					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)					AATGTTCCTTCAGCTGTTCCA	0.478000													47	91					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57070189	57070189	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:57070189G>A	ENST00000532437.1	-	6	4738	c.4427C>T	c.(4426-4428)tCg>tTg	p.S1476L	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1476L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1476	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCCAAGGCCCGAGGCCGCTGA	0.731000													3	6					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63246537	63246537	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:63246537C>T	ENST00000322893.7	-	10	2196	c.1928G>A	c.(1927-1929)cGg>cAg	p.R643Q	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.R585Q	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	643					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAAGGCTTCCCGCTTGATGAT	0.478000													7	55					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390485	197390485	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:197390485C>A	ENST00000367400.3	+	6	1662	c.1527C>A	c.(1525-1527)aaC>aaA	p.N509K	CRB1_ENST00000535699.1_Missense_Mutation_p.N440K|CRB1_ENST00000538660.1_Missense_Mutation_p.N509K|CRB1_ENST00000543483.1_Missense_Mutation_p.N208K|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.N397K|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	509	Laminin G-like 1.				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						CAGTTTGTAACATAGCCCTCA	0.502000													19	79					3.99206e-14	6.05567e-14	1	1	0
TMC2	117532	broad.mit.edu	37	20	2572998	2572998	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:2572998G>T	ENST00000358864.1	+	8	892	c.877G>T	c.(877-879)Gtg>Ttg	p.V293L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	293						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAAAGACAGTGCCTCGGGC	0.433000													35	76					5.04308e-16	7.85691e-16	1	1	0
IFT80	57560	broad.mit.edu	37	3	159976353	159976353	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:159976353G>C	ENST00000326448.7	-	20	2726	c.2294C>G	c.(2293-2295)tCa>tGa	p.S765*	IFT80_ENST00000483465.1_Nonsense_Mutation_p.S628*|RP11-432B6.3_ENST00000483754.1_Nonsense_Mutation_p.S936*|IFT80_ENST00000496589.1_Nonsense_Mutation_p.S628*	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	765						cilium axoneme|microtubule basal body		p.S765L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTGGCTGCTTGATGATTGCTC	0.338000													9	77					0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129658511	129658511	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:129658511G>A	ENST00000358303.4	-	10	1586	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.S458L|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.S430L|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.S480L|RP11-306G20.1_ENST00000587038.1_RNA	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	501					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCTTCAGCATGAGCACAGAGA	0.413000													12	76					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107591246	107591246	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:107591246C>G	ENST00000374736.3	-	15	2460	c.2066G>C	c.(2065-2067)aGc>aCc	p.S689T	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	689					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGGAATGAGGCTACTAATGAA	0.532000													7	52					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55663010	55663010	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:55663010C>T	ENST00000373965.2	-	27	3909	c.3515G>A	c.(3514-3516)aGa>aAa	p.R1172K	PCDH15_ENST00000320301.6_Missense_Mutation_p.R1165K|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1094K|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1170K|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1143K|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1128K|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1165K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1165K|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1172K|PCDH15_ENST00000409834.1_Missense_Mutation_p.R776K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1165K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1165	Cadherin 11.				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)				TACCTTCACTCTGAGTACAGA	0.358000										HNSCC(58;0.16)			7	58					0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3487174	3487174	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:3487174C>G	ENST00000301744.4	-	4	760	c.525G>C	c.(523-525)caG>caC	p.Q175H	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AATGAATTTTCTGATGCAAAA	0.408000													12	226					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48382046	48382046	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:48382046C>A	ENST00000224600.4	-	4	3716	c.3603G>T	c.(3601-3603)tcG>tcT	p.S1201S		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1201	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCTGCCATCCGAGGCCCCCA	0.647000													17	54					6.94344e-10	9.52892e-10	1	1	0
PRSS1	5644	broad.mit.edu	37	7	142459849	142459849	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:142459849C>A	ENST00000486171.1	+	4	484	c.467C>A	c.(466-468)tCt>tAt	p.S156Y	PRSS1_ENST00000311737.7_Missense_Mutation_p.S142Y			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	142	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TGCCTCATCTCTGGCTGGGGC	0.567000													20	105					8.34094e-07	1.03098e-06	1	1	0
AMY2A	279	broad.mit.edu	37	1	104160111	104160111	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:104160111T>C	ENST00000414303.2	+	1	113	c.49T>C	c.(49-51)Tat>Cat	p.Y17H		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	17					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	CTGGGCTCAGTATTCCCCAAA	0.398000													35	175					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6942086	6942086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:6942086C>A	ENST00000389658.3	-	63	9313	c.9220G>T	c.(9220-9222)Gag>Tag	p.E3074*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	3074					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTCAGGACTCGGTCCCAGGA	0.443000													43	125					2.77807e-22	4.69454e-22	1	1	0
TMEM231	79583	broad.mit.edu	37	16	75574074	75574074	+	Splice_Site	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:75574074T>C	ENST00000398114.2	-	6	896		c.e6-2		TMEM231_ENST00000565067.1_Splice_Site|TMEM231_ENST00000569294.1_Splice_Site|RP11-77K12.7_ENST00000460606.1_Intron|TMEM231_ENST00000258173.6_Splice_Site	NM_001077416.1	NP_001070884.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231							integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGCTGATAAGTATGGACAGTT	0.463000													13	11					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33795492	33795492	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:33795492G>C	ENST00000261326.5	+	8	1370	c.1349G>C	c.(1348-1350)tGt>tCt	p.C450S		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	450					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GGTCATGTCTGTGGGGACAAT	0.468000													4	17					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43243158	43243158	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:43243158C>A	ENST00000327495.5	-	2	332	c.148G>T	c.(148-150)Gac>Tac	p.D50Y	PSG3_ENST00000595140.1_Missense_Mutation_p.D50Y|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	50	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGAAGAACGTCCTTCCCCTTG	0.463000													132	205					1.84813e-57	3.28557e-57	1	1	0
RPTN	126638	broad.mit.edu	37	1	152128244	152128244	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:152128244C>G	ENST00000316073.3	-	3	1395	c.1331G>C	c.(1330-1332)aGa>aCa	p.R444T		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	444	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGGCCTTGTCTGTCTGGCTG	0.537000													60	1409					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168638	142168638	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:142168638G>T	ENST00000454561.2	-	0	285																											TTGATCAGGTGTGTGGGACTT	0.562000													10	48					1.99824e-07	2.55288e-07	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73849188	73849188	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:73849188A>T	ENST00000523207.1	+	3	2186	c.1598A>T	c.(1597-1599)cAg>cTg	p.Q533L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	533					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)			TCCAGCCCACAGCATCTGAGT	0.493000													31	106					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096825	167096825	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:167096825C>A	ENST00000361200.2	+	6	2623	c.2457C>A	c.(2455-2457)acC>acA	p.T819T	DUSP27_ENST00000443333.1_Silent_p.T819T|DUSP27_ENST00000271385.5_Silent_p.T819T|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	819					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.T819T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGAGGGGGACCAGCAAGCCCA	0.547000													32	98					5.77227e-19	9.43787e-19	1	1	0
OPN4	94233	broad.mit.edu	37	10	88425498	88425498	+	Missense_Mutation	SNP	C	C	A	rs35891072	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:88425498C>A	ENST00000372071.2	+	11	1687	c.1460C>A	c.(1459-1461)cCc>cAc	p.P487H	OPN4_ENST00000241891.5_Missense_Mutation_p.P476H	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	476					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						AGCCAGGACCCCAGGATGTAG	0.577000													14	65					0.00244969	0.00262551	1	1	0
CPA1	1357	broad.mit.edu	37	7	130027674	130027674	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:130027674G>T	ENST00000011292.3	+	10	1232	c.1082G>T	c.(1081-1083)aGt>aTt	p.S361I	CPA1_ENST00000484324.1_Missense_Mutation_p.S273I	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	361					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GATCAAGCCAGTGGAAGCACT	0.532000													102	438					3.27315e-48	5.79848e-48	1	1	0
NCOA3	8202	broad.mit.edu	37	20	46264785	46264785	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:46264785C>T	ENST00000372004.3	+	12	1871	c.1655C>T	c.(1654-1656)cCc>cTc	p.P552L	NCOA3_ENST00000371997.3_Missense_Mutation_p.P562L|NCOA3_ENST00000341724.6_Missense_Mutation_p.P562L|NCOA3_ENST00000371998.3_Missense_Mutation_p.P552L	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	552	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GATAACTCTCCCAATATGAAT	0.463000													8	101					0	0	1	0	0
CCDC115	84317	broad.mit.edu	37	2	131099249	131099249	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:131099249G>T	ENST00000259229.2	-	3	512	c.289C>A	c.(289-291)Cgc>Agc	p.R97S	CCDC115_ENST00000409127.1_Missense_Mutation_p.R92S|CCDC115_ENST00000437688.2_Missense_Mutation_p.R92S	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	97						endosome|lysosome				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					CCTGCTTCGCGAGGCCCCACC	0.542000													7	29					0.000157383	0.000177651	1	1	0
FGF6	2251	broad.mit.edu	37	12	4554571	4554571	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:4554571T>G	ENST00000228837.2	-	1	209	c.166A>C	c.(166-168)Acc>Ccc	p.T56P		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	56					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			GACAGCAGGGTGCCCCAGCCC	0.647000													8	126					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765564	50765564	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:50765564C>T	ENST00000404971.1	-	11	3429	c.2090G>A	c.(2089-2091)cGg>cAg	p.R697Q	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.R657Q|NRXN1_ENST00000406316.2_Missense_Mutation_p.R657Q|NRXN1_ENST00000402717.3_Missense_Mutation_p.R649Q|NRXN1_ENST00000405472.3_Missense_Mutation_p.R649Q|NRXN1_ENST00000406859.3_Missense_Mutation_p.R657Q	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	657	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGCCATTTGCCGGATATCTTT	0.507000													94	218					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40669592	40669592	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:40669592G>T	ENST00000454349.2	+	7	3340	c.3129G>T	c.(3127-3129)aaG>aaT	p.K1043N	TNRC6B_ENST00000301923.9_Missense_Mutation_p.K296N|TNRC6B_ENST00000402203.1_Missense_Mutation_p.K296N|TNRC6B_ENST00000335727.8_Missense_Mutation_p.K990N	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1043					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						AAGGAGGAAAGAAACAAATGA	0.493000													4	7					4.096e-09	5.51237e-09	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25474051	25474051	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:25474051G>T	ENST00000453082.2	+	0	1363					NR_003343.1																						CTCCTGCACTGAGCTGGGGTA	0.577000													42	103					5.04308e-16	7.85691e-16	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51824730	51824730	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:51824730T>C	ENST00000371117.3	-	36	6121	c.5846A>G	c.(5845-5847)gAg>gGg	p.E1949G	PKHD1_ENST00000340994.4_Missense_Mutation_p.E1949G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1949	G8 1.				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)					TTGGCCATTCTCCACTGTGAC	0.453000											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	140					0	0	1	0	0
GBX2	2637	broad.mit.edu	37	2	237074614	237074614	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:237074614G>A	ENST00000306318.4	-	2	1387	c.990C>T	c.(988-990)caC>caT	p.H330H	GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	330						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		ACCTGCTGACGTGGACAGGGA	0.627000													10	73					0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152759947	152759947	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:152759947G>T	ENST00000368770.3	+	2	225	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C	LCE1E_ENST00000368771.1_Missense_Mutation_p.G58C	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	58	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTCTGGGGGCAGCTGTGG	0.662000													25	141					4.26978e-12	6.23307e-12	1	1	0
EEFSEC	60678	broad.mit.edu	37	3	127981045	127981045	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:127981045A>T	ENST00000254730.6	+	3	653	c.599A>T	c.(598-600)cAg>cTg	p.Q200L	EEFSEC_ENST00000483457.1_Missense_Mutation_p.Q200L	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	200						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GAAGCTCCACAGGGCATTCCA	0.582000													18	107					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189392	124189392	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:124189392T>A	ENST00000357438.2	-	1	792	c.702A>T	c.(700-702)caA>caT	p.Q234H		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGGCTTTGGATTGCCCCTCAG	0.433000													23	113					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108439090	108439090	+	Splice_Site	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:108439090C>G	ENST00000263054.6	-	12	1671	c.1663_splice	c.e12-1	p.G555_splice	SORCS1_ENST00000369698.1_Splice_Site_p.G90_splice|SORCS1_ENST00000344440.6_Splice_Site_p.G555_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	555						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACCTATATTACCTAGAAAGAG	0.418000													15	58					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935751	30935751	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:30935751T>A	ENST00000355537.3	+	2	1429	c.1282T>A	c.(1282-1284)Tcc>Acc	p.S428T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAACCTGTACTCCAGGTACCT	0.642000													5	71					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86305393	86305393	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:86305393C>G	ENST00000263857.6	-	10	1479	c.1101G>C	c.(1099-1101)ttG>ttC	p.L367F	POLR1A_ENST00000409681.1_Missense_Mutation_p.L367F			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	367					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAATAGCAATCAAAGAGTCTT	0.408000													7	68					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149102	34149102	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:34149102G>A	ENST00000346193.3	-	1	1345	c.1294C>T	c.(1294-1296)Ctg>Ttg	p.L432L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	432										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCAGAATCCAGCACTTTCAGT	0.547000													18	20					0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	37100530	37100530	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:37100530G>T	ENST00000566621.1	+	11	972	c.722G>T	c.(721-723)gGg>gTg	p.G241V	C15orf41_ENST00000562877.1_Missense_Mutation_p.G143V|C15orf41_ENST00000563167.1_Missense_Mutation_p.W3C|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000562489.1_Missense_Mutation_p.G65V|C15orf41_ENST00000437989.2_Missense_Mutation_p.G241V|C15orf41_ENST00000569302.1_Missense_Mutation_p.G247V|C15orf41_ENST00000567389.1_Missense_Mutation_p.G143V|C15orf41_ENST00000338183.4_Missense_Mutation_p.G143V	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	241							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		TACAGATTTGGGCCAGGCTTA	0.448000													14	46					1.49906e-05	1.77249e-05	1	1	0
KIF13B	23303	broad.mit.edu	37	8	28976417	28976417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:28976417C>A	ENST00000524189.1	-	30	3666	c.3628G>T	c.(3628-3630)Gaa>Taa	p.E1210*	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1210					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATCTGCAATTCAAAGAACTCC	0.463000													23	65					1.10923e-09	1.513e-09	1	1	0
FREM2	341640	broad.mit.edu	37	13	39450188	39450188	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:39450188G>T	ENST00000280481.7	+	19	8527	c.8311G>T	c.(8311-8313)Gct>Tct	p.A2771S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2771					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATCATGTCAGCTGATCATCC	0.423000													35	94					6.00712e-18	9.67281e-18	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9136722	9136722	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:9136722C>A	ENST00000382496.5	-	13	2158	c.1493G>T	c.(1492-1494)gGg>gTg	p.G498V		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	498					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTCCTGGGCCCCAATGCAGGT	0.527000													6	77					0.00116845	0.00126781	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54805281	54805281	+	Silent	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:54805281T>C	ENST00000306858.7	+	5	1628	c.1512T>C	c.(1510-1512)caT>caC	p.H504H		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	504										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAAATGATCATTCAGAAGCTA	0.403000													11	118					0	0	1	0	0
ARRDC1	92714	broad.mit.edu	37	9	140509144	140509144	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:140509144C>T	ENST00000371421.4	+	7	993	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	310	Pro-rich.									breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GTGGTGCCTTCCGCACCACCC	0.682000													4	57					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178063796	178063796	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:178063796G>T	ENST00000448150.3	+	1	933	c.115G>T	c.(115-117)Gtg>Ttg	p.V39L	RASAL2_ENST00000367649.3_Missense_Mutation_p.V57L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCTGGAGTCCGTGTGCCAGCA	0.607000													14	21					6.72482e-11	9.53393e-11	1	1	0
ZNF492	57615	broad.mit.edu	37	19	22836767	22836767	+	Missense_Mutation	SNP	G	G	T	rs111905502		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:22836767G>T	ENST00000456783.2	+	3	324	c.80G>T	c.(79-81)gGa>gTa	p.G27V		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CTGGAGCAAGGAAAAGAACCT	0.423000													38	93					1.8453e-21	3.1001e-21	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23509620	23509620	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:23509620G>T	ENST00000296682.3	+	3	293	c.111G>T	c.(109-111)aaG>aaT	p.K37N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	37	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						ACTTCACCAAGGAAGAATGGG	0.413000										HNSCC(3;0.000094)			16	283					1.52009e-12	2.24506e-12	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110488847	110488847	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:110488847G>T	ENST00000378402.5	+	52	8972	c.8868G>T	c.(8866-8868)aaG>aaT	p.K2956N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2956					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATACTAGCAAGAATGGGGACT	0.333000										HNSCC(38;0.096)			3	8					1	1	1	1	0
MKRN3	7681	broad.mit.edu	37	15	23811918	23811918	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:23811918G>C	ENST00000314520.3	+	1	1465	c.989G>C	c.(988-990)gGc>gCc	p.G330A	MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	330						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CGCCGCTTTGGCATTCTTTCC	0.507000													12	78					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799110	57799110	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:57799110T>C	ENST00000302622.3	+	1	709	c.686T>C	c.(685-687)cTg>cCg	p.L229P	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GTCTGGACACTGCTGCACATC	0.537000													29	95					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166904632	166904632	+	Silent	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:166904632G>C	ENST00000271417.3	-	6	841	c.786C>G	c.(784-786)gtC>gtG	p.V262V	ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Silent_p.V262V|ILDR2_ENST00000529071.1_Silent_p.V243V|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000526687.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	262						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CTCCCAAAGGGACAGAGGGGA	0.592000													9	96					0	0	1	0	0
SPPL2A	84888	broad.mit.edu	37	15	51017460	51017460	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:51017460T>A	ENST00000261854.5	-	12	1481	c.1207A>T	c.(1207-1209)Atg>Ttg	p.M403L	SPPL2A_ENST00000559293.1_5'UTR	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	403						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GAAACAGGCATGAGGCACACA	0.313000													22	102					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231113674	231113674	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:231113674G>A	ENST00000392045.3	+	9	1081	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	SP140_ENST00000350136.5_Missense_Mutation_p.E253K|SP140_ENST00000420434.3_Missense_Mutation_p.E323K|SP140_ENST00000343805.6_Missense_Mutation_p.E297K|SP140_ENST00000417495.3_Missense_Mutation_p.E270K|SP140_ENST00000486687.2_Missense_Mutation_p.E247K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	323					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACTACCAGGTGAAGGAGAAGG	0.378000													17	58					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082681	152082681	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:152082681C>T	ENST00000368804.1	-	2	3011	c.3012G>A	c.(3010-3012)ctG>ctA	p.L1004L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1004	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gttcctctctcagcagctgct	0.582000													15	167					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029450	71029450	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:71029450C>A	ENST00000334414.6	-	2	496		c.e2+1		PTPRB_ENST00000538174.2_Splice_Site|PTPRB_ENST00000551525.1_Splice_Site|PTPRB_ENST00000550358.1_Splice_Site	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAATAGCTCACCTTTTTGTAA	0.378000													6	32					0.00116845	0.00126781	1	1	0
HEPHL1	341208	broad.mit.edu	37	11	93796685	93796685	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:93796685C>G	ENST00000315765.9	+	3	435	c.427C>G	c.(427-429)Cca>Gca	p.P143A		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	143	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGCCCTATACCCAGATGGAAC	0.408000													9	14					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21422450	21422450	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:21422450C>T	ENST00000313654.9	+	28	3669	c.3428C>T	c.(3427-3429)gCg>gTg	p.A1143V	LAMA3_ENST00000399516.3_Missense_Mutation_p.A1143V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1143	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGTTTCCCGCGCAGGTGTCG	0.597000													7	100					0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216720	26216720	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:26216720G>C	ENST00000244601.3	-	1	152	c.152C>G	c.(151-153)cCc>cGc	p.P51R		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	51					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GCCAGTATCGGGGTGAACCTG	0.542000													40	155					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6525494	6525494	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:6525494C>G	ENST00000263125.5	-	11	1186	c.1087G>C	c.(1087-1089)Gaa>Caa	p.E363Q	PRKCQ_ENST00000397176.2_Missense_Mutation_p.E363Q|PRKCQ_ENST00000539722.1_Missense_Mutation_p.E238Q	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	363					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTGTTCAGTTCAGGTTCTGGA	0.413000													6	121					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151491571	151491571	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:151491571G>T	ENST00000271636.7	+	2	709	c.576G>T	c.(574-576)caG>caT	p.Q192H		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	186	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGGAGGCCAGGCCCGGGGTC	0.607000													13	262					2.27111e-07	2.87417e-07	1	1	0
FAM65B	9750	broad.mit.edu	37	6	24871099	24871099	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:24871099C>A	ENST00000259698.4	-	5	530	c.355G>T	c.(355-357)Gac>Tac	p.D119Y	FAM65B_ENST00000378023.4_Missense_Mutation_p.D119Y|FAM65B_ENST00000538035.1_Missense_Mutation_p.D148Y|FAM65B_ENST00000510784.2_Missense_Mutation_p.D153Y|FAM65B_ENST00000540914.1_Missense_Mutation_p.D119Y	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	119					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CTTACCTTGTCTAGGTCATAC	0.423000													5	11					0.217242	0.218543	1	1	0
PROM2	150696	broad.mit.edu	37	2	95940352	95940352	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:95940352C>T	ENST00000317620.9	+	1	152	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	PROM2_ENST00000317668.4_Silent_p.L7L|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Silent_p.L7L|PROM2_ENST00000403131.2_Silent_p.L7L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	7						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CACACTGGCTCTGCTGGCTCC	0.647000													6	66					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614710	247614710	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:247614710G>C	ENST00000318749.6	-	1	598	c.575C>G	c.(574-576)tCg>tGg	p.S192W		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S192L(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCAGCACACGACAGCTTGAT	0.557000													17	65					0	0	1	0	0
MTFP1	51537	broad.mit.edu	37	22	30823237	30823237	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:30823237C>A	ENST00000439838.1	+	8	791	c.791C>A	c.(790-792)tCt>tAt	p.S264Y	MTFP1_ENST00000266263.5_Missense_Mutation_p.S92Y|MTFP1_ENST00000407550.3_Missense_Mutation_p.S69Y|MTFP1_ENST00000355143.4_Intron																							GCTCTAGCCTCTGTGGCCATT	0.647000													9	189					3.09899e-07	3.89985e-07	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30747679	30747679	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:30747679C>T	ENST00000262518.4	+	32	7273	c.6888C>T	c.(6886-6888)tcC>tcT	p.S2296S	SRCAP_ENST00000395059.2_Silent_p.S2234S|SRCAP_ENST00000344771.4_Silent_p.S2138S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2296	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGAGATGTCCCGGGCTGAGC	0.557000													19	36					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120589172	120589172	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:120589172G>A	ENST00000300648.6	-	34	4098	c.4086C>T	c.(4084-4086)tgC>tgT	p.C1362C		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1362					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGTGGCAAGCAGCTGGCTA	0.597000													16	24					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849179	98849179	+	RNA	SNP	T	T	C	rs57350646	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:98849179T>C	ENST00000554295.1	-	0	1744					NR_033801.1																						ATCTGGGCTGTCCCCTTGTAA	0.498000													3	23					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155608	111155608	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:111155608G>C	ENST00000262839.2	-	3	1729	c.811C>G	c.(811-813)Cat>Gat	p.H271D		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	271					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCATCTCGATGGTTGAGGATG	0.527000													55	59					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697067	48697067	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:48697067G>A	ENST00000544264.1	-	1	3281	c.3001C>T	c.(3001-3003)Cag>Tag	p.Q1001*	CELSR3_ENST00000164024.4_Nonsense_Mutation_p.Q1001*			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1001	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCACCATTCTGGAAAGTGTAC	0.547000													9	58					0	0	1	0	0
TXNDC9	10190	broad.mit.edu	37	2	99944032	99944032	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:99944032C>T	ENST00000264255.3	-	3	529	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	TXNDC9_ENST00000409434.1_Missense_Mutation_p.V92M	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	92	Thioredoxin.				cell redox homeostasis		protein binding			lung(1)	1						TGGCAAACCACATTTTCACTC	0.383000													17	67					0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103446052	103446052	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:103446052C>A	ENST00000376004.4	-	3	829	c.493G>T	c.(493-495)Gca>Tca	p.A165S	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	165						endoplasmic reticulum lumen		p.A165S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGGAAATGTGCCAGATCTCTC	0.463000													38	200					1.58521e-26	2.73377e-26	1	1	0
IGHV4-28	28400	broad.mit.edu	37	14	106780765	106780765	+	RNA	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:106780765A>T	ENST00000390612.2	-	0	170																											GGGTGTCCGAAGGCTTCACCA	0.632000													7	101					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561806	142561806	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:142561806G>A	ENST00000392957.2	+	7	1035	c.248G>A	c.(247-249)gGc>gAc	p.G83D	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G83D	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	83						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCCCCTCCAGGCACCGGGCAG	0.642000													25	214					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44474152	44474152	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:44474152C>T	ENST00000372310.3	-	5	628	c.463G>A	c.(463-465)Gac>Aac	p.D155N	SLC6A9_ENST00000475075.2_Missense_Mutation_p.D44N|SLC6A9_ENST00000537678.1_Missense_Mutation_p.D90N|SLC6A9_ENST00000360584.2_Missense_Mutation_p.D228N|SLC6A9_ENST00000372307.3_Missense_Mutation_p.D90N|SLC6A9_ENST00000357730.2_Missense_Mutation_p.D174N|SLC6A9_ENST00000372306.3_Missense_Mutation_p.D155N	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	228						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCGGCGCAGTCATGCGTGTTC	0.592000													5	89					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804697	54804697	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:54804697G>T	ENST00000306858.7	+	5	1044	c.928G>T	c.(928-930)Gtg>Ttg	p.V310L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	310										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCAGCATTCGGTGTCTTCATT	0.428000													14	97					9.05144e-12	1.31562e-11	1	1	0
PSG8	440533	broad.mit.edu	37	19	43268158	43268158	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:43268158G>T	ENST00000404209.4	-	2	436	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.Q114K|PSG8_ENST00000401467.2_Missense_Mutation_p.Q114K	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	114	Ig-like V-type.					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)				GCGTCTTCCTGGGTGACATTC	0.418000													85	697					2.14232e-31	3.72e-31	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27802028	27802028	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:27802028C>T	ENST00000408964.2	+	1	2640	c.2589C>T	c.(2587-2589)ctC>ctT	p.L863L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	863										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAAAGGTCTCATCAAGTCTT	0.488000													5	77					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50118032	50118032	+	RNA	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:50118032C>T	ENST00000376025.2	-	0	3497							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AATGTAACATCTACGGCATCA	0.458000													9	10					0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75066999	75066999	+	Silent	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:75066999A>G	ENST00000395759.2	+	5	651	c.624A>G	c.(622-624)aaA>aaG	p.K208K	MTHFD2L_ENST00000325278.6_Silent_p.K150K|MTHFD2L_ENST00000331145.6_Silent_p.K150K|MTHFD2L_ENST00000433372.1_Silent_p.K73K	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	150					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			CATTTGGAAAAAATGTGGTTG	0.398000													15	32					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43614456	43614456	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:43614456C>T	ENST00000360835.3	-	15	1822	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	566					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGTCCGCTTCGCATGTGTCT	0.622000													5	84					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169562913	169562913	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:169562913C>A	ENST00000263686.6	-	14	2374	c.2337G>T	c.(2335-2337)gtG>gtT	p.V779V	SELP_ENST00000458599.2_Silent_p.V595V|SELP_ENST00000367786.2_Silent_p.V717V|SELP_ENST00000367794.2_Silent_p.V717V|SELP_ENST00000367793.2_Silent_p.V717V|SELP_ENST00000367788.2_Silent_p.V717V|SELP_ENST00000367792.2_Silent_p.V595V|SELP_ENST00000367791.2_Silent_p.V593V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	779					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCGTAGAAGCCACCGCTCCAC	0.438000													10	60					0.000442599	0.000489726	1	1	0
PIK3C2A	5286	broad.mit.edu	37	11	17191091	17191091	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:17191091C>T	ENST00000265970.7	-	1	197	c.198G>A	c.(196-198)caG>caA	p.Q66Q	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	66	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TGTTATAAACCTGTGCTTTTT	0.403000													22	202					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147051347	147051347	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:147051347T>A	ENST00000265272.5	-	2	490	c.23A>T	c.(22-24)aAg>aTg	p.K8M	JAKMIP2_ENST00000333010.6_Intron|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.K8M	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	8						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTCGCCCTTATTTCGCCC	0.458000													5	39					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100354650	100354650	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:100354650T>C	ENST00000273352.3	+	5	845	c.577T>C	c.(577-579)Tcc>Ccc	p.S193P	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	193					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTCAACACTTCCAGAAATGC	0.368000													4	65					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102912241	102912241	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:102912241C>A	ENST00000312132.4	-	0	2338																											GTAAGCCTGTCATTCATAATC	0.323000													6	53					0.00116845	0.00126781	1	1	0
PLOD3	8985	broad.mit.edu	37	7	100860066	100860066	+	Splice_Site	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:100860066C>T	ENST00000223127.3	-	2	509	c.109_splice	c.e2-1	p.E37_splice		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	37					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCAGCAGCTTCTCTGTTACCA	0.582000													5	13					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771309	99771309	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:99771309G>T	ENST00000370185.3	+	7	1532	c.1035G>T	c.(1033-1035)agG>agT	p.R345S	LPPR4_ENST00000457765.1_Missense_Mutation_p.R287S|LPPR4_ENST00000370184.1_Missense_Mutation_p.R187S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		345							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ACGCCCTCAGGTCTCTGACAG	0.453000													45	67					7.66079e-34	1.33484e-33	1	1	0
TLL1	7092	broad.mit.edu	37	4	166924548	166924548	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:166924548G>T	ENST00000061240.2	+	6	1285	c.638G>T	c.(637-639)tGc>tTc	p.C213F	TLL1_ENST00000513213.1_Missense_Mutation_p.C213F|TLL1_ENST00000507499.1_Missense_Mutation_p.C213F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	213	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCCAGATGCTGCTCCTATGTA	0.418000													16	43					2.23348e-06	2.72891e-06	1	1	0
P4HA2	8974	broad.mit.edu	37	5	131539826	131539826	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:131539826C>A	ENST00000401867.1	-	10	1668	c.1100G>T	c.(1099-1101)cGt>cTt	p.R367L	P4HA2_ENST00000379104.2_Missense_Mutation_p.R367L|P4HA2_ENST00000379100.2_Missense_Mutation_p.R367L|P4HA2_ENST00000379086.1_Missense_Mutation_p.R367L|P4HA2_ENST00000166534.4_Missense_Mutation_p.R367L|P4HA2_ENST00000360568.3_Missense_Mutation_p.R367L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	367						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTTGGGATCACGAACGGTGGC	0.507000													17	69					1.15088e-07	1.47781e-07	1	1	0
YIF1A	10897	broad.mit.edu	37	11	66055592	66055592	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:66055592C>T	ENST00000376901.4	-	2	387	c.203G>A	c.(202-204)aGc>aAc	p.S68N	YIF1A_ENST00000359461.6_Missense_Mutation_p.S68N|YIF1A_ENST00000471387.2_Intron	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	68					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						TGCGATGGAGCTGCCATAGGC	0.622000													75	158					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226516204	226516204	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:226516204C>T	ENST00000272907.6	+	6	2298	c.1885C>T	c.(1885-1887)Cca>Tca	p.P629S		NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	629																	TGTGCCTCCTCCATCAGTCAC	0.498000													10	197					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11217213	11217213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:11217213C>A	ENST00000361445.4	-	30	4541	c.4465G>T	c.(4465-4467)Gaa>Taa	p.E1489*		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1489	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCTCACCATTCCCCCAAGGCC	0.547000													57	160					3.21867e-24	5.49902e-24	1	1	0
PPARG	5468	broad.mit.edu	37	3	12458242	12458242	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:12458242G>T	ENST00000397026.2	+	8	1176	c.793G>T	c.(793-795)Gaa>Taa	p.E265*	PPARG_ENST00000397010.2_Nonsense_Mutation_p.E259*|PPARG_ENST00000287820.6_Nonsense_Mutation_p.E287*|PPARG_ENST00000309576.6_Nonsense_Mutation_p.E259*|PPARG_ENST00000397015.2_Nonsense_Mutation_p.E259*|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397012.2_Nonsense_Mutation_p.E259*			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	287	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AATGATGGGAGAAGATAAAAT	0.468000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						23	27					5.26018e-13	7.82044e-13	1	1	0
CENPE	1062	broad.mit.edu	37	4	104032029	104032029	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:104032029C>A	ENST00000265148.3	-	47	7769	c.7680G>T	c.(7678-7680)aaG>aaT	p.K2560N	CENPE_ENST00000380026.3_Missense_Mutation_p.K2439N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2560	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CATTTTGCTGCTTTAACTTAG	0.328000													4	41					0.150653	0.152316	1	1	0
UBE2E3	10477	broad.mit.edu	37	2	181922478	181922478	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:181922478G>T	ENST00000410062.4	+	4	697	c.304G>T	c.(304-306)Ggt>Tgt	p.G102C	UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000602710.1_Missense_Mutation_p.G102C|UBE2E3_ENST00000392415.2_Missense_Mutation_p.G102C|UBE2E3_ENST00000602959.1_Missense_Mutation_p.G102C	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	102					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						TGGTCCACCGGGTTCTGTATA	0.343000													6	111					0.0215528	0.022248	1	1	0
BPIFB2	80341	broad.mit.edu	37	20	31601730	31601730	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:31601730G>T	ENST00000170150.3	+	5	618	c.423G>T	c.(421-423)tcG>tcT	p.S141S		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	141						extracellular region	lipid binding										CTTTATTCTCGGGCCACGCCA	0.597000													8	39					5.18039e-06	6.26871e-06	1	1	0
C1orf141	400757	broad.mit.edu	37	1	67560950	67560950	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:67560950C>A	ENST00000371007.2	-	7	680	c.571G>T	c.(571-573)Gtt>Ttt	p.V191F	C1orf141_ENST00000371006.1_Missense_Mutation_p.V191F|C1orf141_ENST00000544837.1_Missense_Mutation_p.V191F	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	191										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						GTTGGACTAACGTTGACTATC	0.338000													10	35					2.27111e-07	2.87417e-07	1	1	0
NSD1	64324	broad.mit.edu	37	5	176710860	176710860	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:176710860G>A	ENST00000439151.2	+	20	6127	c.6082G>A	c.(6082-6084)Gaa>Aaa	p.E2028K	NSD1_ENST00000347982.4_Missense_Mutation_p.E1759K|NSD1_ENST00000354179.4_Missense_Mutation_p.E1759K|NSD1_ENST00000361032.4_Missense_Mutation_p.E1925K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2028	SET.				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)		GCCCAACTGTGAAACACAGAA	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			8	124					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24952479	24952479	+	Missense_Mutation	SNP	C	C	T	rs1049032		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:24952479C>T	ENST00000405141.1	+	18	3707	c.2996C>T	c.(2995-2997)tCt>tTt	p.S999F	NCOA1_ENST00000407230.1_Missense_Mutation_p.S848F|NCOA1_ENST00000406961.1_Missense_Mutation_p.S999F|NCOA1_ENST00000395856.3_Missense_Mutation_p.S999F|NCOA1_ENST00000348332.3_Missense_Mutation_p.S999F|NCOA1_ENST00000288599.5_Missense_Mutation_p.S999F|NCOA1_ENST00000538539.1_Missense_Mutation_p.S999F			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	999			S -> F (in dbSNP:rs1049032).						PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTCCTTCTCCTACTGCC	0.478000			T	PAX3	alveolar rhadomyosarcoma								18	102					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450529	85450529	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:85450529G>A	ENST00000393217.2	+	8	2019	c.1958G>A	c.(1957-1959)aGt>aAt	p.S653N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	653										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCTTGGAATAGTGGCATTGTG	0.328000													9	47					0	0	1	0	0
GNB1L	54584	broad.mit.edu	37	22	19776300	19776300	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:19776300C>T	ENST00000329517.6	-	8	1152	c.916G>A	c.(916-918)Gat>Aat	p.D306N	GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.D306N|GNB1L_ENST00000405009.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	306					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					AGCAAGCCATCGGCGGTGAAG	0.677000													5	40					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7290522	7290522	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:7290522C>A	ENST00000361972.4	-	8	1050	c.960G>T	c.(958-960)gcG>gcT	p.A320A	SFMBT2_ENST00000397167.1_Silent_p.A320A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	320					regulation of transcription, DNA-dependent	nucleus		p.A320A(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TAGTCACCGACGCAGGAGAGA	0.493000													15	43					0.000422831	0.000469657	1	1	0
ACTN2	88	broad.mit.edu	37	1	236912553	236912553	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:236912553G>C	ENST00000366578.4	+	14	1811	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	ACTN2_ENST00000542672.1_Missense_Mutation_p.E549Q|ACTN2_ENST00000546208.1_Missense_Mutation_p.E43Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	549					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCACAGCATTGAGGAGATCCA	0.443000													6	66					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12874185	12874185	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:12874185G>A	ENST00000264827.5	-	22	2235	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L	HOOK2_ENST00000397668.3_Silent_p.L691L	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	691	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	p.L691M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TGCTGTGCCAGGAATGACTGG	0.637000													38	61					0	0	1	0	0
CNPY3	10695	broad.mit.edu	37	6	42902230	42902230	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:42902230G>T	ENST00000372836.4	+	2	540	c.169G>T	c.(169-171)Gtg>Ttg	p.V57L	CNPY3_ENST00000394142.3_Intron	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	57	Saposin B-type.				innate immune response	endoplasmic reticulum				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			ATATGTTGCTGTGGAGCTGAA	0.552000													18	57					1.99824e-07	2.55288e-07	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57829581	57829581	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:57829581C>A	ENST00000371030.2	+	5	4817	c.4817C>A	c.(4816-4818)cCc>cAc	p.P1606H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1606						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTCCCCTGCCCCTCTTTAGGA	0.493000													34	98					1.06647e-15	1.65385e-15	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228882064	228882064	+	Missense_Mutation	SNP	C	C	G	rs146340069		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:228882064C>G	ENST00000392056.3	-	7	3552	c.3506G>C	c.(3505-3507)cGg>cCg	p.R1169P	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1169P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1169						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTCACTTTTCCGGCACGCCTG	0.517000													5	64					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46890545	46890545	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:46890545G>T	ENST00000378623.1	-	32	5073	c.4831C>A	c.(4831-4833)Cag>Aag	p.Q1611K	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1611					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCACCTGTCTGCCGCTGAGGG	0.542000													19	74					6.94344e-10	9.52892e-10	1	1	0
THAP6	152815	broad.mit.edu	37	4	76442141	76442141	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:76442141G>A	ENST00000311638.3	+	3	308	c.240G>A	c.(238-240)ctG>ctA	p.L80L	THAP6_ENST00000507556.1_Silent_p.L80L|THAP6_ENST00000504190.1_Silent_p.L39L|THAP6_ENST00000380837.3_Silent_p.L80L|THAP6_ENST00000514480.1_Silent_p.L80L|THAP6_ENST00000508105.1_Silent_p.L39L|THAP6_ENST00000502620.1_Silent_p.L39L|THAP6_ENST00000507557.1_Silent_p.L39L|THAP6_ENST00000507885.1_Silent_p.L39L	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	80						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATATTAAACTGAAACCTGGAG	0.368000													10	35					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206592625	206592625	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:206592625G>T	ENST00000360409.3	+	7	1792	c.1001G>T	c.(1000-1002)cGc>cTc	p.R334L	NRP2_ENST00000357118.4_Missense_Mutation_p.R334L|NRP2_ENST00000355117.4_Missense_Mutation_p.R334L|NRP2_ENST00000417189.1_Missense_Mutation_p.R334L|NRP2_ENST00000412873.2_Missense_Mutation_p.R334L|NRP2_ENST00000272849.3_Missense_Mutation_p.R334L|NRP2_ENST00000540178.1_Missense_Mutation_p.R334L|NRP2_ENST00000357785.5_Missense_Mutation_p.R334L|NRP2_ENST00000540841.1_Missense_Mutation_p.R334L	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	334	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GTGGACCTGCGCTTTTTAACC	0.483000													3	24					0.004672	0.00494163	1	1	0
OR2L2	26246	broad.mit.edu	37	1	248201636	248201636	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:248201636G>T	ENST00000366479.2	+	1	163	c.67G>T	c.(67-69)Ggc>Tgc	p.G23C	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATCAAGAATTGGCCTTTTCGT	0.388000													27	282					4.87955e-14	7.38527e-14	1	1	0
HIST1H3J	8356	broad.mit.edu	37	6	27858295	27858295	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:27858295C>G	ENST00000359303.2	-	1	275	c.276G>C	c.(274-276)gcG>gcC	p.A92A		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	92					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CCTCTTGCAGCGCCATCACCG	0.552000													11	70					0	0	1	0	0
POLB	5423	broad.mit.edu	37	8	42206594	42206594	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:42206594C>T	ENST00000265421.4	+	4	417	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	POLB_ENST00000538005.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	83					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TGGAAAATTACGTAAACTGGA	0.318000								DNA polymerases (catalytic subunits)					7	46					0	0	1	0	0
C9orf142	286257	broad.mit.edu	37	9	139887515	139887515	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:139887515G>A	ENST00000371620.3	+	4	267	c.241G>A	c.(241-243)Gag>Aag	p.E81K	C9orf142_ENST00000493968.1_3'UTR	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142	81												all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGCAGCCTGTGAGCAGCAAGC	0.652000													10	49					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55151573	55151573	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:55151573T>A	ENST00000257290.5	+	17	2690	c.2359T>A	c.(2359-2361)Tca>Aca	p.S787T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S547T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	787	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGATGATAACTCAGAAGGCCT	0.413000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			25	38					0	0	1	0	0
FOXC2	2303	broad.mit.edu	37	16	86601483	86601483	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:86601483C>G	ENST00000320354.4	+	1	627	c.542C>G	c.(541-543)gCc>gGc	p.A181G		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	181					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GAGGAGCGGGCCCACCTCAAG	0.677000									Late-onset Hereditary Lymphedema				9	51					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118461337	118461337	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:118461337C>T	ENST00000369443.4	-	3	447	c.198G>A	c.(196-198)ctG>ctA	p.L66L	GDAP2_ENST00000369442.3_Silent_p.L66L	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	66	Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CTGTACAGTTCAGTAATGCCA	0.368000													5	60					0	0	1	0	0
SDR39U1	56948	broad.mit.edu	37	14	24911971	24911971	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:24911971C>G	ENST00000399395.3	-	1	38	c.5G>C	c.(4-6)cGt>cCt	p.R2P	SDR39U1_ENST00000555365.1_5'UTR|SDR39U1_ENST00000553930.1_Intron	NM_020195.2	NP_064580.2	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U, member 1	0							binding			NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						CACAAGCACACGCATAGCGAC	0.592000													11	184					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890765	32890765	+	RNA	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:32890765G>A	ENST00000330048.5	-	0	3115					NR_003083.2																						GCAAACCAGCGGGGTGAAGAA	0.647000													5	28					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142575447	142575447	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:142575447G>A	ENST00000359396.3	-	3	551	c.306C>T	c.(304-306)gcC>gcT	p.A102A	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	102	Interaction with calmodulin (By similarity).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCAGCTCCGGGGCAGCCTCCA	0.582000													44	90					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55445024	55445024	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:55445024C>G	ENST00000588756.1	-	10	3041	c.2555G>C	c.(2554-2556)tGc>tCc	p.C852S	NLRP7_ENST00000448121.2_Missense_Mutation_p.C824S|NLRP7_ENST00000590030.1_Missense_Mutation_p.C852S|NLRP7_ENST00000328092.5_Missense_Mutation_p.C824S|NLRP7_ENST00000446217.1_Missense_Mutation_p.C880S|NLRP7_ENST00000592784.1_Missense_Mutation_p.C852S|NLRP7_ENST00000340844.2_Missense_Mutation_p.C852S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	852							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTTGGCCAAGCACAGGTGTGT	0.488000													11	88					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9512404	9512404	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:9512404G>A	ENST00000402466.1	+	20	3460	c.2692G>A	c.(2692-2694)Gca>Aca	p.A898T	SETD5_ENST00000406341.1_Missense_Mutation_p.A996T|SETD5_ENST00000302463.6_Missense_Mutation_p.A898T|SETD5_ENST00000407969.1_Missense_Mutation_p.A1015T|SETD5_ENST00000402198.1_Missense_Mutation_p.A996T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	996										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TATGCCTCGAGCAGATGGACT	0.488000													28	44					0	0	1	0	0
NOP10	55505	broad.mit.edu	37	15	34634191	34634191	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:34634191T>A	ENST00000328848.4	-	2	276	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	NOP10_ENST00000557912.1_3'UTR	NM_018648.3	NP_061118.1	Q9NPE3	NOP10_HUMAN	NOP10 ribonucleoprotein	58					pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			lung(1)|ovary(1)	2						GCGCGGTTGCTGGGTCATGAG	0.542000													8	21					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81572084	81572084	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:81572084C>T	ENST00000394660.2	+	8	1410	c.1050C>T	c.(1048-1050)taC>taT	p.Y350Y	IL16_ENST00000302987.4_Silent_p.Y350Y	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	350	Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGCCCAATTACAGAATCATGG	0.592000													7	32					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2886902	2886902	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:2886902C>G	ENST00000602557.1	-	52	8352	c.7797G>C	c.(7795-7797)agG>agC	p.R2599S	CSMD1_ENST00000537824.1_Missense_Mutation_p.R2598S|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2599S|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2599S|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2598S|CSMD1_ENST00000520002.1_Missense_Mutation_p.R2599S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2599	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCGCAGGAGCCTCCAGCCTT	0.542000													4	19					0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709852	128709852	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:128709852G>A	ENST00000392665.2	-	2	431	c.287C>T	c.(286-288)tCt>tTt	p.S96F	KCNJ1_ENST00000392666.1_Missense_Mutation_p.S96F|KCNJ1_ENST00000440599.2_Missense_Mutation_p.S96F|KCNJ1_ENST00000392664.2_Missense_Mutation_p.S115F|KCNJ1_ENST00000324036.3_Missense_Mutation_p.S96F	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	115					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	p.S115F(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	GTGATTGGCAGAAGGATGGAA	0.453000													8	108					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94032010	94032010	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:94032010C>A	ENST00000282020.4	+	4	899	c.641C>A	c.(640-642)aCc>aAc	p.T214N	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.T119N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	214					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTCTTTGACACCATGAGAATA	0.413000													23	61					1.50039e-11	2.1652e-11	1	1	0
ERCC6	2074	broad.mit.edu	37	10	50686483	50686483	+	Nonsense_Mutation	SNP	G	G	A	rs121917901		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:50686483G>A	ENST00000355832.5	-	11	2281	c.2203C>T	c.(2203-2205)Cga>Tga	p.R735*	ERCC6_ENST00000542458.1_Nonsense_Mutation_p.R105*	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	735					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ATGGTATCTCGTAAGACACAT	0.388000								Direct reversal of damage;Nucleotide excision repair (NER)					60	153					0	0	1	0	0
LAT	27040	broad.mit.edu	37	16	28997869	28997869	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:28997869G>T	ENST00000395456.2	+	6	641	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	LAT_ENST00000395461.3_Missense_Mutation_p.V143L|LAT_ENST00000564277.1_Missense_Mutation_p.V106L|LAT_ENST00000354453.4_Missense_Mutation_p.V97L|LAT_ENST00000454369.2_Missense_Mutation_p.V106L|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000566177.1_Missense_Mutation_p.V106L|LAT_ENST00000360872.5_Missense_Mutation_p.V107L|RP11-264B17.3_ENST00000569969.1_RNA	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	107					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				AGCCAACAGTGTGGCGAGCTA	0.622000													22	41					6.44725e-10	8.88425e-10	1	1	0
MTNR1B	4544	broad.mit.edu	37	11	92715250	92715250	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:92715250G>T	ENST00000257068.2	+	2	867	c.861G>T	c.(859-861)gaG>gaT	p.E287D		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	287					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AGATCCCTGAGGGGCTATTTG	0.502000													31	249					2.08457e-15	3.22524e-15	1	1	0
POTEE	445582	broad.mit.edu	37	2	131976175	131976175	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:131976175A>G	ENST00000356920.5	+	1	294	c.200A>G	c.(199-201)cAc>cGc	p.H67R	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.H67R|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	67							ATP binding										TGGTGCCACCACTGCTTCCCC	0.582000													13	272					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61988161	61988161	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:61988161C>A	ENST00000392824.4	-	2	195	c.134G>T	c.(133-135)cGc>cTc	p.R45L	CSHL1_ENST00000309894.5_Missense_Mutation_p.R45L|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	45						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CTGGTGTGCGCGATGGGCTTG	0.577000													23	159					3.62473e-10	5.02576e-10	1	1	0
XKR7	343702	broad.mit.edu	37	20	30556528	30556528	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:30556528C>A	ENST00000217299.3	+	1	724	c.550C>A	c.(550-552)Ctc>Atc	p.L184I		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	184						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCTGCAGACCCTCGTCCACCT	0.706000													4	10					1.23904e-05	1.46677e-05	1	1	0
NEK7	140609	broad.mit.edu	37	1	198222169	198222169	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:198222169G>T	ENST00000367385.4	+	3	399		c.e3-1		NEK7_ENST00000538004.1_Splice_Site|NEK7_ENST00000367383.1_Splice_Site	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7							cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TTTAATTACAGAAGGCCTTAC	0.353000													15	53					4.14922e-12	6.07026e-12	1	1	0
CDH26	60437	broad.mit.edu	37	20	58571809	58571809	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:58571809C>T	ENST00000348616.4	+	13	2312	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	CDH26_ENST00000244047.5_Missense_Mutation_p.S671L|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Intron|CDH26_ENST00000350849.6_Intron	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	671					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AAAGGCACTTCAGCCCAGGTA	0.443000													32	165					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168671728	168671728	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:168671728G>T	ENST00000519560.1	-	3	741	c.322C>A	c.(322-324)Ctg>Atg	p.L108M	SLIT3_ENST00000332966.8_Missense_Mutation_p.L108M|SLIT3_ENST00000404867.3_Missense_Mutation_p.L108M|SLIT3_ENST00000521130.1_5'UTR	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	108					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGCTTCAGGTCCTGGAAG	0.433000													8	38					0.0581538	0.0593911	1	1	0
OR4K14	122740	broad.mit.edu	37	14	20482660	20482660	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:20482660G>T	ENST00000305045.2	-	1	692	c.693C>A	c.(691-693)gcC>gcA	p.A231A		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATGTGCTACCGGCAGCACGCT	0.488000													6	49					5.9392e-07	7.42768e-07	1	1	0
RAD17	5884	broad.mit.edu	37	5	68677881	68677881	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:68677881A>T	ENST00000509734.1	+	6	1216	c.538A>T	c.(538-540)Act>Tct	p.T180S	RAD17_ENST00000345306.6_Missense_Mutation_p.T169S|RAD17_ENST00000358030.2_Missense_Mutation_p.T4S|RAD17_ENST00000305138.4_Missense_Mutation_p.T169S|RAD17_ENST00000354868.5_Missense_Mutation_p.T169S|RAD17_ENST00000380774.3_Missense_Mutation_p.T180S|RAD17_ENST00000282891.6_Missense_Mutation_p.T83S|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Missense_Mutation_p.T169S|RAD17_ENST00000361732.2_Missense_Mutation_p.T169S|RAD17_ENST00000521422.1_Missense_Mutation_p.T4S			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	180					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GATGTTTAATACTGGTAAGAT	0.368000								Other conserved DNA damage response genes					11	63					0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45565454	45565454	+	Splice_Site	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:45565454G>C	ENST00000544944.2	+	10	1597		c.e10+1		CLASRP_ENST00000391953.4_Splice_Site|CLASRP_ENST00000221455.3_Splice_Site			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein						mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCTATAAGCGGTAAGTTGCTC	0.567000													11	98					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247901926	247901926	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:247901926C>G	ENST00000283225.2	+	1	10	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TATGACCAATCAGACACAGAT	0.378000													7	82					0	0	1	0	0
PLAUR	5329	broad.mit.edu	37	19	44160728	44160728	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:44160728C>G	ENST00000221264.4	-	4	801	c.375G>C	c.(373-375)atG>atC	p.M125I	PLAUR_ENST00000340093.3_Missense_Mutation_p.M125I|PLAUR_ENST00000339082.3_Missense_Mutation_p.M125I|PLAUR_ENST00000601723.1_Missense_Mutation_p.M125I	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	125	UPAR/Ly6 2.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCTCACAGCTCATGTCTGATG	0.592000													6	93					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94052998	94052998	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:94052998A>G	ENST00000553484.1	+	21	3014	c.2860A>G	c.(2860-2862)Aga>Gga	p.R954G	UNC79_ENST00000256339.4_Missense_Mutation_p.R777G|UNC79_ENST00000393151.2_Missense_Mutation_p.R954G|UNC79_ENST00000555664.1_Missense_Mutation_p.R954G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	954						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						GGTAACATTGAGACTAATATA	0.333000													5	51					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618493	77618493	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:77618493C>T	ENST00000521891.2	+	2	2618	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	ZFHX4_ENST00000455469.2_Silent_p.L724L|ZFHX4_ENST00000518282.1_Silent_p.L724L|ZFHX4_ENST00000050961.6_Silent_p.L724L|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	724						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)			GGACAAGCACCTGAACAATGT	0.512000										HNSCC(33;0.089)			17	35					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78133957	78133957	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:78133957G>T	ENST00000535157.1	+	4	350	c.180G>T	c.(178-180)agG>agT	p.R60S	SCEL_ENST00000377246.3_Missense_Mutation_p.R60S|SCEL_ENST00000349847.3_Missense_Mutation_p.R60S	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	60					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATTACGGTAGGGTGGTGCTCA	0.418000													46	180					2.43468e-25	4.18798e-25	1	1	0
FAM161B	145483	broad.mit.edu	37	14	74413269	74413269	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:74413269C>G	ENST00000286544.3	-	2	481	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	FAM161B_ENST00000534936.1_Missense_Mutation_p.E32Q	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GACAGCTCCTCTCCTGCCTCT	0.478000													8	148					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179603637	179603637	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:179603637C>A	ENST00000444136.1	+	8	1422	c.1172C>A	c.(1171-1173)cCa>cAa	p.P391Q	TDRD5_ENST00000367614.1_Missense_Mutation_p.P391Q|TDRD5_ENST00000294848.8_Missense_Mutation_p.P391Q	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	391					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GTCTCCAGTCCACCTAGAAAT	0.398000													28	115					7.01153e-11	9.91252e-11	1	1	0
SULF1	23213	broad.mit.edu	37	8	70536260	70536260	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:70536260G>C	ENST00000260128.4	+	15	2395	c.1678G>C	c.(1678-1680)Gaa>Caa	p.E560Q	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.E560Q|SULF1_ENST00000458141.2_Missense_Mutation_p.E560Q|SULF1_ENST00000419716.3_Missense_Mutation_p.E560Q	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	560					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)			CATAAATCTGGAAGAAGAAGA	0.453000													26	59					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94776180	94776180	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:94776180G>T	ENST00000341584.3	-	3	923	c.777C>A	c.(775-777)ggC>ggA	p.G259G		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	259					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)	CAGTCCCATTGCCCACGTAGT	0.557000													21	59					1.40151e-16	2.21256e-16	1	1	0
SNTG1	54212	broad.mit.edu	37	8	51617300	51617300	+	Silent	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:51617300A>G	ENST00000522124.1	+	16	1840	c.1179A>G	c.(1177-1179)gtA>gtG	p.V393V	SNTG1_ENST00000276467.5_Silent_p.V393V|SNTG1_ENST00000517473.1_Silent_p.V393V|SNTG1_ENST00000518864.1_Silent_p.V393V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	393					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)				TTCTAGAAGTAGAACGGATAC	0.507000													22	46					0	0	1	0	0
SOHLH1	402381	broad.mit.edu	37	9	138590927	138590927	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:138590927C>A	ENST00000298466.5	-	2	171	c.111G>T	c.(109-111)cgG>cgT	p.R37R	SOHLH1_ENST00000425225.1_Silent_p.R37R	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	37			R -> Q (in dbSNP:rs471525).		cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GGCCCGAGCCCCGGGCCGAGT	0.701000													9	24					0.000442599	0.000489726	1	1	0
DDX11	1663	broad.mit.edu	37	12	31256874	31256874	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:31256874G>A	ENST00000407793.2	+	27	3071	c.2820G>A	c.(2818-2820)gtG>gtA	p.V940V	DDX11_ENST00000545668.1_Silent_p.V940V|DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000542838.1_3'UTR|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	940					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTACAAAGGTGAAACCCAGGA	0.597000										Multiple Myeloma(12;0.14)			4	39					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56088670	56088670	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:56088670C>A	ENST00000257880.7	-	16	2439	c.2220G>T	c.(2218-2220)tcG>tcT	p.S740S	ITGA7_ENST00000553804.1_Silent_p.S700S|ITGA7_ENST00000555728.1_Silent_p.S740S|ITGA7_ENST00000347027.6_Silent_p.S690S|ITGA7_ENST00000394230.2_Silent_p.S700S|ITGA7_ENST00000257879.6_Silent_p.S696S|ITGA7_ENST00000452168.2_Silent_p.S603S|ITGA7_ENST00000394229.2_Silent_p.S696S			Q13683	ITA7_HUMAN	integrin, alpha 7	740					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGGCTGGGTCCGATGGCAGGT	0.617000													11	37					2.80697e-09	3.78013e-09	1	1	0
KCNIP3	30818	broad.mit.edu	37	2	96040954	96040954	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:96040954G>A	ENST00000295225.5	+	5	580	c.445G>A	c.(445-447)Gag>Aag	p.E149K	KCNIP3_ENST00000360990.3_Missense_Mutation_p.E127K|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Missense_Mutation_p.E123K	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	149	EF-hand 2.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CATCCACTTTGAGGTAGGTCC	0.602000													9	48					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15601444	15601444	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:15601444A>T	ENST00000342526.3	-	1	196	c.27T>A	c.(25-27)gaT>gaA	p.D9E		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	9					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAACTGAAACATCCTGCTGGG	0.433000													39	80					0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49401099	49401099	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:49401099C>T	ENST00000221399.3	-	2	171	c.27G>A	c.(25-27)atG>atA	p.M9I		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	9					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CTCACTCTCTCATCAATGTGT	0.517000													5	96					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780354	37780354	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:37780354G>T	ENST00000447769.1	+	4	648	c.359G>T	c.(358-360)tGc>tTc	p.C120F	GPR141_ENST00000334425.1_Missense_Mutation_p.C120F|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	120						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCTTCAAGTGCAAAGACAAA	0.483000													10	140					1.58986e-06	1.95437e-06	1	1	0
MED1	5469	broad.mit.edu	37	17	37571363	37571363	+	Missense_Mutation	SNP	G	G	A	rs1139821		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:37571363G>A	ENST00000300651.6	-	16	1638	c.1415C>T	c.(1414-1416)tCa>tTa	p.S472L	MED1_ENST00000394287.3_Missense_Mutation_p.S472L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	472	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.			DS -> GL (in Ref. 1; CAA73867).	androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CACATGTGTTGAGTCCTGCAC	0.418000										HNSCC(31;0.082)			11	253					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237729923	237729923	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:237729923G>T	ENST00000366574.2	+	28	3588	c.3271G>T	c.(3271-3273)Gag>Tag	p.E1091*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E1075*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E1089*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1091	4 X approximate repeats.|B30.2/SPRY 2.				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)			CTTCCGTGCCGAGAAGACCTA	0.557000													38	84					2.51541e-25	4.32316e-25	1	1	0
MFN2	9927	broad.mit.edu	37	1	12059061	12059061	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:12059061A>T	ENST00000235329.5	+	8	1047	c.725A>T	c.(724-726)cAc>cTc	p.H242L	MFN2_ENST00000444836.1_Missense_Mutation_p.H242L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	242					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CACTTCTTCCACAAGGTGAGT	0.577000													22	126					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107692542	107692542	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:107692542C>A	ENST00000388781.3	-	26	3999	c.3916_splice	c.e26+1	p.D1306_splice	LAMB4_ENST00000388780.3_Splice_Site_p.D1306_splice|LAMB4_ENST00000205386.4_Splice_Site_p.D1306_splice	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1306	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTTCCCTTACCCGCAATGCTT	0.413000													17	131					3.41278e-10	4.74167e-10	1	1	0
LRP2	4036	broad.mit.edu	37	2	170112703	170112703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:170112703C>A	ENST00000263816.3	-	19	2968	c.2683G>T	c.(2683-2685)Gag>Tag	p.E895*	LRP2_ENST00000443831.1_Nonsense_Mutation_p.E758*	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	895					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGCTGTGCTCAATTTTATCA	0.368000													16	56					2.32078e-09	3.14852e-09	1	1	0
WDR64	128025	broad.mit.edu	37	1	241850794	241850794	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:241850794A>G	ENST00000366552.2	+	7	1048	c.841A>G	c.(841-843)Atg>Gtg	p.M281V	WDR64_ENST00000437684.2_Missense_Mutation_p.M281V	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	281										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGACTGGGTTATGAAAATTAG	0.353000													10	102					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279715	114279715	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:114279715C>A	ENST00000357077.4	+	38	9994	c.9941C>A	c.(9940-9942)cCa>cAa	p.P3314Q	ANK2_ENST00000264366.6_Missense_Mutation_p.P3281Q|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3281					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)		ACTTCCACCCCAGCACCTCCA	0.428000													9	124					0.00621372	0.006562	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1893051	1893051	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:1893051G>T	ENST00000399161.2	-	16	3229	c.2482C>A	c.(2482-2484)Ccc>Acc	p.P828T	MYT1L_ENST00000428368.2_Missense_Mutation_p.P826T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	828					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATCCTCCGGGGTTTCATTTTG	0.542000													10	47					0.00829132	0.00872406	1	1	0
INTS12	57117	broad.mit.edu	37	4	106621078	106621078	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:106621078C>T	ENST00000451321.2	-	2	564	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	INTS12_ENST00000394735.1_Missense_Mutation_p.E29K|INTS12_ENST00000340139.5_Missense_Mutation_p.E29K	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	29					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TTTAGCTTTTCAGCAGAATCT	0.413000													7	127					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47630430	47630430	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:47630430G>T	ENST00000455779.1	+	14	1515	c.1330G>T	c.(1330-1332)Gca>Tca	p.A444S	PHKB_ENST00000566044.1_Missense_Mutation_p.A444S|PHKB_ENST00000299167.8_Missense_Mutation_p.A451S|PHKB_ENST00000323584.5_Missense_Mutation_p.A451S			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	451					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	p.A451T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTATATCATCGCAAAACTCCT	0.363000													41	225					8.20599e-20	1.35935e-19	1	1	0
SH3KBP1	30011	broad.mit.edu	37	X	19555848	19555848	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:19555848C>A	ENST00000397821.3	-	17	2233	c.1943G>T	c.(1942-1944)cGg>cTg	p.R648L	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.R387L|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.R611L|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.R410L	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	648					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CAACCGAAGCCGGATTTTCTT	0.438000													27	29					1.17739e-12	1.74019e-12	1	1	0
KIAA2026	158358	broad.mit.edu	37	9	5923224	5923224	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:5923224C>T	ENST00000399933.3	-	8	2771	c.2772G>A	c.(2770-2772)aaG>aaA	p.K924K	KIAA2026_ENST00000381461.2_Silent_p.K894K	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	924										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TAAGCAGTGTCTTCGGTAAGT	0.358000													5	88					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204066416	204066416	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:204066416C>G	ENST00000449802.1	+	49	7635	c.7302C>G	c.(7300-7302)atC>atG	p.I2434M		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2434							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCAAAATTATCTCACACATCA	0.343000													5	69					0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49951728	49951728	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:49951728T>G	ENST00000340652.3	+	4	1481	c.925T>G	c.(925-927)Tgg>Ggg	p.W309G	ZPBP_ENST00000491129.1_Intron	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	309					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GGAAGGCACATGGAGAATCGA	0.493000													9	71					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904165	5904165	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:5904165C>A	ENST00000378961.4	+	4	1579	c.1375C>A	c.(1375-1377)Cat>Aat	p.H459N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	459						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGCAAGGAGGCATCCACAAGG	0.537000													36	78					2.38352e-08	3.14681e-08	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53641508	53641508	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:53641508C>G	ENST00000342160.3	-	22	2705	c.2248G>C	c.(2248-2250)Gag>Cag	p.E750Q	HUWE1_ENST00000218328.8_Missense_Mutation_p.E750Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.E750Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	750					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATTAGGCTCAGTTTCATTT	0.418000													13	46					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2290851	2290851	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:2290851C>G	ENST00000381458.5	+	3	272	c.209C>G	c.(208-210)aCg>aGg	p.T70R		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	70					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCGGCCATGACGAAGGCTGTG	0.527000													17	156					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94041939	94041939	+	Missense_Mutation	SNP	C	C	A	rs414408		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:94041939C>A	ENST00000297268.6	+	25	1919	c.1448C>A	c.(1447-1449)gCt>gAt	p.A483D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	483			A -> V (in dbSNP:rs414408).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ATTGGCCCAGCTGGAGCAAGA	0.522000										HNSCC(75;0.22)			7	17					2.0095e-06	2.4627e-06	1	1	0
ZNF121	7675	broad.mit.edu	37	19	9676986	9676986	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:9676986G>A	ENST00000586602.1	-	6	1219	c.803C>T	c.(802-804)tCt>tTt	p.S268F	ZNF121_ENST00000320451.6_Missense_Mutation_p.S268F			P58317	ZN121_HUMAN	zinc finger protein 121	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AAGGCATGAAGAGCTTCTGAA	0.358000													7	104					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177030343	177030343	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:177030343C>A	ENST00000367654.2	-	2	355	c.342G>T	c.(340-342)gaG>gaT	p.E114D	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.E114D|ASTN1_ENST00000361833.2_Missense_Mutation_p.E114D|ASTN1_ENST00000367657.3_Missense_Mutation_p.E114D			O14525	ASTN1_HUMAN	astrotactin 1	114					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AAGTGCCATTCTCCAGCCACT	0.517000													56	145					6.20943e-19	1.01362e-18	1	1	0
FLRT2	23768	broad.mit.edu	37	14	86089223	86089223	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:86089223G>A	ENST00000330753.4	+	2	2132	c.1365G>A	c.(1363-1365)gtG>gtA	p.V455V	FLRT2_ENST00000554746.1_Silent_p.V455V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	455	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TCACATGGGTGAAAATGGGCC	0.502000													7	95					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944618	40944618	+	Silent	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:40944618G>C	ENST00000373198.3	-	12	2119	c.1884C>G	c.(1882-1884)gtC>gtG	p.V628V	PTPRT_ENST00000356100.2_Silent_p.V628V|PTPRT_ENST00000373201.1_Silent_p.V628V|PTPRT_ENST00000373184.1_Silent_p.V628V|PTPRT_ENST00000373190.1_Silent_p.V628V|PTPRT_ENST00000373187.1_Silent_p.V628V|PTPRT_ENST00000373193.3_Silent_p.V628V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	628	Fibronectin type-III 4.				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)				GCTCCTCCTTGACAACCAGCT	0.498000													32	76					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19510629	19510629	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:19510629G>A	ENST00000375267.2	-	16	1982	c.1979C>T	c.(1978-1980)tCt>tTt	p.S660F	UBR4_ENST00000375254.3_Missense_Mutation_p.S660F|UBR4_ENST00000375226.2_Missense_Mutation_p.S660F|UBR4_ENST00000375217.2_Missense_Mutation_p.S660F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	660					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCATGGAAGAGGTGATGAA	0.428000													6	72					0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340020	29340020	+	Missense_Mutation	SNP	G	G	C	rs143124552		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:29340020G>C	ENST00000269205.5	-	1	823	c.635C>G	c.(634-636)cCt>cGt	p.P212R	SLC25A52_ENST00000579441.2_Missense_Mutation_p.P202R	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	202					transport	integral to membrane|mitochondrial inner membrane											CGTTGCGGTAGGCAGATGCTC	0.453000													8	73					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20180730	20180730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:20180730C>A	ENST00000400331.5	-	7	2706	c.2398G>T	c.(2398-2400)Gga>Tga	p.G800*	MACC1_ENST00000332878.4_Nonsense_Mutation_p.G800*|MACC1_ENST00000589011.1_Nonsense_Mutation_p.G800*	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	800					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TAGTTATTTCCATAGTGAGCA	0.373000													45	92					3.05275e-18	4.93531e-18	1	1	0
ESRP1	54845	broad.mit.edu	37	8	95690554	95690554	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:95690554C>T	ENST00000433389.2	+	13	1965	c.1775C>T	c.(1774-1776)cCa>cTa	p.P592L	ESRP1_ENST00000454170.2_Missense_Mutation_p.P592L|ESRP1_ENST00000358397.5_Missense_Mutation_p.P588L|ESRP1_ENST00000423620.2_Missense_Mutation_p.P588L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	592					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCGTACTACCCAGCAGGCACT	0.502000													16	55					0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4861347	4861347	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:4861347T>A	ENST00000221957.4	-	2	236	c.60A>T	c.(58-60)gtA>gtT	p.V20V	PLIN3_ENST00000592528.1_Silent_p.V20V|PLIN3_ENST00000585479.1_Silent_p.V20V	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	20					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TCACCTGCTGTACCGGTTCTT	0.652000													15	98					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186335035	186335035	+	Missense_Mutation	SNP	G	G	T	rs148092737		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:186335035G>T	ENST00000411641.2	+	4	688	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	AHSG_ENST00000273784.5_Missense_Mutation_p.D158Y			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	157	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCCGCTGAACGACACCAGGGT	0.622000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	73					1.67942e-08	2.22597e-08	1	1	0
COL19A1	1310	broad.mit.edu	37	6	70639431	70639431	+	Missense_Mutation	SNP	C	C	G	rs150284256	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:70639431C>G	ENST00000322773.4	+	6	607	c.505C>G	c.(505-507)Cgt>Ggt	p.R169G		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	169	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.R169C(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTGTTTGATCGTCAGTGGCA	0.403000													28	38					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32841504	32841504	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:32841504C>A	ENST00000357033.4	-	5	471	c.264_splice	c.e5-1	p.V89_splice	DMD_ENST00000288447.4_Splice_Site_p.V81_splice|DMD_ENST00000378677.2_Splice_Site_p.V85_splice	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	89	Actin-binding.|CH 1.				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)				ACTAAATCAACCTGTTAAAGA	0.328000													9	35					1.12685e-05	1.34422e-05	1	1	0
HNRNPL	3191	broad.mit.edu	37	19	39328075	39328075	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:39328075C>T	ENST00000221419.5	-	12	2026	c.1660G>A	c.(1660-1662)Gat>Aat	p.D554N	AC104534.3_ENST00000594769.1_Silent_p.A170A|HNRNPL_ENST00000600873.1_Missense_Mutation_p.D421N	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	554					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCCAGGGCATCGCTCTTGGAT	0.502000													5	72					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150768924	150768924	+	Splice_Site	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:150768924G>A	ENST00000485713.1	+	15	3380	c.2340_splice	c.e15+1	p.S780_splice	SLC4A2_ENST00000461735.1_Splice_Site_p.S766_splice|SLC4A2_ENST00000392826.2_Splice_Site_p.S771_splice|SLC4A2_ENST00000310317.5_Splice_Site_p.S698_splice|SLC4A2_ENST00000413384.2_Splice_Site_p.S780_splice	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	780	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTCTTCTCGGTGAGGGCTC	0.667000													41	74					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	331763	331763	+	Silent	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:331763T>C	ENST00000400256.3	-	8	2175	c.1968A>G	c.(1966-1968)aaA>aaG	p.K656K		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	656	C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTACCATCTGTTTTTTTATCC	0.423000													10	49					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149174746	149174746	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:149174746C>A	ENST00000340622.3	-	5	901	c.621G>T	c.(619-621)tgG>tgT	p.W207C	ZNF746_ENST00000458143.2_Missense_Mutation_p.W207C			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	207					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCCCGGCTGCCCACGCCTCCA	0.672000													14	37					0.00185496	0.002003	1	1	0
OR51V1	283111	broad.mit.edu	37	11	5221796	5221796	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:5221796G>T	ENST00000321255.1	-	1	134	c.135C>A	c.(133-135)gcC>gcA	p.A45A		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A45A(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGCACCATGGCATAGATTG	0.512000													6	90					8.12818e-05	9.27883e-05	1	1	0
SLC25A47	283600	broad.mit.edu	37	14	100795944	100795944	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:100795944G>A	ENST00000361529.3	+	6	967	c.889G>A	c.(889-891)Gag>Aag	p.E297K	SLC25A47_ENST00000557052.1_Missense_Mutation_p.E151K	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	297					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CGTCGCCTATGAGGCAGTGCT	0.652000													22	116					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328471	74328471	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:74328471G>T	ENST00000409262.3	+	9	4151	c.4151G>T	c.(4150-4152)gGg>gTg	p.G1384V		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1384							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCAAGTTTGGGAACAGCACC	0.657000													9	22					0.000442599	0.000489726	1	1	0
ZNF267	10308	broad.mit.edu	37	16	31895846	31895846	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:31895846G>T	ENST00000300870.10	+	2	240	c.31G>T	c.(31-33)Gta>Tta	p.V11L	ZNF267_ENST00000394846.3_Missense_Mutation_p.V11L	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	11	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GGATGTGGCCGTAGAATTCTC	0.433000													28	92					2.79863e-10	3.89644e-10	1	1	0
IQCF1	132141	broad.mit.edu	37	3	51930855	51930855	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:51930855G>A	ENST00000310914.5	-	3	226	c.164C>T	c.(163-165)tCa>tTa	p.S55L		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	55										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TACTTTTTCTGATTTCTCATT	0.488000													11	65					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70598299	70598299	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:70598299T>A	ENST00000449580.1	+	7	1196	c.1145T>A	c.(1144-1146)aTa>aAa	p.I382K	TAF1_ENST00000423759.1_Missense_Mutation_p.I403K|TAF1_ENST00000373790.4_Missense_Mutation_p.I382K|TAF1_ENST00000276072.3_Missense_Mutation_p.I403K			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	382	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCTAGAATGATAGAGGTGAGC	0.403000													6	37					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887240	25887240	+	Silent	SNP	A	A	T	rs150607246	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:25887240A>T	ENST00000376351.3	+	11	3044	c.2685A>T	c.(2683-2685)cgA>cgT	p.R895R	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	895						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGCACCCACGAACATCGATGT	0.527000													36	163					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19491708	19491708	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:19491708G>T	ENST00000328405.2	+	9	1752	c.1486G>T	c.(1486-1488)Gtc>Ttc	p.V496F	KCNH8_ENST00000537696.1_Missense_Mutation_p.V165F	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	496						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTTCATCCGTGTCCATCACTT	0.428000													37	63					5.43694e-19	8.89681e-19	1	1	0
LRP1B	53353	broad.mit.edu	37	2	140995771	140995771	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:140995771G>T	ENST00000389484.3	-	89	14481	c.13510C>A	c.(13510-13512)Cac>Aac	p.H4504N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4504					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCGTTGTGATCATGATCT	0.368000										TSP Lung(27;0.18)			16	65					1.5739e-10	2.21577e-10	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93778679	93778679	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:93778679C>T	ENST00000265990.6	+	34	5158	c.4850C>T	c.(4849-4851)tCa>tTa	p.S1617L	BTAF1_ENST00000544642.1_Missense_Mutation_p.S445L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1617					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.S1617*(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCTAAGCTCTCAGCTTTGAAA	0.353000													6	105					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102261472	102261472	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:102261472C>T	ENST00000335968.3	-	3	639	c.423G>A	c.(421-423)ctG>ctA	p.L141L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	141					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGTCTTTCTTCAGTATTTCAA	0.368000													26	64					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44604977	44604977	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:44604977G>T	ENST00000336976.6	+	4	293	c.39G>T	c.(37-39)gtG>gtT	p.V13V		NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	13	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TCAAGGACGTGGCTGTGGTCT	0.522000													20	159					2.4624e-09	3.33167e-09	1	1	0
RYR3	6263	broad.mit.edu	37	15	34123255	34123255	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:34123255C>A	ENST00000389232.4	+	86	11496	c.11426C>A	c.(11425-11427)aCc>aAc	p.T3809N	RYR3_ENST00000415757.3_Missense_Mutation_p.T3804N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3809					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGGCAGTCACCAAGCAGATT	0.373000													3	25					0.115264	0.117064	1	1	0
PQLC1	80148	broad.mit.edu	37	18	77703445	77703445	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:77703445T>A	ENST00000397778.2	-	3	403	c.221A>T	c.(220-222)gAg>gTg	p.E74V	PQLC1_ENST00000590381.1_Missense_Mutation_p.E74V|PQLC1_ENST00000357575.4_Missense_Mutation_p.E74V|PQLC1_ENST00000409073.1_5'UTR	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	74	PQ-loop 1.					integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CAGCGGGGACTCAAAGCGCCT	0.632000													23	78					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875292	27875292	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:27875292T>A	ENST00000374011.2	-	6	4303	c.3335A>T	c.(3334-3336)cAg>cTg	p.Q1112L	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.Q1112L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1112							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)		TCCATAGCCCTGCCGGAAAGG	0.622000													31	63					0	0	1	0	0
MVB12A	93343	broad.mit.edu	37	19	17533169	17533169	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:17533169G>T	ENST00000317040.7	+	4	1370	c.315G>T	c.(313-315)atG>atT	p.M105I	MVB12A_ENST00000543795.1_Missense_Mutation_p.M105I|MVB12A_ENST00000529939.1_Missense_Mutation_p.M105I|MVB12A_ENST00000528515.1_Intron|MVB12A_ENST00000392702.2_Missense_Mutation_p.M105I					multivesicular body subunit 12A																		AGAAACGCATGTGTGTGAAGC	0.587000													39	55					5.43694e-19	8.89681e-19	1	1	0
DENND2C	163259	broad.mit.edu	37	1	115168483	115168483	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:115168483C>A	ENST00000393274.1	-	4	748	c.123G>T	c.(121-123)tgG>tgT	p.W41C	DENND2C_ENST00000393277.1_Missense_Mutation_p.W41C|DENND2C_ENST00000393276.3_Missense_Mutation_p.W41C	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	41										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	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)		CCTTTGGACACCACTTTTCTG	0.388000													35	173					2.75727e-19	4.53029e-19	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43846346	43846346	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:43846346T>A	ENST00000389420.3	-	13	1912	c.1913A>T	c.(1912-1914)aAt>aTt	p.N638I	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N638I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	638	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCACCTCACATTAGAGGGAAT	0.368000													7	66					0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82627319	82627319	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:82627319C>A	ENST00000220669.5	-	4	187	c.169G>T	c.(169-171)Gat>Tat	p.D57Y	ZFAND1_ENST00000523096.1_Missense_Mutation_p.D57Y|ZFAND1_ENST00000517588.1_5'UTR|ZFAND1_ENST00000522520.1_5'UTR|ZFAND1_ENST00000521287.1_5'UTR|ZFAND1_ENST00000519523.1_Missense_Mutation_p.D57Y|ZFAND1_ENST00000521895.1_5'UTR	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	57							zinc ion binding	p.D57Y(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GTATGTTGATCTGTCTTCAGT	0.368000													6	92					0.0215528	0.022248	1	1	0
GNAO1	2775	broad.mit.edu	37	16	56370737	56370737	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:56370737G>A	ENST00000262494.7	+	6	948	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	GNAO1_ENST00000262493.6_Missense_Mutation_p.G230S	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	230					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CGCGCTCAGCGGCTATGACCA	0.632000													7	22					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100849618	100849618	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:100849618C>A	ENST00000223127.3	-	19	2559	c.2161G>T	c.(2161-2163)Ggg>Tgg	p.G721W		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	721	Fe2OG dioxygenase.				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTTGGCAGCCCCTCGTGGTAG	0.632000													9	65					0.000274275	0.000305154	1	1	0
FAM179B	23116	broad.mit.edu	37	14	45542540	45542540	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:45542540G>A	ENST00000361462.2	+	20	5281	c.5098G>A	c.(5098-5100)Gag>Aag	p.E1700K	FAM179B_ENST00000361577.3_Missense_Mutation_p.E1647K|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1647							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCATGCCACAGAGCAGAAAGT	0.388000													13	37					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176951477	176951477	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:176951477C>A	ENST00000329540.5	-	9	3712	c.883G>T	c.(883-885)Gct>Tct	p.A295S	FAM193B_ENST00000514747.1_Missense_Mutation_p.A669S|FAM193B_ENST00000443375.2_Missense_Mutation_p.A636S			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	345										kidney(1)|large_intestine(3)	4						TTGGGGCCAGCGACCTGGCCC	0.687000													4	10					0.00024832	0.000277964	1	1	0
HLA-DRB6	3128	broad.mit.edu	37	6	32522570	32522570	+	RNA	SNP	G	G	A	rs35923382	by1000genomes	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:32522570G>A	ENST00000411500.1	-	0	636					NR_001298.1																						GGGTCTGGAAGGTCCAATCTC	0.532000													6	25					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102663432	102663432	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:102663432C>T	ENST00000315274.6	-	7	1004	c.937G>A	c.(937-939)Gag>Aag	p.E313K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	313	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.E313Q(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		AAATTGAGCTCAACTTCCGGG	0.408000													15	105					0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73579246	73579246	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:73579246G>A	ENST00000394936.3	-	11	1473	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	PSAP_ENST00000394934.1_Silent_p.F444F			P07602	SAP_HUMAN	prosaposin	442	Saposin B-type 4.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GGTCTGGCAGGAAGCTGCAGC	0.562000													12	66					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67315483	67315483	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:67315483G>T	ENST00000360461.5	+	5	3362	c.827G>T	c.(826-828)gGg>gTg	p.G276V	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.G276V|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.G276V|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.G195V	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	276					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCAGCCCCAGGGGCCGTGTAC	0.602000													10	22					4.68919e-08	6.11871e-08	1	1	0
PCSK9	255738	broad.mit.edu	37	1	55521812	55521812	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:55521812G>T	ENST00000302118.5	+	6	1236	c.946G>T	c.(946-948)Ggc>Tgc	p.G316C	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.G116C	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	316	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CACCGCTGCCGGCAACTTCCG	0.731000													6	3					8.12818e-05	9.27883e-05	1	1	0
OR2L3	391192	broad.mit.edu	37	1	248224544	248224544	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:248224544C>A	ENST00000359959.3	+	1	561	c.561C>A	c.(559-561)gcC>gcA	p.A187A	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGACTCTGGCCTGCATGGACA	0.473000													14	252					1.99505e-19	3.28866e-19	1	1	0
TRAV13-1	28671	broad.mit.edu	37	14	22337431	22337431	+	RNA	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:22337431C>G	ENST00000390436.2	+	0	245																											CAAATGTGGGCGAAAAGAAAG	0.428000													48	145					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31406157	31406157	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:31406157G>A	ENST00000373747.3	-	22	3570	c.3471C>T	c.(3469-3471)taC>taT	p.Y1157Y	PUM1_ENST00000440538.2_Silent_p.Y1130Y|PUM1_ENST00000257075.5_Silent_p.Y1154Y|PUM1_ENST00000426105.2_Silent_p.Y1156Y|PUM1_ENST00000424085.2_Silent_p.Y912Y|PUM1_ENST00000423018.2_Silent_p.Y1012Y|PUM1_ENST00000373741.4_Silent_p.Y1192Y|PUM1_ENST00000373742.2_Silent_p.Y1095Y	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1154	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCATAGGTGTACTTACGAA	0.537000													28	133					0	0	1	0	0
MRGPRF	116535	broad.mit.edu	37	11	68773090	68773090	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:68773090G>T	ENST00000309099.6	-	3	1070	c.688C>A	c.(688-690)Cgg>Agg	p.R230R	MRGPRF_ENST00000441623.1_Silent_p.R230R	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	230						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGCTGGCGCCGTCGGGCCCGG	0.627000													4	3					0.00024832	0.000277964	1	1	0
ITGAD	3681	broad.mit.edu	37	16	31424184	31424184	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:31424184C>A	ENST00000389202.2	+	15	1782	c.1733C>A	c.(1732-1734)cCc>cAc	p.P578H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	578					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGCTCTCCCCCAGGCTGCAG	0.597000													19	96					6.33239e-15	9.70805e-15	1	1	0
KCNJ3	3760	broad.mit.edu	37	2	155711265	155711265	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:155711265T>A	ENST00000295101.2	+	3	1423	c.946T>A	c.(946-948)Tat>Aat	p.Y316N	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	316					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCGAACATCATATACTGAAGA	0.363000													9	67					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67681432	67681432	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:67681432C>A	ENST00000334583.6	+	11	1126	c.798C>A	c.(796-798)gcC>gcA	p.A266A	RLTPR_ENST00000545661.1_Silent_p.A266A	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	266										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GACGACTGGCCCAGGCGCTGG	0.667000													4	11					0.00024832	0.000277964	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681661	55681661	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:55681661G>A	ENST00000344514.1	-	1	397	c.398C>T	c.(397-399)aCa>aTa	p.T133I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATGTTGACTGTATAGAGCAG	0.463000													8	73					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237604647	237604647	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:237604647A>T	ENST00000366574.2	+	13	1351	c.1034A>T	c.(1033-1035)gAa>gTa	p.E345V	RYR2_ENST00000542537.1_Missense_Mutation_p.E329V|RYR2_ENST00000360064.6_Missense_Mutation_p.E343V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	345					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)			GTGAGAAAAGAAGTAGATGGC	0.393000													29	59					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131190899	131190899	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:131190899C>A	ENST00000337057.3	-	15	2592	c.2411G>T	c.(2410-2412)gGt>gTt	p.G804V	EPB41L2_ENST00000368128.2_Missense_Mutation_p.G804V|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G734V|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G734V|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.G182V	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	804					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TACACTGGCACCTGCTTGTGT	0.537000													45	173					1.8453e-21	3.1001e-21	1	1	0
FGF14	2259	broad.mit.edu	37	13	103053849	103053849	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:103053849C>A	ENST00000376131.4	-	1	275	c.180G>T	c.(178-180)aaG>aaT	p.K60N	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTTAAGACTCTTGCCACAAA	0.423000													17	141					7.07596e-05	8.13292e-05	1	1	0
GUCY2F	2986	broad.mit.edu	37	X	108619336	108619336	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:108619336G>T	ENST00000218006.2	-	18	3502	c.3211C>A	c.(3211-3213)Cct>Act	p.P1071T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1071					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGGGGCACAGGAAGGGGCTTC	0.428000													17	124					1.15088e-07	1.47781e-07	1	1	0
PAPSS2	9060	broad.mit.edu	37	10	89501120	89501120	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:89501120G>A	ENST00000361175.4	+	9	1569	c.1200G>A	c.(1198-1200)atG>atA	p.M400I	PAPSS2_ENST00000456849.1_Missense_Mutation_p.M405I|PAPSS2_ENST00000427144.2_Missense_Mutation_p.M404I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	400					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GTAAAGAAATGAATGCTGGTA	0.423000													6	74					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115351343	115351343	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:115351343C>A	ENST00000357872.4	+	18	2761	c.2637C>A	c.(2635-2637)atC>atA	p.I879I	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		879					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AGTATGCCATCAGCACATCTC	0.323000													10	32					7.48243e-07	9.29426e-07	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91132951	91132951	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:91132951C>A	ENST00000373094.1	+	2	2557	c.1712C>A	c.(1711-1713)aCt>aAt	p.T571N	PCDH11X_ENST00000373097.1_Missense_Mutation_p.T571N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T571N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T571N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T571N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T571N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T571N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T571N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T571N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	571	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCAGTTTTCACTCACAATGAA	0.403000													25	36					2.79863e-10	3.89644e-10	1	1	0
FOLR4	390243	broad.mit.edu	37	11	94038896	94038896	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:94038896C>A	ENST00000440961.2	+	1	138	c.94C>A	c.(94-96)Cac>Aac	p.H32N		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	32						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GAATGCCAAACACCACAAGAG	0.582000													21	59					4.96729e-08	6.46903e-08	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62775326	62775326	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:62775326C>A	ENST00000512091.1	+	11	2479	c.1732C>A	c.(1732-1734)Cag>Aag	p.Q578K	LPHN3_ENST00000511324.1_Missense_Mutation_p.Q646K|LPHN3_ENST00000545650.1_Missense_Mutation_p.Q578K|LPHN3_ENST00000504896.1_Missense_Mutation_p.Q578K|LPHN3_ENST00000509896.1_Missense_Mutation_p.Q646K|LPHN3_ENST00000507164.1_Missense_Mutation_p.Q646K|LPHN3_ENST00000514591.1_Missense_Mutation_p.Q578K|LPHN3_ENST00000508946.1_Missense_Mutation_p.Q578K|LPHN3_ENST00000514996.1_Missense_Mutation_p.Q578K|LPHN3_ENST00000514157.1_Missense_Mutation_p.Q578K|LPHN3_ENST00000507625.1_Missense_Mutation_p.Q646K|LPHN3_ENST00000508693.1_Missense_Mutation_p.Q646K|LPHN3_ENST00000506746.1_Missense_Mutation_p.Q646K|LPHN3_ENST00000506700.1_Missense_Mutation_p.Q578K|LPHN3_ENST00000506720.1_Missense_Mutation_p.Q646K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	578					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTGGCTGAACAGACAAGAAA	0.443000													6	14					2.0095e-06	2.4627e-06	1	1	0
BCL2L11	10018	broad.mit.edu	37	2	111907683	111907683	+	Silent	SNP	C	C	A	rs146318804		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:111907683C>A	ENST00000393256.3	+	3	730	c.457C>A	c.(457-459)Cgg>Agg	p.R153R	BCL2L11_ENST00000357757.2_Silent_p.R153R|BCL2L11_ENST00000393253.2_Silent_p.R63R|BCL2L11_ENST00000308659.8_Silent_p.R93R	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	153					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding	p.R153W(1)		endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CCAAGAGTTGCGGCGTATTGG	0.463000													6	29					0.217242	0.218543	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46774957	46774957	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:46774957G>A	ENST00000529230.1	-	37	5006	c.4960C>T	c.(4960-4962)Cgg>Tgg	p.R1654W	CKAP5_ENST00000354558.3_Missense_Mutation_p.R1594W|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1654W|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1594W			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1654					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTTCAATCCGAGAATCCAGC	0.502000													20	89					0	0	1	0	0
ZWILCH	55055	broad.mit.edu	37	15	66797704	66797704	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:66797704G>C	ENST00000307897.5	+	1	408	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	ZWILCH_ENST00000446801.2_5'UTR|ZWILCH_ENST00000535141.2_5'UTR|RPL4_ENST00000568588.1_5'UTR|RPL4_ENST00000564517.1_5'UTR|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000565627.1_5'UTR	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	10					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						CTGCGCAGCAGAGGACTTTTA	0.602000													6	97					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114288814	114288814	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:114288814C>A	ENST00000357077.4	+	42	11178	c.11125C>A	c.(11125-11127)Cct>Act	p.P3709T	ANK2_ENST00000264366.6_Missense_Mutation_p.P3676T|ANK2_ENST00000510275.2_Missense_Mutation_p.P276T|ANK2_ENST00000506722.1_Missense_Mutation_p.P1615T|ANK2_ENST00000509550.1_Missense_Mutation_p.P800T|ANK2_ENST00000394537.3_Missense_Mutation_p.P1624T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3676					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)		CTGCGATCACCCTCCTATCGT	0.493000													7	69					2.0095e-06	2.4627e-06	1	1	0
IGHV1-8	28472	broad.mit.edu	37	14	106539345	106539345	+	RNA	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:106539345C>G	ENST00000390599.2	-	0	146																											TTCTTCACCTCAGCCCCAGAC	0.547000													8	131					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179426584	179426584	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:179426584A>T	ENST00000263966.3	+	6	1115	c.644A>T	c.(643-645)gAc>gTc	p.D215V	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.D150V	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	215					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GCCAGATGCGACCTGCGAGAA	0.498000													34	94					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9242575	9242575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:9242575C>A	ENST00000318602.7	-	21	2948	c.2641G>T	c.(2641-2643)Gag>Tag	p.E881*		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	881					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCACACAGCTCTTGAGACTCT	0.443000													52	76					6.4308e-24	1.09776e-23	1	1	0
ASTN1	460	broad.mit.edu	37	1	176863701	176863701	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:176863701C>G	ENST00000367654.2	-	17	2974	c.2961G>C	c.(2959-2961)caG>caC	p.Q987H	ASTN1_ENST00000424564.2_Missense_Mutation_p.Q979H|ASTN1_ENST00000361833.2_Missense_Mutation_p.Q979H|ASTN1_ENST00000367657.3_Missense_Mutation_p.Q979H			O14525	ASTN1_HUMAN	astrotactin 1	987					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCTTACCCTCTGGGTCTGGT	0.567000													7	59					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124437805	124437805	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:124437805G>T	ENST00000360013.3	+	60	8576	c.8449G>T	c.(8449-8451)Gtg>Ttg	p.V2817L	KALRN_ENST00000428018.2_Missense_Mutation_p.V1088L|KALRN_ENST00000291478.4_Missense_Mutation_p.V1120L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2816	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACGGATTCCAGTGCCTCGAGT	0.507000													27	50					2.79863e-10	3.89644e-10	1	1	0
SORCS3	22986	broad.mit.edu	37	10	106849540	106849540	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:106849540G>T	ENST00000369701.3	+	6	1263	c.1036G>T	c.(1036-1038)Gcc>Tcc	p.A346S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	346						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGGTCGGTGGCCGGATTGGA	0.572000													9	33					7.48243e-07	9.29426e-07	1	1	0
SSTR3	6753	broad.mit.edu	37	22	37602995	37602995	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:37602995C>A	ENST00000328544.3	-	2	1381	c.848G>T	c.(847-849)tGc>tTc	p.C283F	SSTR3_ENST00000402501.1_Missense_Mutation_p.C283F	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	283					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GGGCAGTGGGCACACCACGTT	0.622000													13	79					0.0202918	0.0210109	1	1	0
MUC6	4588	broad.mit.edu	37	11	1015908	1015908	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:1015908G>C	ENST00000421673.2	-	31	6943	c.6893C>G	c.(6892-6894)tCt>tGt	p.S2298C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2298	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGACTGGAGAGGTGGGGAT	0.617000													4	56					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99446954	99446954	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:99446954C>A	ENST00000547776.2	-	17	2758	c.2759G>T	c.(2758-2760)tGg>tTg	p.W920L	ANKS1B_ENST00000546960.1_Missense_Mutation_p.W146L|ANKS1B_ENST00000550693.2_Missense_Mutation_p.W146L|ANKS1B_ENST00000329257.7_Missense_Mutation_p.W920L|ANKS1B_ENST00000547010.1_Missense_Mutation_p.W496L|ANKS1B_ENST00000546568.1_Missense_Mutation_p.W146L|ANKS1B_ENST00000549558.2_Missense_Mutation_p.W146L|ANKS1B_ENST00000549025.2_Missense_Mutation_p.W89L|ANKS1B_ENST00000549493.2_Missense_Mutation_p.W146L|ANKS1B_ENST00000547446.1_Missense_Mutation_p.W115L|ANKS1B_ENST00000332712.7_Missense_Mutation_p.W146L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	920	SAM 2.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTCAACCTCCCAGATTTTTTT	0.368000													3	14					0.115264	0.117064	1	1	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406071	39406071	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:39406071C>T	ENST00000334109.2	+	1	133	c.99C>T	c.(97-99)agC>agT	p.S33S		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	33	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACCTGCAGCAGCACACCCT	0.627000													9	113					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170072850	170072850	+	Silent	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:170072850G>C	ENST00000263816.3	-	35	6024	c.5739C>G	c.(5737-5739)ctC>ctG	p.L1913L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1913					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCCAGTAAAGAGAGTTTTCA	0.507000													5	78					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101540717	101540717	+	Silent	SNP	G	G	T	rs139546142		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:101540717G>T	ENST00000422132.1	+	5	1796	c.1599G>T	c.(1597-1599)ccG>ccT	p.P533P	NXPE3_ENST00000477909.1_Silent_p.P533P|NXPE3_ENST00000273347.5_Silent_p.P533P|NXPE3_ENST00000491511.1_Silent_p.P533P					neurexophilin and PC-esterase domain family, member 3																		ATTATCTACCGCACAAGCTGC	0.512000													39	74					1.36161e-19	2.24817e-19	1	1	0
GTF2IRD1	9569	broad.mit.edu	37	7	73954274	73954274	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:73954274G>T	ENST00000476977.1	+	14	3285	c.1594G>T	c.(1594-1596)Ggt>Tgt	p.G532C	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.G532C|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.G532C|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.G564C			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	532						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAGGATTCTGGTTATGGGAT	0.567000													14	43					0.000308642	0.000343011	1	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458437	45458437	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:45458437G>T	ENST00000548424.1	+	0	448																											TCTCAATAGTGGGCACAGCTT	0.522000													5	39					0.184627	0.186104	1	1	0
KCNQ2	3785	broad.mit.edu	37	20	62038384	62038384	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:62038384C>A	ENST00000354587.3	-	17	2432	c.2256G>T	c.(2254-2256)ccG>ccT	p.P752P	KCNQ2_ENST00000359689.1_Silent_p.P744P|KCNQ2_ENST00000370226.1_Silent_p.P714P|KCNQ2_ENST00000357249.2_Silent_p.P726P|KCNQ2_ENST00000344462.3_Silent_p.P740P|KCNQ2_ENST00000360480.3_Silent_p.P716P|KCNQ2_ENST00000370224.1_Silent_p.P752P|KCNQ2_ENST00000430658.1_Silent_p.P713P|KCNQ2_ENST00000359125.2_Silent_p.P744P			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	744					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGGCAGGCGGCGGCGGGATGC	0.766000													3	3					0.00024832	0.000277964	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91732067	91732067	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:91732067G>C	ENST00000359028.2	+	46	11494	c.11269G>C	c.(11269-11271)Gag>Cag	p.E3757Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E3703Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E3753Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3757					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CACGGATCTAGAGGTGATCAC	0.527000			T	BRAF	papillary thyroid								24	151					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120279817	120279817	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:120279817T>A	ENST00000369407.3	+	7	2278	c.771T>A	c.(769-771)gcT>gcA	p.A257A	PHGDH_ENST00000369409.4_Silent_p.A291A			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	291					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCAAGGAGGCTCAGAGCCGCT	0.602000													8	47					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951360	119951360	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:119951360G>T	ENST00000307142.4	+	4	1626	c.1430G>T	c.(1429-1431)aGa>aTa	p.R477I	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R477I|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R477I	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	477						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.R477T(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAACTGAACAGAGGGGACAAG	0.473000													9	21					0.000442599	0.000489726	1	1	0
DPYSL3	1809	broad.mit.edu	37	5	146778740	146778740	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:146778740G>A	ENST00000343218.5	-	11	1725	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	DPYSL3_ENST00000534907.1_Missense_Mutation_p.P22S|DPYSL3_ENST00000398514.3_Missense_Mutation_p.P396S	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	396					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)			CCCTTGCGGGGATACAGGTTG	0.473000													9	118					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140442061	140442061	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:140442061C>A	ENST00000406427.1	-	2	417	c.81G>T	c.(79-81)acG>acT	p.T27T	PNPLA7_ENST00000277531.4_Intron	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	10					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AACCTTCCTCCGTGAACCACA	0.632000													25	45					1.66031e-10	2.3309e-10	1	1	0
KLRB1	3820	broad.mit.edu	37	12	9754098	9754098	+	Splice_Site	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:9754098T>A	ENST00000229402.3	-	2	229	c.184_splice	c.e2+1	p.S61_splice		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	61					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						CCCACTTACCTGAAACACTCA	0.463000													18	25					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47589724	47589724	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:47589724T>A	ENST00000253048.5	-	6	824	c.787A>T	c.(787-789)Agg>Tgg	p.R263W	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	263	Gly-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGGCTGCCCCTGCCCATGCCG	0.652000													36	40					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153785903	153785903	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:153785903C>A	ENST00000368655.4	-	8	1485	c.1242G>T	c.(1240-1242)cgG>cgT	p.R414R		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	414	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGGTTCAACCCGCAGAAGTG	0.428000													13	79					0.00136819	0.00148056	1	1	0
SVIL	6840	broad.mit.edu	37	10	29769596	29769596	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:29769596G>A	ENST00000375398.2	-	31	5696	c.5247C>T	c.(5245-5247)atC>atT	p.I1749I	SVIL_ENST00000355867.4_Silent_p.I1749I|SVIL_ENST00000538146.1_Silent_p.I541I|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Silent_p.I663I|SVIL_ENST00000375400.3_Silent_p.I1323I|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000423223.1_RNA			O95425	SVIL_HUMAN	supervillin	1749					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAACGCTGGTGATCTCAAACT	0.582000													10	164					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34256133	34256133	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:34256133C>T	ENST00000379166.2	-	11	3591	c.3472G>A	c.(3472-3474)Gag>Aag	p.E1158K	KIF24_ENST00000345050.2_Missense_Mutation_p.E1024K|KIF24_ENST00000379174.3_Missense_Mutation_p.E1024K|KIF24_ENST00000402558.2_Missense_Mutation_p.E1158K	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1158					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGTACAGTCTCTCTGCTCTGG	0.587000													16	42					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083055	152083055	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:152083055C>T	ENST00000368804.1	-	2	2637	c.2638G>A	c.(2638-2640)Gaa>Aaa	p.E880K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	880					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTTTCTTCTTCTAGTTGC	0.612000													10	229					0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39544409	39544409	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:39544409C>A	ENST00000379631.4	-	5	773	c.429G>T	c.(427-429)ctG>ctT	p.L143L	STOML3_ENST00000423210.1_Silent_p.L134L	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	143						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TGGTTTGAGCCAGCAGAAATG	0.463000													18	104					5.35267e-07	6.70247e-07	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20432579	20432579	+	Splice_Site	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:20432579G>A	ENST00000331849.4	+	5	770		c.e5-1			NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACGTTTTACAGGGAGGCTTCT	0.473000													19	49					0	0	1	0	0
DEPDC7	91614	broad.mit.edu	37	11	33049339	33049339	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:33049339C>T	ENST00000311388.3	+	3	921	c.545C>T	c.(544-546)tCt>tTt	p.S182F	DEPDC7_ENST00000241051.3_Missense_Mutation_p.S191F	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	191					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						gtaaatatCTCTGCAACCTTG	0.353000													8	22					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155735564	155735564	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:155735564C>T	ENST00000437809.1	-	21	3822	c.3700G>A	c.(3700-3702)Gct>Act	p.A1234T	GON4L_ENST00000368331.1_Missense_Mutation_p.A1234T|GON4L_ENST00000271883.5_Missense_Mutation_p.A1234T|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.A1234T			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1234					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCAGCCACAGCACAAGCAATG	0.483000													20	122					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13947982	13947982	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:13947982C>G	ENST00000382080.1	-	8	1624	c.909G>C	c.(907-909)caG>caC	p.Q303H	SGCZ_ENST00000421524.2_Missense_Mutation_p.Q256H	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	290					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGCTACTGGACTGACAAGTGG	0.507000													7	102					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104149	53104149	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:53104149C>T	ENST00000408890.4	+	1	801	c.785C>T	c.(784-786)tCc>tTc	p.S262F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	262										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCGCCCCATCCGCCATCTGG	0.657000													18	74					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72935284	72935284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:72935284C>A	ENST00000262209.4	-	27	3424	c.3217G>T	c.(3217-3219)Gag>Tag	p.E1073*	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1073						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAGATGATCTCCATCTTCTGA	0.368000													17	49					1.5739e-10	2.21577e-10	1	1	0
ART4	420	broad.mit.edu	37	12	14993577	14993577	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:14993577C>G	ENST00000228936.4	-	2	1036	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	219					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TTCCCAAACTCCTGTGCCTCT	0.493000													8	81					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758678	5758678	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:5758678T>A	ENST00000317121.3	+	1	998	c.932T>A	c.(931-933)tTc>tAc	p.F311Y	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AGGGCAGCCTTCCAAAAGGTG	0.413000													18	192					0	0	1	0	0
UQCC1	55245	broad.mit.edu	37	20	33969786	33969786	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:33969786C>A	ENST00000397554.1	-	4	278	c.268G>T	c.(268-270)Gtt>Ttt	p.V90F	UQCC_ENST00000359226.2_Missense_Mutation_p.V90F|UQCC_ENST00000349714.5_Missense_Mutation_p.V90F|UQCC_ENST00000542501.1_Missense_Mutation_p.V90F|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000407996.2_Intron|UQCC_ENST00000397556.3_5'UTR|UQCC_ENST00000374385.5_Missense_Mutation_p.V90F|UQCC_ENST00000374377.5_Intron|UQCC_ENST00000374380.2_Intron|UQCC_ENST00000374384.2_Missense_Mutation_p.V90F			Q9NVA1	UQCC_HUMAN		90						cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AAAGCACCAACCTTCTCCTCA	0.343000													62	116					8.77104e-35	1.5336e-34	1	1	0
GLRA2	2742	broad.mit.edu	37	X	14592454	14592454	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:14592454G>T	ENST00000218075.4	+	3	732		c.e3-1		GLRA2_ENST00000355020.4_Intron|GLRA2_ENST00000443437.2_Intron	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2						neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GCATTCTGCAGGTCCTCCAGT	0.373000													14	23					2.32078e-09	3.14852e-09	1	1	0
OR1L6	392390	broad.mit.edu	37	9	125512887	125512887	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:125512887G>T	ENST00000373684.1	+	1	869	c.869G>T	c.(868-870)gGg>gTg	p.G290V	OR1L6_ENST00000304720.2_Missense_Mutation_p.G254V			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CTTTTCTATGGGAGTATTATT	0.512000													9	71					7.48243e-07	9.29426e-07	1	1	0
LOC644669	644669	broad.mit.edu	37	18	15316741	15316741	+	RNA	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:15316741C>T	ENST00000455308.2	-	0	682					NR_027417.1																						GCAGCCTCATCAAGTGTTCCT	0.423000													3	17					0	0	1	0	0
GNPAT	8443	broad.mit.edu	37	1	231401504	231401504	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:231401504G>C	ENST00000366647.4	+	6	912	c.743G>C	c.(742-744)cGc>cCc	p.R248P	GNPAT_ENST00000366646.3_Missense_Mutation_p.R187P	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	248					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				ACAAGAAGCCGCTCTGCCAAG	0.378000													13	30					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975809	20975809	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:20975809C>G	ENST00000261383.3	-	53	9396	c.9397G>C	c.(9397-9399)Gag>Cag	p.E3133Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3133	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCATCCAGCTCTTCTCCAATG	0.443000													14	225					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34037155	34037155	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:34037155C>A	ENST00000373381.4	-	51	8110	c.7934G>T	c.(7933-7935)gGg>gTg	p.G2645V		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2647	Sushi 16.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGTAGAGTCCCCGAGGCTCCA	0.567000													13	47					2.27111e-07	2.87417e-07	1	1	0
HAS2	3037	broad.mit.edu	37	8	122629386	122629386	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:122629386C>G	ENST00000303924.4	-	3	1225	c.688G>C	c.(688-690)Gaa>Caa	p.E230Q		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	230						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GGATCTTCTTCTAAAACTTTT	0.388000													9	45					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170810	113170810	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:113170810C>A	ENST00000401783.2	-	38	7406	c.7070G>T	c.(7069-7071)gGc>gTc	p.G2357V	SVEP1_ENST00000297826.5_Missense_Mutation_p.G283V|SVEP1_ENST00000374469.1_Missense_Mutation_p.G2334V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2357	Sushi 16.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GACAGAGGGGCCTTGCAGGAC	0.488000													7	36					0.00198382	0.00212846	1	1	0
CPB1	1360	broad.mit.edu	37	3	148558710	148558710	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:148558710C>A	ENST00000491148.1	+	6	756	c.422C>A	c.(421-423)tCt>tAt	p.S141Y	CPB1_ENST00000282957.4_Missense_Mutation_p.S141Y			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	141					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCCCTCATCTCTCGCAGTGTT	0.443000													43	69					2.24893e-16	3.53379e-16	1	1	0
EMR1	2015	broad.mit.edu	37	19	6928186	6928186	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:6928186C>G	ENST00000312053.4	+	17	2290	c.2253C>G	c.(2251-2253)atC>atG	p.I751M	EMR1_ENST00000381407.5_Missense_Mutation_p.I610M|EMR1_ENST00000250572.8_Missense_Mutation_p.I686M|EMR1_ENST00000450315.3_Missense_Mutation_p.I574M|EMR1_ENST00000381404.4_Missense_Mutation_p.I699M	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	751					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAGGGTTCATCTGGAGTTTCT	0.507000													8	121					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90055329	90055329	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:90055329G>C	ENST00000405460.2	+	58	12140	c.12044G>C	c.(12043-12045)gGt>gCt	p.G4015A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4015					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGCAGACTTGGTGATGATGTT	0.363000													4	20					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149884826	149884826	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:149884826C>A	ENST00000369146.3	-	2	1057	c.567G>T	c.(565-567)gtG>gtT	p.V189V	SV2A_ENST00000369145.1_Silent_p.V189V	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	189					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CGCTGGGCAGCACGAAGCCCA	0.572000													43	124					1.59361e-14	2.43387e-14	1	1	0
ZNF98	148198	broad.mit.edu	37	19	22575664	22575664	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:22575664A>G	ENST00000357774.5	-	4	494	c.373T>C	c.(373-375)Tac>Cac	p.Y125H		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CTTTTACAGTATTTTCTTAAC	0.333000													7	23					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125853846	125853846	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:125853846C>A	ENST00000392693.3	-	16	3043	c.2916G>T	c.(2914-2916)gtG>gtT	p.V972V	CDON_ENST00000531738.1_Silent_p.V349V|CDON_ENST00000263577.7_Silent_p.V972V	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	972					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGACGCCCAGCACACAGCCAA	0.473000													22	38					6.44725e-10	8.88425e-10	1	1	0
CPS1	1373	broad.mit.edu	37	2	211541815	211541815	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:211541815G>T	ENST00000233072.5	+	37	4555	c.4359G>T	c.(4357-4359)cgG>cgT	p.R1453R	CPS1_ENST00000451903.2_Silent_p.R1002R|CPS1_ENST00000430249.2_Silent_p.R1459R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1453			R -> Q (in CPS1D; the enzyme is inactive).|R -> W (in CPS1D; the enzyme is inactive).		carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATGTGATTCGGAGGACAGCTG	0.388000													31	103					1.75199e-13	2.62798e-13	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139164562	139164562	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:139164562C>T	ENST00000395297.1	-	13	2326	c.2156G>A	c.(2155-2157)cGa>cAa	p.R719Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	719										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCATGTCTTCGAACAAACGG	0.567000										HNSCC(54;0.14)			5	63					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1413304	1413304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:1413304C>T	ENST00000381524.3	+	8	916	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	CSF2RA_ENST00000501036.2_Nonsense_Mutation_p.Q111*|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Nonsense_Mutation_p.Q244*|CSF2RA_ENST00000355432.3_Nonsense_Mutation_p.Q244*|CSF2RA_ENST00000381500.1_Nonsense_Mutation_p.Q244*|CSF2RA_ENST00000432318.2_Nonsense_Mutation_p.Q244*|CSF2RA_ENST00000361536.3_Nonsense_Mutation_p.Q244*|CSF2RA_ENST00000417535.2_Nonsense_Mutation_p.Q244*|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381509.3_Nonsense_Mutation_p.Q244*			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	244						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAGGACCTATCAGAAGCTGTC	0.602000													76	120					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390614	158390614	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:158390614G>T	ENST00000314902.2	-	1	42	c.43C>A	c.(43-45)Ctc>Atc	p.L15I		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GAGAAGCCGAGGAAGATGACC	0.507000													23	73					3.8784e-16	6.05175e-16	1	1	0
ME2	4200	broad.mit.edu	37	18	48450486	48450486	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:48450486G>C	ENST00000321341.5	+	11	1347	c.1075G>C	c.(1075-1077)Gat>Cat	p.D359H	ME2_ENST00000382927.3_Missense_Mutation_p.D359H	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	359					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	AGCAAAAATAGATAGTTATCA	0.323000													10	67					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81688775	81688775	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:81688775G>T	ENST00000550584.2	-	23	3059	c.2764C>A	c.(2764-2766)Cga>Aga	p.R922R	PPFIA2_ENST00000541570.2_Silent_p.R489R|PPFIA2_ENST00000548586.1_Silent_p.R922R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Silent_p.R139R|PPFIA2_ENST00000549325.1_Silent_p.R907R|PPFIA2_ENST00000552948.1_Silent_p.R922R|PPFIA2_ENST00000333447.7_Silent_p.R907R|PPFIA2_ENST00000407050.4_Silent_p.R848R|PPFIA2_ENST00000443686.3_Silent_p.R823R|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Silent_p.R922R|PPFIA2_ENST00000550359.2_Silent_p.R769R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	848										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACGTTGGCTCGGCAGGCTGCC	0.423000													3	23					0.00024832	0.000277964	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43858416	43858416	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:43858416C>G	ENST00000389420.3	-	10	1486	c.1487G>C	c.(1486-1488)gGg>gCg	p.G496A	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G496A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	496	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATTTGTGACCCAGGACCAAA	0.348000													11	143					0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437938	44437938	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:44437938C>G	ENST00000255108.3	+	5	1449	c.1277C>G	c.(1276-1278)tCa>tGa	p.S426*	DPH2_ENST00000412950.2_Nonsense_Mutation_p.S291*|DPH2_ENST00000396758.2_Nonsense_Mutation_p.S198*	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	426					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGGAAGTCATCAAATGATCAT	0.577000													9	71					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10169670	10169670	+	RNA	SNP	A	A	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:10169670A>C	ENST00000495140.1	+	0	2070																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						AATCAACCTCAGTCATGGAGT	0.532000													16	85					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93967191	93967191	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:93967191C>A	ENST00000369303.4	-	12	2345	c.2161G>T	c.(2161-2163)Gca>Tca	p.A721S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	721	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTGAGAAATGCATCTAGGGCT	0.338000													9	20					0.000442599	0.000489726	1	1	0
SENP6	26054	broad.mit.edu	37	6	76425176	76425176	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:76425176G>A	ENST00000370014.3	+	24	3824	c.3205G>A	c.(3205-3207)Gaa>Aaa	p.E1069K	SENP6_ENST00000370010.2_Missense_Mutation_p.E1062K|SENP6_ENST00000447266.2_Missense_Mutation_p.E1069K|SENP6_ENST00000541192.1_3'UTR	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1069	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AACAAAAAGAGAAGAAATCCG	0.368000													6	64					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202698303	202698303	+	Splice_Site	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:202698303T>A	ENST00000367265.3	-	27	5662		c.e27-2		KDM5B_ENST00000367264.2_Splice_Site	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B						negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCAGTCCACCTGGTTACAAAG	0.488000													13	41					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777749	123777749	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:123777749G>T	ENST00000321355.2	+	1	641	c.611G>T	c.(610-612)gGa>gTa	p.G204V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	204					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)		GTCATTGGTGGATTTAACATG	0.393000													50	180					8.04919e-23	1.36938e-22	1	1	0
CHRM5	1133	broad.mit.edu	37	15	34355842	34355842	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:34355842C>A	ENST00000383263.5	+	3	1594	c.924C>A	c.(922-924)tcC>tcA	p.S308S	CHRM5_ENST00000557872.1_Silent_p.S308S	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	308					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GCTACCCTTCCTCAGAGGATG	0.582000													11	79					0.000673444	0.000740274	1	1	0
ZNF646	9726	broad.mit.edu	37	16	31090371	31090371	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:31090371T>C	ENST00000394979.2	+	1	3149	c.2726T>C	c.(2725-2727)aTg>aCg	p.M909T	ZNF646_ENST00000300850.5_Missense_Mutation_p.M909T			O15015	ZN646_HUMAN	zinc finger protein 646	909					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCCTCTGGCATGACTGAGGGC	0.637000													7	69					0	0	1	0	0
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013883	33013883	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:33013883C>A	ENST00000567619.1	-	0	499																											TACACCTTCACCTACTGCTAC	0.527000													20	76					1.28384e-07	1.6454e-07	1	1	0
SLC27A5	10998	broad.mit.edu	37	19	59022778	59022778	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:59022778G>A	ENST00000263093.2	-	1	654	c.545C>T	c.(544-546)tCc>tTc	p.S182F	SLC27A5_ENST00000601355.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	182					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AACGGCCTGGGAAGCCAGCAC	0.701000													6	14					0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3487301	3487301	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:3487301G>C	ENST00000301744.4	-	4	633	c.398C>G	c.(397-399)tCt>tGt	p.S133C	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TAAATATTCAGAGAGTTCTAC	0.408000													9	184					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966351	41966351	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:41966351G>A	ENST00000298919.7	+	10	1378	c.990G>A	c.(988-990)caG>caA	p.Q330Q	PDZRN4_ENST00000539469.2_Silent_p.Q332Q|PDZRN4_ENST00000402685.2_Silent_p.Q590Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	590							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ACCTGGGGCAGAGCCAAGACA	0.493000													49	47					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129361676	129361676	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:129361676C>T	ENST00000370978.4	-	11	1381	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TATGGCATTTCACCAGGTTTA	0.313000													11	28					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073207	9073207	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:9073207A>T	ENST00000397910.4	-	3	14442	c.14239T>A	c.(14239-14241)Tct>Act	p.S4747T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4749	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGCTTGAGAAGAGGGAGAG	0.483000													39	97					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688841	109688841	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:109688841G>T	ENST00000277225.5	+	3	2937	c.2648G>T	c.(2647-2649)aGt>aTt	p.S883I	ZNF462_ENST00000457913.1_Missense_Mutation_p.S883I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	883					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AATGATCACAGTGCAGTGTAC	0.468000													43	106					6.2361e-21	1.04418e-20	1	1	0
FGF10	2255	broad.mit.edu	37	5	44388738	44388738	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:44388738A>T	ENST00000264664.4	-	1	161	c.47T>A	c.(46-48)cTg>cAg	p.L16Q		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	16					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					GCAGCCGGGCAGGTGGGGAAA	0.527000													51	35					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75471617	75471617	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:75471617G>T	ENST00000427180.1	+	1	293	c.17G>T	c.(16-18)tGg>tTg	p.W6L	SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000329047.8_Intron	NM_001113495.1	NP_001106967.1	Q9UHD8	SEPT9_HUMAN	septin 9	0					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TCAAGTTTCTGGGAAGGCCTG	0.617000													9	30					0.000274275	0.000305154	1	1	0
BBS7	55212	broad.mit.edu	37	4	122749568	122749568	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:122749568C>T	ENST00000264499.4	-	17	2062	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	BBS7_ENST00000506636.1_Missense_Mutation_p.D627N	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	627					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTAAAGCATCAATTAACTGC	0.338000									Bardet-Biedl syndrome				6	78					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82818060	82818060	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:82818060C>T	ENST00000265077.3	+	7	4500	c.3935C>T	c.(3934-3936)cCc>cTc	p.P1312L	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P1264L|VCAN_ENST00000342785.4_Missense_Mutation_p.P1312L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1312	GAG-alpha (glucosaminoglycan attachment domain).				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)		ACGCCACAGCCCCCAGCAAGC	0.448000													15	62					0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123214304	123214304	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:123214304A>T	ENST00000432564.1	-	1	825	c.583T>A	c.(583-585)Tgc>Agc	p.C195S	HCAR1_ENST00000356987.2_Missense_Mutation_p.C195S|HCAR1_ENST00000436083.2_Missense_Mutation_p.C195S	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	195					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						TTGAAGGAGCAAAATAAGATG	0.547000													19	66					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230116	56230116	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:56230116G>A	ENST00000279791.1	-	1	761	c.762C>T	c.(760-762)atC>atT	p.I254I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GATACATGAAGATGGGGGTCC	0.512000													14	51					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420406	216420406	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:216420406C>G	ENST00000366943.2	-	13	2716	c.2330G>C	c.(2329-2331)tGt>tCt	p.C777S	USH2A_ENST00000366942.3_Missense_Mutation_p.C777S|USH2A_ENST00000307340.3_Missense_Mutation_p.C777S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	777	Laminin EGF-like 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAGGTGTCACACTGAAGTCC	0.488000										HNSCC(13;0.011)			21	120					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1377914	1377914	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:1377914C>A	ENST00000359786.5	-	17	2111	c.1787G>T	c.(1786-1788)cGg>cTg	p.R596L	MYO1C_ENST00000545534.2_Missense_Mutation_p.R572L|MYO1C_ENST00000361007.2_Missense_Mutation_p.R561L|MYO1C_ENST00000438665.2_Missense_Mutation_p.R577L|MYO1C_ENST00000575158.1_Missense_Mutation_p.R561L	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	596	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGTCTCTGGCCGCTTCTTGTC	0.637000													34	79					2.05212e-20	3.4219e-20	1	1	0
MN1	4330	broad.mit.edu	37	22	28193887	28193887	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:28193887C>A	ENST00000302326.4	-	1	3599	c.2645G>T	c.(2644-2646)gGg>gTg	p.G882V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	882							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGGAGCAGTCCCTCCTGGGAA	0.697000			T	ETV6	"""AML, meningioma"""								5	39					0.000602214	0.000664149	1	1	0
SSTR1	6751	broad.mit.edu	37	14	38679167	38679167	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:38679167C>G	ENST00000267377.2	+	3	1190	c.573C>G	c.(571-573)ccC>ccG	p.P191P		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	191					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	p.P191P(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TCATCCTGCCCATCGTGGTCT	0.657000													15	51					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98144650	98144650	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:98144650C>A	ENST00000370192.3	-	8	951		c.e8+1			NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase						'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AAACTACTCACCTATTCCAAT	0.308000													6	5					3.59834e-05	4.18836e-05	1	1	0
CSAG4	100130935	broad.mit.edu	37	X	151896316	151896316	+	RNA	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:151896316G>C	ENST00000361201.4	-	0	414					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						CTTCCTTGACGGGTCCCTGTT	0.537000													20	27					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30066964	30066964	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:30066964C>A	ENST00000331968.5	-	16	2396	c.2166_splice	c.e16-1	p.V723_splice	PRKD1_ENST00000415220.2_Splice_Site_p.V731_splice	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	723	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.V723L(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAAAGTTTCACCTGTTGATGA	0.433000													12	46					2.31682e-05	2.71395e-05	1	1	0
LCP1	3936	broad.mit.edu	37	13	46718621	46718621	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:46718621C>A	ENST00000398576.2	-	14	1597	c.1209G>T	c.(1207-1209)tgG>tgT	p.W403C	LCP1_ENST00000323076.2_Missense_Mutation_p.W403C			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	403	Actin-binding 2.|CH 3.				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)		GGGAGTTCATCCAGTTCCTAA	0.403000			T	BCL6	NHL								9	91					0.00829132	0.00872406	1	1	0
ZNF462	58499	broad.mit.edu	37	9	109687314	109687314	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:109687314C>T	ENST00000277225.5	+	3	1410	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	ZNF462_ENST00000457913.1_Missense_Mutation_p.S374F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	374					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACCAATTCTTCTGCTGACCTG	0.413000													15	59					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44929405	44929405	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:44929405G>A	ENST00000377967.4	+	17	2546	c.2505G>A	c.(2503-2505)caG>caA	p.Q835Q	KDM6A_ENST00000382899.4_Silent_p.Q842Q|KDM6A_ENST00000543216.1_Silent_p.Q756Q|KDM6A_ENST00000536777.1_Silent_p.Q790Q	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	835					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCACTGAGCAGACAACCACAA	0.463000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								6	20					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409040	56409040	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:56409040A>T	ENST00000544374.1	-	1	907	c.879T>A	c.(877-879)aaT>aaA	p.N293K	OR5AP2_ENST00000302981.1_Missense_Mutation_p.N292K			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L294fs*5(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGATGAGGGGATTTAGCACAG	0.378000													10	47					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39449014	39449014	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:39449014A>G	ENST00000257408.4	+	4	2765	c.2668A>G	c.(2668-2670)Agt>Ggt	p.S890G		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	890	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CATCACCGCCAGTGGCATCGA	0.632000													9	64					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41020375	41020375	+	RNA	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:41020375T>C	ENST00000585538.1	+	0	1214					NR_002773.1																						GGGTGGCCTATGAAGTCAGTG	0.557000													6	19					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72973926	72973926	+	Missense_Mutation	SNP	G	G	C	rs141174965		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:72973926G>C	ENST00000262209.4	-	7	1085	c.878C>G	c.(877-879)tCg>tGg	p.S293W		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	293						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGAATAGGACGATATCATCAG	0.428000													29	71					0	0	1	0	0
BAK1	578	broad.mit.edu	37	6	33541968	33541968	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:33541968C>A	ENST00000374467.3	-	5	622	c.374G>T	c.(373-375)tGg>tTg	p.W125L	BAK1_ENST00000360661.5_Missense_Mutation_p.W125L|BAK1_ENST00000442998.2_Missense_Mutation_p.G132W	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	125					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CACACGGCCCCAATTGATGCC	0.627000													12	24					4.93089e-13	7.36346e-13	1	1	0
MTHFS	10588	broad.mit.edu	37	15	80181466	80181466	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:80181466C>A	ENST00000258874.3	-	2	408	c.348G>T	c.(346-348)gaG>gaT	p.E116D	ST20-MTHFS_ENST00000494999.1_5'UTR|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.E92D|MTHFS_ENST00000559722.1_5'UTR	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	116					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		GAACATCACCCTCACCAGGCT	0.453000													7	32					8.12818e-05	9.27883e-05	1	1	0
NOS3	4846	broad.mit.edu	37	7	150698952	150698952	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:150698952A>T	ENST00000297494.3	+	13	1903	c.1546A>T	c.(1546-1548)Aag>Tag	p.K516*	NOS3_ENST00000484524.1_Nonsense_Mutation_p.K516*|NOS3_ENST00000467517.1_Nonsense_Mutation_p.K516*|NOS3_ENST00000461406.1_Nonsense_Mutation_p.K310*	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	516					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGTGATGGCGAAGCGAGTGAA	0.652000													22	47					0	0	1	0	0
TMEM102	284114	broad.mit.edu	37	17	7339899	7339899	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:7339899G>C	ENST00000323206.1	+	3	874	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.E201Q	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	201					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CACTGAGCACGAGGCGCCGGT	0.567000													6	89					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193102	152193102	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:152193102G>T	ENST00000368801.2	-	3	1078	c.1003C>A	c.(1003-1005)Cgt>Agt	p.R335S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	335					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAATGGCCACGGCTGTAAGAG	0.582000													51	171					1.07234e-20	1.79257e-20	1	1	0
IGFL1	374918	broad.mit.edu	37	19	46733605	46733605	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:46733605C>A	ENST00000437936.1	+	3	177	c.154C>A	c.(154-156)Cag>Aag	p.Q52K	AC006262.10_ENST00000597337.1_RNA	NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	52						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		CGACCCCCTGCAGCACTGTTG	0.582000													21	138					1.00905e-13	1.51809e-13	1	1	0
CHD6	84181	broad.mit.edu	37	20	40045906	40045906	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:40045906C>A	ENST00000373233.3	-	32	6388	c.6211G>T	c.(6211-6213)Gct>Tct	p.A2071S		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2071					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGAGCTCGAGCCTCCTGTAGC	0.517000													12	102					5.50884e-06	6.63826e-06	1	1	0
OR4L1	122742	broad.mit.edu	37	14	20528261	20528261	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:20528261C>A	ENST00000315683.1	+	1	58	c.58C>A	c.(58-60)Cga>Aga	p.R20R		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATTTTTTGGACGATGGGAACT	0.368000													31	145					9.04072e-19	1.47103e-18	1	1	0
LPIN1	23175	broad.mit.edu	37	2	11922626	11922626	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:11922626G>T	ENST00000256720.2	+	7	1242	c.1149G>T	c.(1147-1149)agG>agT	p.R383S	LPIN1_ENST00000425416.2_Missense_Mutation_p.R389S|LPIN1_ENST00000449576.2_Missense_Mutation_p.R468S|LPIN1_ENST00000396097.1_Missense_Mutation_p.R113S|LPIN1_ENST00000396098.1_Missense_Mutation_p.R425S|LPIN1_ENST00000396099.1_Missense_Mutation_p.R425S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	383					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTCCTTCCAGGAAAAGAGGTA	0.522000													14	63					4.36969e-10	6.03376e-10	1	1	0
PCDH20	64881	broad.mit.edu	37	13	61987482	61987482	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:61987482C>A	ENST00000409186.1	-	5	2855	c.750G>T	c.(748-750)ctG>ctT	p.L250L	PCDH20_ENST00000409204.4_Silent_p.L250L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	223	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CATGGTAGTCCAGTAAGCGAT	0.542000													24	106					4.26978e-12	6.23307e-12	1	1	0
NARG2	79664	broad.mit.edu	37	15	60747597	60747597	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:60747597T>C	ENST00000261520.4	-	7	945	c.711A>G	c.(709-711)atA>atG	p.I237M	NARG2_ENST00000561114.1_Missense_Mutation_p.I237M|NARG2_ENST00000439632.1_Missense_Mutation_p.I100M	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	237						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GCTGCAACTTTATAGGCATTG	0.338000													19	72					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132618313	132618313	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:132618313C>A	ENST00000367963.3	-	12	1939	c.1821G>T	c.(1819-1821)acG>acT	p.T607T	MOXD1_ENST00000336749.3_Silent_p.T539T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	607					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TGGTGCTCAGCGTGCAGCTGA	0.443000													31	42					5.45727e-16	8.48908e-16	1	1	0
MBTPS1	8720	broad.mit.edu	37	16	84101950	84101950	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:84101950G>C	ENST00000343411.3	-	15	2560	c.2065C>G	c.(2065-2067)Cag>Gag	p.Q689E		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	689					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTACCATACTGACTGGCATCA	0.488000													15	119					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807592	143807592	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:143807592G>A	ENST00000408979.2	+	1	986	c.917G>A	c.(916-918)aGg>aAg	p.R306K		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GCACTCCAGAGGAAGAGGTCC	0.438000													50	104					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703575	4703575	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:4703575C>A	ENST00000396950.3	-	2	606	c.367G>T	c.(367-369)Gtg>Ttg	p.V123L		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAGATGGCCACATAACGGTCA	0.517000													7	60					8.12818e-05	9.27883e-05	1	1	0
KRT40	125115	broad.mit.edu	37	17	39139320	39139320	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:39139320C>A	ENST00000377755.4	-	2	542	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S	KRT40_ENST00000398486.2_Missense_Mutation_p.A170S			Q6A162	K1C40_HUMAN	keratin 40	170	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TCATCAGTGGCCAGTTTGCAG	0.348000													33	97					2.26627e-22	3.83611e-22	1	1	0
POPDC2	64091	broad.mit.edu	37	3	119361365	119361365	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:119361365C>A	ENST00000264231.3	-	4	1219	c.1053G>T	c.(1051-1053)agG>agT	p.R351S	POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_3'UTR|POPDC2_ENST00000493094.1_3'UTR	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	351						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GGGCCTGTCCCCTGGATATAA	0.473000													14	76					2.23348e-06	2.72891e-06	1	1	0
PSG7	5676	broad.mit.edu	37	19	43428878	43428878	+	RNA	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:43428878A>G	ENST00000406070.2	-	0	1438					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				tccaactctgacttatagggc	0.433000													6	77					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31508135	31508135	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:31508135C>A	ENST00000417556.2	-	2	805	c.175G>T	c.(175-177)Gcc>Tcc	p.A59S	DDX39B_ENST00000396172.1_Missense_Mutation_p.A59S|DDX39B_ENST00000415382.2_Silent_p.G54G|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000449074.2_Missense_Mutation_p.A59S|DDX39B_ENST00000453105.2_Silent_p.G54G|DDX39B_ENST00000458640.1_Missense_Mutation_p.A59S|DDX39B_ENST00000376177.2_Missense_Mutation_p.A59S			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	59					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCGACAATGGCCCGGAGCAAC	0.517000													18	58					1.02788e-11	1.48973e-11	1	1	0
CENPI	2491	broad.mit.edu	37	X	100381766	100381766	+	Silent	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:100381766A>G	ENST00000372927.1	+	8	1033	c.756A>G	c.(754-756)gtA>gtG	p.V252V	CENPI_ENST00000218507.5_Silent_p.V252V|CENPI_ENST00000372926.1_Silent_p.V252V|CENPI_ENST00000423383.1_Silent_p.V252V	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	252					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TGATTTCAGTATCTTTGCCTG	0.338000													68	117					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31618904	31618904	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:31618904G>T	ENST00000225823.2	-	1	1102	c.230C>A	c.(229-231)aCg>aAg	p.T77K	ASIC2_ENST00000359872.6_Intron	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	34					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCCAGCCGCCGTGCGCCCGGC	0.721000													11	14					5.50884e-06	6.63826e-06	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208201402	208201402	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:208201402C>G	ENST00000367033.3	-	31	6298	c.5541G>C	c.(5539-5541)ctG>ctC	p.L1847L	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1847					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)		TGAGGGCACTCAGCATGTTGA	0.572000													17	84					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107114572	107114572	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:107114572G>T	ENST00000392842.1	+	13	1683	c.1269G>T	c.(1267-1269)gtG>gtT	p.V423V	RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Silent_p.V329V|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.V432V	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	423	Necessary for dimerization.			V -> E (in Ref. 4; BAC11288).	transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TGAAGAAAGTGGCCCAGCAGT	0.517000													17	61					2.35188e-11	3.38429e-11	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34962665	34962665	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:34962665G>A	ENST00000329357.5	+	1	1753	c.1717G>A	c.(1717-1719)Gta>Ata	p.V573I		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	573										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCCAAGCCCGTACTTGAAAA	0.468000													17	97					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109016956	109016956	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:109016956G>T	ENST00000388962.3	-	3	1257	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	SELPLG_ENST00000228463.6_Silent_p.P392P|SELPLG_ENST00000550948.1_Silent_p.P376P	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	376					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CTGTGGCAGAGGGCCCCTCAC	0.657000													4	18					0.00116845	0.00126781	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													6	77					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12721820	12721820	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:12721820G>T	ENST00000376221.1	+	3	404	c.404G>T	c.(403-405)tGc>tTc	p.C135F		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	135						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CATGGCCTGTGCAATTATCTG	0.522000													33	76					1.22384e-17	1.95814e-17	1	1	0
ARMC5	79798	broad.mit.edu	37	16	31471185	31471185	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:31471185G>T	ENST00000457010.2	+	1	1041	c.340G>T	c.(340-342)Gtg>Ttg	p.V114L	ARMC5_ENST00000538189.1_Missense_Mutation_p.V146L|ARMC5_ENST00000268314.4_Missense_Mutation_p.V114L|ARMC5_ENST00000408912.3_Missense_Mutation_p.V209L|ARMC5_ENST00000563544.1_Missense_Mutation_p.V114L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	114							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ccccTCCGCTGTGTCGTCGTC	0.741000													11	16					3.86212e-05	4.47473e-05	1	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37531419	37531419	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:37531419C>T	ENST00000299824.1	+	6	869	c.680C>T	c.(679-681)gCc>gTc	p.A227V	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A227V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	227					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGGATAGATGCCCAGGGTGCC	0.587000													9	89					0	0	1	0	0
C2orf27B	408029	broad.mit.edu	37	2	132558497	132558497	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:132558497G>T	ENST00000303798.2	-	2	506	c.14C>A	c.(13-15)cCt>cAt	p.P5H		NM_214461.1	NP_999626.1	Q580R0	CB027_HUMAN	chromosome 2 open reading frame 27B	0										NS(1)	1						TCCACTCTCAGGCCTGACAAA	0.587000													21	103					9.95505e-16	1.54499e-15	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5146425	5146425	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:5146425G>A	ENST00000274181.7	+	3	496	c.358G>A	c.(358-360)Gct>Act	p.A120T	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.A120T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	120					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGCCTAGTGGCTCCTGGCTT	0.532000													15	129					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705117	2705117	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:2705117G>T	ENST00000399655.1	+	20	3006	c.2741G>T	c.(2740-2742)aGc>aTc	p.S914I	CACNA1C_ENST00000399638.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S914I|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S914I|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S939I|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S914I|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S914I|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S914I|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S914I|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S914I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	914					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTGCTCAGCAGCATTTCCCTG	0.577000													29	33					1.17739e-12	1.74019e-12	1	1	0
IGKV1-12	28940	broad.mit.edu	37	2	89339991	89339991	+	RNA	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:89339991G>A	ENST00000480492.1	-	0	127																											ATGGAGACTGGGTCATCTGGA	0.463000													31	208					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919408	4919408	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:4919408C>A	ENST00000433855.1	+	1	1067	c.201C>A	c.(199-201)ctC>ctA	p.L67L	KCNA6_ENST00000280684.3_Silent_p.L67L	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	67						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACACGCTGCTCGGAGACCCTG	0.622000										HNSCC(72;0.22)			9	73					1.12685e-05	1.34422e-05	1	1	0
FOXN1	8456	broad.mit.edu	37	17	26857768	26857768	+	Splice_Site	SNP	A	A	G	rs113979879	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:26857768A>G	ENST00000226247.2	+	5	861	c.830_splice	c.e5-1	p.I278_splice	FOXN1_ENST00000579795.1_Splice_Site_p.I278_splice	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	278					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TTTCTTCAGCATCCTCATCTT	0.532000													17	67					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75855921	75855921	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:75855921C>A	ENST00000322507.8	-	24	4766	c.4457G>T	c.(4456-4458)gGc>gTc	p.G1486V	COL12A1_ENST00000416123.2_Missense_Mutation_p.G1486V|COL12A1_ENST00000483888.2_Missense_Mutation_p.G1486V|COL12A1_ENST00000345356.6_Missense_Mutation_p.G322V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1486	Fibronectin type-III 10.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGTGGTAGGGCCAACATCATA	0.463000													10	30					0.0581538	0.0593911	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40656339	40656339	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:40656339C>A	ENST00000406785.1	-	2	1271	c.1082G>T	c.(1081-1083)aGa>aTa	p.R361I	SLC8A1_ENST00000408028.2_Missense_Mutation_p.R361I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R361I|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R361I|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R361I|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R361I|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R361I|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R361I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R361I|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R361I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	361					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATAAAATGCTCTACTTTTTTG	0.423000													30	86					1.39806e-14	2.13683e-14	1	1	0
MAP3K7CL	56911	broad.mit.edu	37	21	30547129	30547129	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr21:30547129G>T	ENST00000399935.2	+	10	1012	c.345G>T	c.(343-345)cgG>cgT	p.R115R	MAP3K7CL_ENST00000399928.1_Silent_p.R115R|MAP3K7CL_ENST00000545939.1_Silent_p.R109R|MAP3K7CL_ENST00000339024.4_Silent_p.R115R|MAP3K7CL_ENST00000399934.1_Silent_p.R115R|MAP3K7CL_ENST00000399947.2_Silent_p.R215R|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000341618.4_Silent_p.R215R|MAP3K7CL_ENST00000399926.1_Silent_p.R115R|MAP3K7CL_ENST00000399925.1_Silent_p.R115R					MAP3K7 C-terminal like																		AGGAGAATCGGACGTTGAGGT	0.488000													27	35					2.41591e-17	3.85018e-17	1	1	0
CAPN11	11131	broad.mit.edu	37	6	44148732	44148732	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:44148732G>A	ENST00000542245.1	+	18	1905	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	CAPN11_ENST00000398776.1_Missense_Mutation_p.D623N			Q9UMQ6	CAN11_HUMAN	calpain 11	623	Domain IV.|EF-hand 1.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAACCTCATGGATGTATCCTC	0.592000													70	196					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93760476	93760476	+	Missense_Mutation	SNP	C	C	A	rs138673267	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:93760476C>A	ENST00000334746.5	-	3	1197	c.890G>T	c.(889-891)cGa>cTa	p.R297L	BTBD7_ENST00000298896.3_Missense_Mutation_p.R297L|BTBD7_ENST00000393170.2_5'UTR|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Missense_Mutation_p.R297L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	297	BTB 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TTCACCAGTTCGTATCCTCCT	0.383000													10	48					9.70103e-10	1.32952e-09	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57766531	57766531	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:57766531T>G	ENST00000371030.2	+	1	457	c.457T>G	c.(457-459)Tgc>Ggc	p.C153G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	153						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGTCGCGACTGCCTGAAGCC	0.652000													14	145					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21940666	21940666	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:21940666C>G	ENST00000328843.6	+	83	13397	c.13366C>G	c.(13366-13368)Cgt>Ggt	p.R4456G	DNAH11_ENST00000409508.3_Missense_Mutation_p.R4449G|CDCA7L_ENST00000406877.3_3'UTR|CDCA7L_ENST00000356195.5_3'UTR			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4456					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						TGTTGAAGCCCGTCTCAAGGA	0.527000									Kartagener syndrome				60	156					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34833896	34833896	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:34833896C>A	ENST00000420428.2	-	12	1734	c.1339G>T	c.(1339-1341)Gtg>Ttg	p.V447L	CELF4_ENST00000591287.1_Missense_Mutation_p.V445L|CELF4_ENST00000603232.1_Missense_Mutation_p.V446L|CELF4_ENST00000591282.1_Missense_Mutation_p.V447L|CELF4_ENST00000361795.5_Missense_Mutation_p.V445L|CELF4_ENST00000590011.1_5'UTR|CELF4_ENST00000412753.1_Missense_Mutation_p.V446L|CELF4_ENST00000601019.1_Missense_Mutation_p.V445L|CELF4_ENST00000334919.5_Missense_Mutation_p.V409L	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	447	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TCGAAGCTCACGAAGCCTGGC	0.721000													8	36					0.27861	0.279581	1	1	0
FAF2	23197	broad.mit.edu	37	5	175923620	175923620	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:175923620C>A	ENST00000261942.6	+	8	848	c.795C>A	c.(793-795)atC>atA	p.I265I		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	265					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TGACATTTATCATGGATGCTA	0.478000													6	91					0.00116845	0.00126781	1	1	0
CCDC67	159989	broad.mit.edu	37	11	93127795	93127795	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:93127795A>G	ENST00000298050.3	+	10	1312	c.1212A>G	c.(1210-1212)atA>atG	p.I404M	CCDC67_ENST00000525646.1_Missense_Mutation_p.I146M	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	404										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AATTAGAAATAAAAGAAAAAA	0.383000													3	26					0	0	1	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291625	5291625	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:5291625C>G	ENST00000357006.4	-	4	920	c.582G>C	c.(580-582)acG>acC	p.T194T	ZBTB14_ENST00000400143.3_Silent_p.T194T	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		GAACCCTGAGCGTTGTGGTGG	0.542000													90	195					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124249001	124249001	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:124249001T>A	ENST00000368984.3	+	3	764	c.636T>A	c.(634-636)gaT>gaA	p.D212E		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	212	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGTCGGAAGATGGACTGATCG	0.498000													16	98					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39510010	39510010	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:39510010C>A	ENST00000537403.1	-	14	2664	c.1462G>T	c.(1462-1464)Gat>Tat	p.D488Y	SEC23A_ENST00000545328.2_Missense_Mutation_p.D661Y|SEC23A_ENST00000536508.1_Missense_Mutation_p.D588Y|SEC23A_ENST00000307712.6_Missense_Mutation_p.D690Y			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	690					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TGTGCATCATCCACTGGGGCT	0.428000													31	102					3.80469e-20	6.3286e-20	1	1	0
PCDHA12	56137	broad.mit.edu	37	5	140256600	140256600	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140256600G>T	ENST00000398631.2	+	1	1543	c.1543G>T	c.(1543-1545)Ggc>Tgc	p.G515C	PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGAGCGGCAAGGTGTA	0.701000													31	93					2.49675e-24	4.27287e-24	1	1	0
NRROS	375387	broad.mit.edu	37	3	196387597	196387597	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:196387597G>T	ENST00000328557.4	+	3	1286	c.1083G>T	c.(1081-1083)caG>caT	p.Q361H		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		ACCTCCACCAGAATTGCCTGA	0.607000													19	83					3.51602e-12	5.15887e-12	1	1	0
FUT6	2528	broad.mit.edu	37	19	5832021	5832021	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:5832021C>A	ENST00000318336.4	-	3	1752	c.558G>T	c.(556-558)tcG>tcT	p.S186S	FUT6_ENST00000592563.1_Silent_p.S186S|FUT6_ENST00000524754.1_Silent_p.S186S|FUT6_ENST00000527106.1_Silent_p.S186S|FUT6_ENST00000286955.5_Silent_p.S186S	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	186					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CGGTCTTGGCCGAGAGGTTGA	0.662000													10	51					7.48243e-07	9.29426e-07	1	1	0
PLCXD2	257068	broad.mit.edu	37	3	111427069	111427069	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:111427069C>T	ENST00000393934.3	+	2	1030	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	PLCXD2_ENST00000477665.1_Missense_Mutation_p.P154S	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	154	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TACACAGCACCCCCAGGAGAT	0.502000													21	128					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34663022	34663022	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:34663022C>G	ENST00000488417.1	+	2	637	c.517C>G	c.(517-519)Cgc>Ggc	p.R173G	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	0							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CAGTAATGAGCGCCCCAGAGC	0.597000													11	47					0	0	1	0	0
MRPL3	11222	broad.mit.edu	37	3	131206585	131206585	+	Splice_Site	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:131206585C>T	ENST00000264995.3	-	6	716		c.e6-1		MRPL3_ENST00000425847.2_Splice_Site	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3						translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGAGGAGTGCCTTTATGAAAA	0.373000													9	47					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8870893	8870893	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:8870893G>C	ENST00000256707.3	-	30	5454	c.5273C>G	c.(5272-5274)tCt>tGt	p.S1758C	KIDINS220_ENST00000427284.1_Missense_Mutation_p.S1739C|KIDINS220_ENST00000418530.1_Missense_Mutation_p.S1659C|KIDINS220_ENST00000473731.1_Missense_Mutation_p.S1739C	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1758					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGTGCTCTCAGAAGAGGCTGC	0.438000													5	52					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404775	10404775	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:10404775C>A	ENST00000226207.5	-	27	3484	c.3390G>T	c.(3388-3390)cgG>cgT	p.R1130R	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1130						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						CCCGGGAGGCCCGCTCTGCCT	0.572000													20	43					5.03518e-11	7.18396e-11	1	1	0
ATF6B	1388	broad.mit.edu	37	6	32088575	32088575	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:32088575G>T	ENST00000375201.4	-	8	841	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	ATF6B_ENST00000375203.3_Missense_Mutation_p.L269M			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	269					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGGGACTGCAGAAGGACTGTG	0.627000													7	158					0.248553	0.249667	1	1	0
PTPN23	25930	broad.mit.edu	37	3	47454076	47454076	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:47454076C>A	ENST00000265562.4	+	24	4467	c.4390C>A	c.(4390-4392)Cct>Act	p.P1464T	PTPN23_ENST00000431726.1_Missense_Mutation_p.P1338T	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1464					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGTGTGCCTCCTCCATGCAA	0.607000													4	44					0.00909568	0.00950591	1	1	0
TTC7B	145567	broad.mit.edu	37	14	91252635	91252635	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:91252635C>A	ENST00000357056.2	-	2	280	c.159G>T	c.(157-159)ctG>ctT	p.L53L	TTC7B_ENST00000328459.6_Silent_p.L53L			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	53							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GGTACTGCTCCAGCTTCGACT	0.607000													13	66					4.36969e-10	6.03376e-10	1	1	0
SPPL2A	84888	broad.mit.edu	37	15	51012167	51012167	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:51012167C>A	ENST00000261854.5	-	14	1732	c.1458G>T	c.(1456-1458)atG>atT	p.M486I		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	486						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		AGAACTTTTTCATTTCCTTAC	0.408000													18	59					1.67942e-08	2.22597e-08	1	1	0
RP11-909M7.3	0	broad.mit.edu	37	14	101451120	101451120	+	RNA	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:101451120G>A	ENST00000554693.2	+	0	886				SNORD114-24_ENST00000365029.1_RNA																							ATCCTGGATCGATGGTGACTG	0.343000													17	87					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272318	164272318	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:164272318C>G	ENST00000515560.1	+	4	2415	c.893C>G	c.(892-894)cCt>cGt	p.P298R	NPY5R_ENST00000338566.3_Missense_Mutation_p.P298R|NPY5R_ENST00000506953.1_Missense_Mutation_p.P298R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	298					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTGTGTTACCTGCTCCAGAA	0.423000													6	91					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890118	51890118	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:51890118C>T	ENST00000371117.3	-	32	4765	c.4490G>A	c.(4489-4491)gGg>gAg	p.G1497E	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1497E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1497	IPT/TIG 10.				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)					GGTCAGAGACCCACTGGTGTT	0.493000													27	75					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207473	58207473	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:58207473G>T	ENST00000302572.2	-	1	173	c.152C>A	c.(151-153)tCc>tAc	p.S51Y		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGGAGACAGGAGTCCAGTAG	0.498000													17	68					1.5739e-10	2.21577e-10	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2757647	2757647	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:2757647G>A	ENST00000399655.1	+	31	4184	c.3919G>A	c.(3919-3921)Gaa>Aaa	p.E1307K	CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1335K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1307K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1307K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E1355K|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1307K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1332K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1307K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1307K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1307K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1307K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1307K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1307K|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1327K|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1307K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1307K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1307K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1307K|CACNA1C_ENST00000399591.1_Intron	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1355					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AAAGCCAGCTGAACATACCCA	0.542000													5	76					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6859896	6859896	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:6859896G>T	ENST00000419673.2	+	4	466	c.249_splice	c.e4+1	p.V83_splice	ARHGAP28_ENST00000531294.1_Splice_Site_p.V78_splice|ARHGAP28_ENST00000383472.4_Splice_Site_p.V242_splice|ARHGAP28_ENST00000532996.1_Splice_Site_p.V65_splice|ARHGAP28_ENST00000262227.3_Splice_Site_p.V190_splice|ARHGAP28_ENST00000418986.1_Splice_Site_p.V83_splice|ARHGAP28_ENST00000314319.3_Splice_Site_p.V83_splice|ARHGAP28_ENST00000400091.2_Splice_Site_p.V242_splice	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	65					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GTGACTCTGTGGTAAGTCATC	0.428000													54	115					3.50607e-19	5.75589e-19	1	1	0
CDH10	1008	broad.mit.edu	37	5	24509906	24509906	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:24509906C>G	ENST00000264463.4	-	7	1532	c.1025G>C	c.(1024-1026)aGa>aCa	p.R342T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	342	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTATAAAGTCTTCGGCTCTC	0.363000										HNSCC(23;0.051)			43	54					0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97246934	97246934	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:97246934C>A	ENST00000229955.3	-	2	1019	c.674G>T	c.(673-675)cGa>cTa	p.R225L	GPR63_ENST00000417980.1_Missense_Mutation_p.R225L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	225						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CTGGGGAGCTCGGGAAGGTAT	0.453000													8	90					0.000274275	0.000305154	1	1	0
PCDH15	65217	broad.mit.edu	37	10	56287590	56287590	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:56287590C>T	ENST00000373965.2	-	3	533	c.139G>A	c.(139-141)Gat>Aat	p.D47N	PCDH15_ENST00000373955.1_Missense_Mutation_p.D47N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D47N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D47N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D52N|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D47N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D47N|PCDH15_ENST00000395440.1_Missense_Mutation_p.D47N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D47N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D47N|RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000395445.1_Missense_Mutation_p.D47N|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.D47N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D47N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	47	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)				CTTTCTTCATCAATAGCAACT	0.358000										HNSCC(58;0.16)			7	55					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66467419	66467419	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:66467419C>A	ENST00000273854.3	-	3	1450	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L	EPHA5_ENST00000432638.2_Missense_Mutation_p.V284L|EPHA5_ENST00000511294.1_Missense_Mutation_p.V284L|EPHA5_ENST00000354839.4_Missense_Mutation_p.V284L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	284	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCGATGGGCACCAGCCACTCC	0.527000										TSP Lung(17;0.13)			32	54					1.80694e-10	2.53324e-10	1	1	0
KDM6B	23135	broad.mit.edu	37	17	7750311	7750311	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:7750311G>T	ENST00000254846.5	+	9	1275	c.886G>T	c.(886-888)Ggt>Tgt	p.G296C	KDM6B_ENST00000448097.2_Missense_Mutation_p.G296C	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	296	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AGAGCGCAAGGGTTCAGCACC	0.617000													9	48					1.12685e-05	1.34422e-05	1	1	0
ALPK1	80216	broad.mit.edu	37	4	113359731	113359731	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:113359731G>T	ENST00000458497.1	+	13	3559	c.3280G>T	c.(3280-3282)Gaa>Taa	p.E1094*	ALPK1_ENST00000177648.9_Nonsense_Mutation_p.E1094*|ALPK1_ENST00000504176.2_Nonsense_Mutation_p.E1016*	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1094	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTATGTGACAGAATTTAACAA	0.433000													8	111					0.00307968	0.00328673	1	1	0
METTL22	79091	broad.mit.edu	37	16	8738439	8738439	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:8738439G>A	ENST00000381920.3	+	10	1294	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.D290N	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	346							methyltransferase activity			large_intestine(5)|lung(4)	9						GAGACACTTGGACGTCACATG	0.577000													18	291					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182871592	182871592	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:182871592C>A	ENST00000265598.3	-	2	892	c.637G>T	c.(637-639)Ggg>Tgg	p.G213W	LAMP3_ENST00000466939.1_Missense_Mutation_p.G189W	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	213	Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGGGTGGGCCCAGGAACCGTG	0.557000													16	107					6.72482e-11	9.53393e-11	1	1	0
C2orf53	339779	broad.mit.edu	37	2	27360806	27360806	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:27360806G>T	ENST00000335524.3	-	3	917	c.392C>A	c.(391-393)tCc>tAc	p.S131Y		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	131	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ctgaggctgggagggagaaaa	0.617000													12	19					6.40141e-05	7.37443e-05	1	1	0
ACOT12	134526	broad.mit.edu	37	5	80643701	80643701	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:80643701G>T	ENST00000307624.3	-	6	573	c.545C>A	c.(544-546)tCc>tAc	p.S182Y		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	182	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GCTCTGAACGGAGGTGCCCCT	0.488000													41	212					4.32679e-17	6.87919e-17	1	1	0
NCOA6	23054	broad.mit.edu	37	20	33364108	33364108	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:33364108C>A	ENST00000374796.2	-	5	2949	c.379G>T	c.(379-381)Gtt>Ttt	p.V127F	NCOA6_ENST00000359003.2_Missense_Mutation_p.V127F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	127	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCAATCTGAACGGAGAGAATC	0.488000													19	74					4.96729e-08	6.46903e-08	1	1	0
MORF4L1	10933	broad.mit.edu	37	15	79183909	79183909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:79183909G>T	ENST00000331268.5	+	8	754	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	MORF4L1_ENST00000558502.1_Nonsense_Mutation_p.E57*|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000379535.4_Nonsense_Mutation_p.E170*|MORF4L1_ENST00000559345.1_Nonsense_Mutation_p.E57*|MORF4L1_ENST00000558746.1_Nonsense_Mutation_p.E118*|MORF4L1_ENST00000426013.2_Nonsense_Mutation_p.E145*	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	184	Interaction with RB1-1.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TCCTACTGTTGAAAATGTGAG	0.443000													17	33					6.49762e-13	9.63177e-13	1	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17697400	17697400	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:17697400T>A	ENST00000399080.2	-	1	2306	c.2283A>T	c.(2281-2283)caA>caT	p.Q761H		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	761										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATTTAAATCTTGGCTGTGCA	0.338000													12	52					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209948949	209948949	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:209948949C>A	ENST00000367024.1	+	11	1437	c.921C>A	c.(919-921)tcC>tcA	p.S307S	TRAF3IP3_ENST00000400959.3_Silent_p.S287S|TRAF3IP3_ENST00000367023.1_Silent_p.S43S|TRAF3IP3_ENST00000367025.3_Silent_p.S307S|TRAF3IP3_ENST00000367026.3_Silent_p.S287S|TRAF3IP3_ENST00000010338.4_Silent_p.S287S|TRAF3IP3_ENST00000477431.1_Silent_p.S43S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	307						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CTCAGCGATCCCTGGCCCTGG	0.617000													7	65					0.00198382	0.00212846	1	1	0
OR4M2	390538	broad.mit.edu	37	15	22369410	22369410	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:22369410T>A	ENST00000332663.2	+	1	933	c.835T>A	c.(835-837)Tta>Ata	p.L279I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	279					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)		GTTCAATACTTTAATATTCCC	0.378000													23	100					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77245369	77245369	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:77245369G>T	ENST00000341514.6	+	4	1406	c.1251G>T	c.(1249-1251)ggG>ggT	p.G417G	ATP7A_ENST00000343533.5_Silent_p.G417G|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	417	HMA 4.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ATAGCAATGGGACTGTTGAGT	0.408000													28	43					2.41591e-17	3.85018e-17	1	1	0
SLC16A2	6567	broad.mit.edu	37	X	73749081	73749081	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:73749081A>G	ENST00000276033.5	+	5	1592	c.1426A>G	c.(1426-1428)Atg>Gtg	p.M476V	SLC16A2_ENST00000587091.1_Missense_Mutation_p.M402V			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	402						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CCTGATGTCCATGATGATTCC	0.567000													19	11					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41573548	41573548	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:41573548G>T	ENST00000262415.3	+	9	1284		c.e9-1		DHX8_ENST00000540306.1_Splice_Site	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8							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)		TCTTTGGCTAGATGATTGCTG	0.378000													10	40					2.80697e-09	3.78013e-09	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177936885	177936885	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:177936885C>T	ENST00000308284.6	-	2	321	c.232G>A	c.(232-234)Gac>Aac	p.D78N	RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.D78N|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.D78N	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	78	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGATGCCAGTCCCCTGGCCTG	0.542000													16	67					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52979952	52979952	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:52979952G>A	ENST00000293745.2	-	9	1435	c.1350C>T	c.(1348-1350)gtC>gtT	p.V450V	KRT72_ENST00000537672.2_Silent_p.V450V|KRT72_ENST00000398066.3_Silent_p.V262V|KRT72_ENST00000354310.4_Silent_p.V408V	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	450	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGCTGCTGATGACGGCTGGAA	0.592000													6	26					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661949	6661949	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:6661949C>A	ENST00000299441.3	-	2	1307	c.896G>T	c.(895-897)aGc>aTc	p.S299I		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	299	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCACCCTCGCTCTGCCTCCG	0.612000													32	64					3.99451e-17	6.3559e-17	1	1	0
CHD2	1106	broad.mit.edu	37	15	93489273	93489273	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:93489273A>T	ENST00000394196.4	+	12	2272	c.1204A>T	c.(1204-1206)Agt>Tgt	p.S402C	CHD2_ENST00000557381.1_Missense_Mutation_p.S402C|CHD2_ENST00000536619.1_Missense_Mutation_p.S415C|CHD2_ENST00000420239.2_Missense_Mutation_p.S402C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	402	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AATAGCTCATAGTCGGAAGCC	0.363000													10	43					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539786	56539786	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:56539786C>A	ENST00000390649.3	+	7	2187	c.2187C>A	c.(2185-2187)caC>caA	p.H729Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	729						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCCTCCAGCACTGTCCGTATT	0.498000													34	168					4.31634e-10	5.98057e-10	1	1	0
CPSF7	79869	broad.mit.edu	37	11	61179384	61179384	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:61179384C>A	ENST00000340437.4	-	8	1319	c.1239G>T	c.(1237-1239)acG>acT	p.T413T	CPSF7_ENST00000448745.1_Silent_p.T361T|CPSF7_ENST00000394888.4_Silent_p.T370T|CPSF7_ENST00000439958.3_Silent_p.T361T	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	370					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTGTGAGCAGCGTCTCAATTG	0.502000													20	33					2.4624e-09	3.33167e-09	1	1	0
ZNF165	7718	broad.mit.edu	37	6	28056781	28056781	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:28056781C>G	ENST00000377325.1	+	4	1547	c.991C>G	c.(991-993)Ctt>Gtt	p.L331V		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	331					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGCCCAAAACTTGCTAAACA	0.373000													5	70					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058385	56058385	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:56058385C>A	ENST00000313022.2	-	1	181	c.154G>T	c.(154-156)Gac>Tac	p.D52Y		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGCTGGAGGTCCAGGCGGATT	0.413000													61	245					1.14385e-22	1.94436e-22	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767249	77767249	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:77767249C>A	ENST00000521891.2	+	10	8540	c.8092C>A	c.(8092-8094)Cac>Aac	p.H2698N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2653N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2672N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2653N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2653						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)			TCGCTCTCGGCACTGGAATGA	0.512000										HNSCC(33;0.089)			23	43					1.50039e-11	2.1652e-11	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9054273	9054273	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:9054273G>T	ENST00000382496.5	-	19	3280	c.2615C>A	c.(2614-2616)gCc>gAc	p.A872D		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	872	TSP type-1 6.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATAGGCCGGGGCTGGATTGGA	0.602000													30	54					2.4375e-19	4.00815e-19	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32598101	32598101	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr21:32598101C>A	ENST00000286827.3	-	8	2221	c.1750G>T	c.(1750-1752)Ggt>Tgt	p.G584C	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.G584C	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	584					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						TGCATTTCACCCATTTTCTTC	0.418000													40	73					2.26627e-22	3.83611e-22	1	1	0
VPS53	55275	broad.mit.edu	37	17	530465	530465	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:530465C>A	ENST00000437048.2	-	10	1069	c.923G>T	c.(922-924)cGt>cTt	p.R308L	VPS53_ENST00000446250.2_Missense_Mutation_p.R110L|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.R308L|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Missense_Mutation_p.R279L|VPS53_ENST00000574029.1_Intron	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	308					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCACCACTCACGTGGAAACAT	0.488000													9	39					1.12685e-05	1.34422e-05	1	1	0
ZNF324B	388569	broad.mit.edu	37	19	58965696	58965696	+	Missense_Mutation	SNP	G	G	A	rs143965702	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:58965696G>A	ENST00000336614.4	+	3	330	c.223G>A	c.(223-225)Ggg>Agg	p.G75R	ZNF324B_ENST00000545523.1_Missense_Mutation_p.G75R|ZNF324B_ENST00000391696.1_5'UTR|ZNF324B_ENST00000594214.1_Missense_Mutation_p.G75R	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GAACACCTACGGGAGGCTCAA	0.577000													5	78					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26410254	26410254	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:26410254G>A	ENST00000289361.6	+	7	1326	c.958G>A	c.(958-960)Gca>Aca	p.A320T	BTN3A1_ENST00000425234.2_Missense_Mutation_p.A320T|BTN3A1_ENST00000476549.2_Missense_Mutation_p.A320T|BTN3A1_ENST00000414912.2_Missense_Mutation_p.A268T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	320					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TATCCAGTATGCATCTCGTAA	0.468000													9	159					0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22294785	22294785	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:22294785G>T	ENST00000306482.1	-	2	575	c.57C>A	c.(55-57)aaC>aaA	p.N19K	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	19					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					ACAGGAGCAGGTTTGACACCA	0.597000													11	21					4.68919e-08	6.11871e-08	1	1	0
ADAM11	4185	broad.mit.edu	37	17	42850448	42850448	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:42850448G>A	ENST00000200557.6	+	10	989	c.820G>A	c.(820-822)Gat>Aat	p.D274N	ADAM11_ENST00000535346.1_Missense_Mutation_p.D74N	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	274	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GAACCTGGCCGATGTGGTAAG	0.622000													14	36					0	0	1	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839717	27839717	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:27839717T>A	ENST00000328488.2	-	1	382	c.377A>T	c.(376-378)cAg>cTg	p.Q126L		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	126					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCGCAAGCTGGATGTCTTT	0.542000													34	201					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1573581	1573581	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:1573581C>A	ENST00000426508.2	-	26	3754	c.3391G>T	c.(3391-3393)Gac>Tac	p.D1131Y	IFT140_ENST00000361339.5_Missense_Mutation_p.D325Y	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1131										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ATGAAGAAGTCGGAGCAGCGG	0.652000													13	46					2.27111e-07	2.87417e-07	1	1	0
NXPE1	120400	broad.mit.edu	37	11	114393722	114393722	+	Silent	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:114393722A>G	ENST00000536271.1	-	3	1378	c.135T>C	c.(133-135)ttT>ttC	p.F45F	NXPE1_ENST00000251921.2_Silent_p.F187F|NXPE1_ENST00000424269.1_Silent_p.F329F					neurexophilin and PC-esterase domain family, member 1																		CCTGGTTGCAAAATGTTGTTA	0.403000													20	36					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345098	20345098	+	Silent	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:20345098T>C	ENST00000298642.2	+	1	708	c.672T>C	c.(670-672)acT>acC	p.T224T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTGGTTACTGTGAAGCATC	0.373000													18	260					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31218081	31218081	+	Silent	SNP	G	G	T	rs147978882	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:31218081G>T	ENST00000362065.4	+	10	2718	c.2427G>T	c.(2425-2427)acG>acT	p.T809T	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	809					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCCCACCACGGTCCTGTGCT	0.617000								Direct reversal of damage					33	151					1.36615e-20	2.28181e-20	1	1	0
ZNF234	10780	broad.mit.edu	37	19	44661977	44661977	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:44661977A>T	ENST00000426739.2	+	6	2066	c.1808A>T	c.(1807-1809)aAg>aTg	p.K603M	ZNF234_ENST00000592437.1_Missense_Mutation_p.K603M	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GAGTGTGGGAAGCACTTCAGT	0.488000													39	93					0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3951284	3951284	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:3951284C>A	ENST00000281228.8	-	0	242				FAM86EP_ENST00000313946.8_RNA																							GTGCTGGGGGCAGGCTGAGTG	0.542000													11	18					7.03913e-09	9.40416e-09	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3241049	3241049	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:3241049C>T	ENST00000217939.6	-	5	2831	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	893						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAGTCTTCTCGGAAAGGTCA	0.483000													8	65					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29005430	29005430	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:29005430G>A	ENST00000282397.4	-	7	1082	c.831C>T	c.(829-831)tcC>tcT	p.S277S	FLT1_ENST00000541932.1_Silent_p.S277S|FLT1_ENST00000539099.1_Silent_p.S277S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	277	Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTCGCCTTACGGAAGCTCTCT	0.328000													15	46					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700011	136700011	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:136700011C>A	ENST00000445907.2	+	3	927	c.399C>A	c.(397-399)gtC>gtA	p.V133V	AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Silent_p.V133V|CHRM2_ENST00000401861.1_Silent_p.V133V|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Silent_p.V133V|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Silent_p.V133V|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Silent_p.V133V|AC009264.1_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	133					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCTACCCAGTCAAGCGGACCA	0.493000													24	124					4.16121e-05	4.8185e-05	1	1	0
ARHGEF40	55701	broad.mit.edu	37	14	21542220	21542220	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:21542220C>T	ENST00000298694.4	+	3	458	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P111S			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	111					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCAGGTGGTGCCCTCAGCTGC	0.642000													8	100					0	0	1	0	0
DTD2	112487	broad.mit.edu	37	14	31917457	31917457	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:31917457C>G	ENST00000310850.4	-	3	501	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q	DTD2_ENST00000356180.4_Missense_Mutation_p.E129Q|CTD-2213F21.2_ENST00000502430.2_RNA|RP11-176H8.1_ENST00000547378.1_Intron	NM_080664.2	NP_542395.1			D-tyrosyl-tRNA deacylase 2 (putative)																		GCAGCTACTTCTTTTTCACAT	0.418000													82	155					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139601504	139601504	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:139601504C>A	ENST00000303045.6	-	65	5319	c.4873G>T	c.(4873-4875)Ggt>Tgt	p.G1625C	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1605C|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1625					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTAGGGACCCTTCACATTA	0.577000										HNSCC(7;0.00092)			10	27					0.00829132	0.00872406	1	1	0
RYR3	6263	broad.mit.edu	37	15	34140574	34140574	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:34140574C>G	ENST00000389232.4	+	94	13650	c.13580C>G	c.(13579-13581)tCt>tGt	p.S4527C	RYR3_ENST00000415757.3_Missense_Mutation_p.S4522C|RYR3_ENST00000559917.1_3'UTR	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4527					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAACAGCCATCTGAAGATGAC	0.493000													4	62					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773393	137773393	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:137773393C>A	ENST00000242375.3	+	2	182	c.140C>A	c.(139-141)aCa>aAa	p.T47K	AKR1D1_ENST00000411726.2_Missense_Mutation_p.T47K|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000432161.1_Missense_Mutation_p.T47K	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	47					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCTATTGACACAGGGTACCGA	0.488000													9	36					0.00621372	0.006562	1	1	0
CC2D1A	54862	broad.mit.edu	37	19	14031678	14031678	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:14031678G>A	ENST00000318003.7	+	14	1825	c.1584G>A	c.(1582-1584)aaG>aaA	p.K528K	CC2D1A_ENST00000589606.1_Silent_p.K528K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	528					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)			GCCAAGCCAAGGGACTGGAGC	0.622000													5	81					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1276738	1276738	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:1276738G>T	ENST00000447027.1	+	37	16083	c.16025G>T	c.(16024-16026)cGc>cTc	p.R5342L	MUC5B_ENST00000529681.1_Missense_Mutation_p.R5339L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5339					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)		GAGCTCTGCCGCGCCCGGGGA	0.716000													4	4					0.150653	0.152316	1	1	0
GPR39	2863	broad.mit.edu	37	2	133174715	133174715	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:133174715A>T	ENST00000329321.3	+	1	569	c.100A>T	c.(100-102)Att>Ttt	p.I34F		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	34						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATCACCCTTATTCTGGTGTA	0.542000													13	61					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109046868	109046868	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:109046868G>T	ENST00000335658.6	-	7	936	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	294						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTAAGACCTTGTTCCTATAAA	0.353000													30	189					4.22769e-11	6.0619e-11	1	1	0
PRLHR	2834	broad.mit.edu	37	10	120353942	120353942	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:120353942C>A	ENST00000239032.2	-	2	953	c.815G>T	c.(814-816)cGg>cTg	p.R272L	PRLHR_ENST00000369169.1_Missense_Mutation_p.R272L	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	272					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCGCCGGCGCCGAGCGCGGTC	0.682000													8	33					0.0381472	0.0390578	1	1	0
EMC1	23065	broad.mit.edu	37	1	19565330	19565330	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:19565330C>T	ENST00000477853.1	-	10	1090	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	EMC1_ENST00000375208.3_Missense_Mutation_p.D328N|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.D349N	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		ATTGACCCATCTTCAGAACTG	0.468000													33	81					0	0	1	0	0
TM4SF4	7104	broad.mit.edu	37	3	149205513	149205513	+	Silent	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:149205513T>C	ENST00000305354.4	+	3	1276	c.372T>C	c.(370-372)aaT>aaC	p.N124N		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	124						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCATGGCCAATAGTACATGGG	0.522000													6	62					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57484272	57484272	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:57484272G>T	ENST00000371100.4	+	7	3066		c.e7+1		GNAS_ENST00000313949.7_Splice_Site|GNAS_ENST00000265620.7_Splice_Site|GNAS_ENST00000354359.7_Splice_Site|GNAS_ENST00000306090.10_Splice_Site|GNAS_ENST00000371102.4_Splice_Site|GNAS_ENST00000371075.3_Splice_Site|GNAS_ENST00000464624.2_Splice_Site|GNAS_ENST00000371095.3_Splice_Site|GNAS_ENST00000371085.3_Splice_Site	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus						activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGCGATCAGGTGTGCAAAAC	0.502000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			99	172					1.43847e-43	2.54158e-43	1	1	0
TECTA	7007	broad.mit.edu	37	11	120989109	120989109	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:120989109G>C	ENST00000392793.1	+	7	1156	c.885G>C	c.(883-885)caG>caC	p.Q295H	TECTA_ENST00000264037.2_Missense_Mutation_p.Q295H			O75443	TECTA_HUMAN	tectorin alpha	295	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCTACTGCCAGGAGGCTTCCT	0.557000													6	64					0	0	1	0	0
IL17F	112744	broad.mit.edu	37	6	52101940	52101940	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:52101940G>T	ENST00000336123.4	-	3	388	c.281C>A	c.(280-282)cCc>cAc	p.P94H		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	94					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					AACTTCCGAGGGGTACCGGTT	0.557000													11	32					1.58986e-06	1.95437e-06	1	1	0
ARHGAP15	55843	broad.mit.edu	37	2	143986237	143986237	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:143986237G>T	ENST00000409869.1	+	6	561	c.384_splice	c.e6+1	p.M128_splice	ARHGAP15_ENST00000295095.6_Splice_Site_p.M128_splice			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	128	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGTCCAATATGGTAAGTAATT	0.318000													10	35					3.07112e-06	3.73875e-06	1	1	0
IQGAP2	10788	broad.mit.edu	37	5	75923290	75923290	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:75923290A>T	ENST00000274364.6	+	14	1874	c.1577A>T	c.(1576-1578)gAt>gTt	p.D526V	IQGAP2_ENST00000379730.3_Missense_Mutation_p.D85V|IQGAP2_ENST00000502745.1_Missense_Mutation_p.D79V|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D79V	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	526					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CAAGCCGTCGATGATGCCAAC	0.448000													9	54					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156880116	156880116	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:156880116C>T	ENST00000338302.3	+	15	1994	c.1769C>T	c.(1768-1770)cCt>cTt	p.P590L	PEAR1_ENST00000292357.7_Missense_Mutation_p.P590L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	590	EGF-like 7.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCTGTCTCCCTGAGAATGGC	0.642000											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	84	176					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909151	65909151	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:65909151G>A	ENST00000321892.4	+	13	5590	c.5529G>A	c.(5527-5529)aaG>aaA	p.K1843K	BPTF_ENST00000424123.3_Silent_p.K1704K|BPTF_ENST00000335221.5_Silent_p.K1843K|BPTF_ENST00000306378.6_Silent_p.K1717K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1843					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAGCAGCAAGAAGAGCATTT	0.388000													7	100					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158906881	158906881	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:158906881G>T	ENST00000368140.1	+	2	426	c.181G>T	c.(181-183)Ggt>Tgt	p.G61C	PYHIN1_ENST00000368135.4_Missense_Mutation_p.G61C|PYHIN1_ENST00000392252.3_Missense_Mutation_p.G61C|PYHIN1_ENST00000368138.3_Missense_Mutation_p.G61C|PYHIN1_ENST00000392254.2_Missense_Mutation_p.G61C	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	61	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGGTGATGCCGGTTTGGGCAA	0.368000													25	71					6.32553e-13	9.38357e-13	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11411740	11411740	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:11411740T>A	ENST00000304623.8	-	5	536	c.347A>T	c.(346-348)gAg>gTg	p.E116V	CTNND2_ENST00000359640.2_Missense_Mutation_p.E116V|CTNND2_ENST00000503622.1_Missense_Mutation_p.E25V|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.E25V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	116					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGTTGTAAGCTCATCTTCGAT	0.348000													5	88					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81839476	81839476	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:81839476G>A	ENST00000550584.2	-	5	724	c.429C>T	c.(427-429)tgC>tgT	p.C143C	RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000548586.1_Silent_p.C143C|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549325.1_Silent_p.C125C|PPFIA2_ENST00000552948.1_Silent_p.C143C|PPFIA2_ENST00000333447.7_Silent_p.C125C|PPFIA2_ENST00000407050.4_Silent_p.C69C|PPFIA2_ENST00000443686.3_Silent_p.C69C|PPFIA2_ENST00000549396.1_Silent_p.C143C|PPFIA2_ENST00000550359.2_5'UTR	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	69										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTGACACAAGGCACTCCAAAT	0.403000													4	18					0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8419813	8419813	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:8419813C>A	ENST00000379660.4	-	7	1229	c.780_splice	c.e7+1	p.M260_splice	SLC35B3_ENST00000339306.5_Splice_Site_p.M260_splice	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	260					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					GAGTATTTACCATTTCAGAAT	0.313000													30	54					1.61788e-16	2.54617e-16	1	1	0
PPAPDC1A	196051	broad.mit.edu	37	10	122280571	122280571	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:122280571G>A	ENST00000398250.1	+	5	761	c.409G>A	c.(409-411)Gag>Aag	p.E137K	PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.E127K|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.E137K	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	137					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TCTGGTGTCCGAGGGCCGCAA	0.517000													8	63					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132413787	132413787	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:132413787C>G	ENST00000326682.8	-	15	2187	c.2111G>C	c.(2110-2112)aGa>aCa	p.R704T	NPHP3_ENST00000337331.5_Missense_Mutation_p.D732H			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	0					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGATTTTATCTAAATTGCCT	0.373000													6	102					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102912201	102912201	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:102912201G>T	ENST00000359520.7	+	13	3218	c.2992G>T	c.(2992-2994)Gcc>Tcc	p.A998S	TECPR2_ENST00000558678.1_Missense_Mutation_p.A998S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	998							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GACTCTCTGGGCCCTGGACAT	0.537000													7	76					0.00307968	0.00328673	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9119232	9119232	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:9119232C>T	ENST00000382496.5	-	15	2468	c.1803G>A	c.(1801-1803)tgG>tgA	p.W601*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	601	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACCACGAGGTCCAGGGAGTCC	0.652000													11	15					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41930373	41930373	+	Missense_Mutation	SNP	C	C	T	rs148262765	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:41930373C>T	ENST00000317310.4	+	3	514	c.473C>T	c.(472-474)cCa>cTa	p.P158L	CD300LG_ENST00000377203.4_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.P158L|CD300LG_ENST00000293396.8_Intron|CD300LG_ENST00000586233.1_Intron	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	158						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACCCAGCCCCCAGGATTGAGT	0.572000													6	93					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107029670	107029670	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:107029670G>A	ENST00000409886.3	-	22	5223	c.5136C>T	c.(5134-5136)caC>caT	p.H1712H	RGPD3_ENST00000304514.7_Silent_p.H1712H	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1712	GRIP.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CGTTCTTCAAGTGTTCCACGT	0.408000													11	121					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059312	248059312	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:248059312C>A	ENST00000537741.1	+	3	681	c.424C>A	c.(424-426)Cgg>Agg	p.R142R	OR2W3_ENST00000360358.3_Silent_p.R142R			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGGCTCTGCCGGGGCTTGGT	0.622000													36	57					7.11191e-15	1.08948e-14	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599710	136599710	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:136599710C>A	ENST00000531224.1	-	4	561	c.309G>T	c.(307-309)agG>agT	p.R103S	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R101S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R101S|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R103S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R101S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R103S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	103					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTCTAGGACTCCTAGAGTGCC	0.468000													41	188					2.35958e-20	3.93134e-20	1	1	0
TNN	63923	broad.mit.edu	37	1	175048757	175048757	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:175048757G>C	ENST00000239462.4	+	3	811	c.698G>C	c.(697-699)tGt>tCt	p.C233S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	233	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				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)		GAGAAGCGCTGTCCCGGCGAC	0.672000													9	9					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627114	140627114	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140627114C>A	ENST00000231173.3	+	1	1968	c.1968C>A	c.(1966-1968)gcC>gcA	p.A656A		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		656	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCACCGCCACGCTGCAAG	0.697000													12	105					2.80697e-09	3.78013e-09	1	1	0
OTOL1	131149	broad.mit.edu	37	3	161220139	161220139	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:161220139G>T	ENST00000327928.4	+	3	499	c.499G>T	c.(499-501)Gga>Tga	p.G167*		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	167	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGGATACCCAGGAAAACCGGG	0.398000													7	16					5.18039e-06	6.26871e-06	1	1	0
THBS3	7059	broad.mit.edu	37	1	155170353	155170353	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:155170353C>G	ENST00000368378.3	-	14	1617	c.1597G>C	c.(1597-1599)Gat>Cat	p.D533H	THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000428962.2_Intron|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.D413H|THBS3_ENST00000541576.1_5'UTR|THBS3_ENST00000541990.1_Missense_Mutation_p.D62H|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	533					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			CCAAATGAATCTGTATCTGAG	0.537000													10	185					0	0	1	0	0
OCEL1	79629	broad.mit.edu	37	19	17337905	17337905	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:17337905G>C	ENST00000215061.4	+	3	393	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	OCEL1_ENST00000601529.1_Missense_Mutation_p.E117Q|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_Missense_Mutation_p.E61Q	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	117										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						GATTGTGTTTGAGGATGAGTT	0.642000													11	166					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126086157	126086157	+	Silent	SNP	C	C	A	rs146609882		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:126086157C>A	ENST00000358373.3	-	10	3263	c.2700G>T	c.(2698-2700)ccG>ccT	p.P900P	GRM8_ENST00000339582.2_Intron|GRM8_ENST00000444921.2_Intron	NM_001127323.1	NP_001120795.1	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	0					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTTGACCATCGGAAACTCTA	0.448000										HNSCC(24;0.065)			38	104					1.49673e-21	2.52081e-21	1	1	0
SLC27A1	376497	broad.mit.edu	37	19	17615394	17615394	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:17615394C>A	ENST00000252595.7	+	12	2011	c.1914C>A	c.(1912-1914)cgC>cgA	p.R638R	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Silent_p.R638R|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Silent_p.R459R	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	638					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTACACTCGCATCTGCTCGG	0.617000													5	76					0.00116845	0.00126781	1	1	0
ZDHHC15	158866	broad.mit.edu	37	X	74742845	74742845	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:74742845C>A	ENST00000541184.1	-	1	492	c.15G>T	c.(13-15)tgG>tgT	p.W5C	ZDHHC15_ENST00000482827.1_5'UTR|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.W5C|ZDHHC15_ENST00000373367.3_Missense_Mutation_p.W5C	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	5						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GAGCCATCTTCCAGCCTCGCC	0.662000													3	31					0.004672	0.00494163	1	1	0
HPSE2	60495	broad.mit.edu	37	10	100904084	100904084	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:100904084A>G	ENST00000370552.3	-	3	580	c.521T>C	c.(520-522)cTg>cCg	p.L174P	HPSE2_ENST00000370549.1_Missense_Mutation_p.L174P|HPSE2_ENST00000370546.1_Missense_Mutation_p.L174P|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	174					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTGGAGCTCCAGCATAACATC	0.423000													32	77					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169472897	169472897	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:169472897C>T	ENST00000256935.8	+	39	4034	c.3954C>T	c.(3952-3954)ctC>ctT	p.L1318L	DOCK2_ENST00000520908.1_Silent_p.L810L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.L379L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1318	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGAGCTGCTCAGCCAGAACC	0.572000													5	62					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110927505	110927505	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:110927505C>T	ENST00000316534.4	-	5	473	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	NPHP1_ENST00000417665.1_Missense_Mutation_p.E134K|NPHP1_ENST00000393272.3_Missense_Mutation_p.E134K|NPHP1_ENST00000445609.2_Missense_Mutation_p.E134K|NPHP1_ENST00000355301.4_Missense_Mutation_p.E72K			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	134	Glu-rich.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						tctgcatcttcttcctcccca	0.438000													4	53					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764428	92764428	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:92764428T>A	ENST00000318238.4	-	5	2073	c.857A>T	c.(856-858)gAg>gTg	p.E286V	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E286V|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E286V	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	286										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAACCTTGGCTCCCGAATACA	0.368000													28	144					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222196	140222196	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140222196G>T	ENST00000531613.1	+	1	1290	c.1290G>T	c.(1288-1290)ggG>ggT	p.G430G	PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.G430G|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGGACGGGGGCTCGCCTT	0.637000													39	131					4.14481e-20	6.88298e-20	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503499	140503499	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140503499T>C	ENST00000194152.1	+	1	1919	c.1919T>C	c.(1918-1920)gTg>gCg	p.V640A		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		640	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACAGGCTCGTGGTGCTTGTC	0.687000													16	56					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144811493	144811493	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:144811493C>A	ENST00000388913.3	-	3	573	c.447_splice	c.e3-1	p.V150_splice		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	150					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACGGCCACCACCTGCAGGGGC	0.652000													10	47					7.48243e-07	9.29426e-07	1	1	0
GRID2	2895	broad.mit.edu	37	4	94032021	94032021	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:94032021G>C	ENST00000282020.4	+	4	910	c.652G>C	c.(652-654)Gaa>Caa	p.E218Q	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.E123Q	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	218					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CATGAGAATAGAAGAACTGAA	0.408000													22	62					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3778145	3778145	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:3778145C>T	ENST00000262367.5	-	31	7712	c.6903G>A	c.(6901-6903)atG>atA	p.M2301I	CREBBP_ENST00000382070.3_Missense_Mutation_p.M2263I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2301					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTGCTGCTTCATCTGCTGTT	0.647000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						9	90					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64415371	64415371	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:64415371A>G	ENST00000395251.1	+	4	705	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN	zinc finger protein 365	124										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCACCTCCCTATGCAGGAGTT	0.493000													19	59					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169791846	169791846	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:169791846C>G	ENST00000263817.6	-	23	3028	c.2904G>C	c.(2902-2904)gaG>gaC	p.E968D		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	968	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGAAGGGCTTCTCCAGCTCAG	0.448000													9	140					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37390311	37390311	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:37390311G>A	ENST00000338564.5	-	3	548	c.102C>T	c.(100-102)ccC>ccT	p.P34P	MEIS2_ENST00000559561.1_Silent_p.P34P|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000340545.5_Silent_p.P21P|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000557796.2_Silent_p.P21P|MEIS2_ENST00000561208.1_Silent_p.P34P|MEIS2_ENST00000559085.1_Silent_p.P21P|MEIS2_ENST00000444725.1_Silent_p.P34P|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000382766.2_Silent_p.P34P|MEIS2_ENST00000424352.2_Silent_p.P34P	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	34					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGTGAACCGGGGGGATCGGCC	0.677000													5	32					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14208578	14208578	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:14208578G>C	ENST00000308677.4	-	6	740	c.544C>G	c.(544-546)Cag>Gag	p.Q182E	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Missense_Mutation_p.Q174E	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	182	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GTGGGCACCTGAATGTAGCCC	0.617000													11	81					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83031961	83031961	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:83031961G>T	ENST00000307792.3	-	10	1597	c.1130C>A	c.(1129-1131)cCa>cAa	p.P377Q	SEMA3E_ENST00000427262.1_Missense_Mutation_p.P317Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	377	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.P377Q(1)		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)				ACCAGGCCTTGGATAAGGGAC	0.363000													13	44					3.27435e-08	4.28643e-08	1	1	0
ZBTB16	7704	broad.mit.edu	37	11	113934449	113934449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:113934449G>T	ENST00000335953.4	+	2	807	c.427G>T	c.(427-429)Gag>Tag	p.E143*	ZBTB16_ENST00000392996.2_Nonsense_Mutation_p.E143*	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	143					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGGCGGGGCCGAGGAAGAAGA	0.587000													14	24					2.32078e-09	3.14852e-09	1	1	0
TMED1	11018	broad.mit.edu	37	19	10946725	10946725	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:10946725T>A	ENST00000214869.2	-	1	241	c.143A>T	c.(142-144)cAg>cTg	p.Q48L	TMED1_ENST00000591695.1_Missense_Mutation_p.Q48L	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	48	GOLD.				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						CGGCGCGGACTGGTAGAAACA	0.677000													4	6					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70975590	70975590	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:70975590G>T	ENST00000393567.2	-	43	6952	c.6802C>A	c.(6802-6804)Cag>Aag	p.Q2268K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2268										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)				GCGTAATCCTGGGCCATGTTG	0.527000													16	139					5.35356e-11	7.61126e-11	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49669702	49669702	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:49669702G>T	ENST00000561648.1	-	4	3414	c.3361C>A	c.(3361-3363)Cgt>Agt	p.R1121S	ZNF423_ENST00000262383.2_Missense_Mutation_p.R1121S|ZNF423_ENST00000562520.1_Missense_Mutation_p.R1061S|ZNF423_ENST00000535559.1_Missense_Mutation_p.R1004S|ZNF423_ENST00000567169.1_Missense_Mutation_p.R1004S|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1061S|ZNF423_ENST00000562871.1_Missense_Mutation_p.R1061S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1121					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCGGGGCAACGGAGGCCGGCA	0.721000													32	73					3.11337e-16	4.87689e-16	1	1	0
CPSF7	79869	broad.mit.edu	37	11	61183926	61183926	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:61183926C>G	ENST00000340437.4	-	6	825	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	CPSF7_ENST00000448745.1_Missense_Mutation_p.E197Q|CPSF7_ENST00000394888.4_Missense_Mutation_p.E206Q|CPSF7_ENST00000439958.3_Missense_Mutation_p.E197Q	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	206	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ACAAGGTTCTCAGAGGGTGTG	0.562000													11	154					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71146664	71146664	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:71146664C>A	ENST00000355527.3	-	9	1461	c.1185G>T	c.(1183-1185)ctG>ctT	p.L395L	DHCR7_ENST00000407721.2_Silent_p.L395L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	395					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AGCCCGACACCAGCAGCTTGC	0.682000									Smith-Lemli-Opitz syndrome				13	19					9.05144e-12	1.31562e-11	1	1	0
ZMPSTE24	10269	broad.mit.edu	37	1	40734155	40734155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:40734155G>A	ENST00000372759.3	+	4	587	c.422G>A	c.(421-423)tGg>tAg	p.W141*		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	141						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GGTTTGCCATGGAGTCTTTAT	0.328000													33	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179649030	179649030	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:179649030C>T	ENST00000589042.1	-	16	2766	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T	TTN_ENST00000360870.5_Missense_Mutation_p.A848T|TTN_ENST00000359218.5_Missense_Mutation_p.A802T|TTN_ENST00000342992.6_Missense_Mutation_p.A848T|TTN_ENST00000591111.1_Missense_Mutation_p.A848T|TTN_ENST00000460472.2_Missense_Mutation_p.A802T|TTN_ENST00000342175.6_Missense_Mutation_p.A802T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	848							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)			GAAGATGTGGCTGACAACTCT	0.473000													14	54					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182873532	182873532	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:182873532G>C	ENST00000367547.3	-	8	1606	c.1370C>G	c.(1369-1371)tCt>tGt	p.S457C	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.S338C|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	529										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AGAAGGTTCAGAAGTAATCAT	0.378000													19	84					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021448	51021448	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:51021448C>A	ENST00000599957.1	-	3	1719	c.1522G>T	c.(1522-1524)Ggg>Tgg	p.G508W	LRRC4B_ENST00000389201.3_Missense_Mutation_p.G508W			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	508	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TTCTCCGTCCCCCGCGGCTGC	0.716000													4	24					0.000602214	0.000664149	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720633	140720633	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140720633G>T	ENST00000394576.2	+	1	2095	c.2095G>T	c.(2095-2097)Gcg>Tcg	p.A699S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGTGGCCGCGGTCTCCTG	0.662000													21	125					3.6726e-16	5.73951e-16	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746371	77746371	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:77746371C>T	ENST00000409088.3	-	3	1038	c.624G>A	c.(622-624)aaG>aaA	p.K208K	LRRTM4_ENST00000409911.1_Silent_p.K209K|LRRTM4_ENST00000409282.1_Silent_p.K209K|LRRTM4_ENST00000409884.1_Silent_p.K208K|LRRTM4_ENST00000409093.1_Silent_p.K208K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	208						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGTGGAGCTCCTTTAACTTCA	0.428000													9	65					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108868891	108868891	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:108868891C>A	ENST00000329106.2	+	2	243	c.243C>A	c.(241-243)gcC>gcA	p.A81A	SULT1C3_ENST00000376700.1_Silent_p.A81A	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	81						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GCAAAAGAGCCCAGACTCTAG	0.353000													19	32					3.99206e-14	6.05567e-14	1	1	0
HHIPL2	79802	broad.mit.edu	37	1	222717342	222717342	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:222717342G>T	ENST00000343410.6	-	2	569	c.511C>A	c.(511-513)Ctc>Atc	p.L171I		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	171					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGGTCCAGGAGGTGGCAGAAG	0.572000													16	95					3.41278e-10	4.74167e-10	1	1	0
C15orf27	123591	broad.mit.edu	37	15	76430164	76430164	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:76430164T>A	ENST00000388942.3	+	3	431	c.155T>A	c.(154-156)cTg>cAg	p.L52Q		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	52						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GACTTGCCCCTGGCTGCTGTC	0.522000													12	70					0	0	1	0	0
IRX3	79191	broad.mit.edu	37	16	54318964	54318964	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:54318964C>T	ENST00000329734.3	-	2	1541	c.829G>A	c.(829-831)Gat>Aat	p.D277N		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	277					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						AGGTCGCCATCCCTGCGCGCC	0.632000													4	47					0	0	1	0	0
POLR2M	81488	broad.mit.edu	37	15	58004326	58004326	+	Silent	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:58004326G>C	ENST00000299638.3	+	3	1117	c.903G>C	c.(901-903)acG>acC	p.T301T	GCOM1_ENST00000587652.1_Silent_p.T698T|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380569.2_Silent_p.T483T|GCOM1_ENST00000484300.1_3'UTR|POLR2M_ENST00000380563.2_Silent_p.T301T|POLR2M_ENST00000380557.4_Silent_p.T144T	NM_015532.3	NP_056347.1			polymerase (RNA) II (DNA directed) polypeptide M																		ATATGCCCACGCAGCTGCTCT	0.473000													7	42					0	0	1	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14184184	14184184	+	RNA	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:14184184C>T	ENST00000581935.1	+	0	873																				lung(3)	3						TTTGGAAGCTCAACCATTCCC	0.284000													27	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074639	9074639	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:9074639G>T	ENST00000397910.4	-	3	13010	c.12807C>A	c.(12805-12807)tcC>tcA	p.S4269S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4271	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGGCTTTGGATGGCTTTG	0.473000													17	56					1.02788e-11	1.48973e-11	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112720	248112720	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:248112720C>A	ENST00000357191.3	+	1	561	c.561C>A	c.(559-561)gcC>gcA	p.A187A	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGACTCTGGCCTGCATGGACA	0.473000													31	58					1.71298e-08	2.26897e-08	1	1	0
DPY19L1	23333	broad.mit.edu	37	7	34977696	34977696	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:34977696C>T	ENST00000310974.4	-	21	1925	c.1781G>A	c.(1780-1782)cGg>cAg	p.R594Q		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	594						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GGCTGCTTTCCGACTATACAT	0.328000													8	46					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70713502	70713502	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:70713502C>T	ENST00000226444.3	-	6	617	c.505G>A	c.(505-507)Ggt>Agt	p.G169S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	169					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TACCAGGAACCATAAGGAACT	0.358000													6	65					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213203	9213203	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:9213203G>T	ENST00000305456.2	-	1	779	c.780C>A	c.(778-780)tcC>tcA	p.S260S		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						ACCCACAGGTGGAAACTGCTT	0.473000													19	77					6.94344e-10	9.52892e-10	1	1	0
ISPD	729920	broad.mit.edu	37	7	16341047	16341047	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:16341047C>A	ENST00000407010.2	-	5	833	c.835_splice	c.e5+1	p.K278_splice	ISPD_ENST00000399310.3_Splice_Site_p.K228_splice|ISPD_ENST00000479493.1_5'UTR	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	278					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CAAACATACCCTTAATAATCG	0.403000										Multiple Myeloma(15;0.18)			5	15					0.00116845	0.00126781	1	1	0
TIGD7	91151	broad.mit.edu	37	16	3349789	3349789	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:3349789G>C	ENST00000396862.1	-	2	2654	c.826C>G	c.(826-828)Cat>Gat	p.H276D	TIGD7_ENST00000268674.2_Missense_Mutation_p.H276D	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	276	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AGTTGAAAATGTCGGACCTCa	0.408000													19	127					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12874186	12874186	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:12874186G>A	ENST00000264827.5	-	22	2234	c.2064C>T	c.(2062-2064)ttC>ttT	p.F688F	HOOK2_ENST00000397668.3_Silent_p.F690F	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	690	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GCTGTGCCAGGAATGACTGGG	0.642000													39	60					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64421811	64421811	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:64421811C>T	ENST00000262043.3	+	16	4667	c.4327C>T	c.(4327-4329)Ctt>Ttt	p.L1443F	PHF3_ENST00000393387.1_Missense_Mutation_p.L1443F			Q92576	PHF3_HUMAN	PHD finger protein 3	1443					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTTAAGATTTCTTCCTGGCGT	0.428000													35	60					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35403857	35403857	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:35403857G>T	ENST00000378495.3	+	39	4825	c.4603G>T	c.(4603-4605)Gat>Tat	p.D1535Y	UNC13B_ENST00000396787.1_Missense_Mutation_p.D1566Y|UNC13B_ENST00000378496.4_Missense_Mutation_p.D1554Y	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1535					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCCTCTGAGGGATGTCACAGC	0.572000													12	51					2.27111e-07	2.87417e-07	1	1	0
GPR180	160897	broad.mit.edu	37	13	95271476	95271476	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:95271476G>T	ENST00000376958.4	+	4	603	c.578G>T	c.(577-579)tGg>tTg	p.W193L		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	193						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CAATCATTGTGGCAGGCTATT	0.403000													24	161					2.39556e-15	3.70073e-15	1	1	0
TCN1	6947	broad.mit.edu	37	11	59630138	59630138	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:59630138C>T	ENST00000257264.3	-	3	421	c.317G>A	c.(316-318)cGt>cAt	p.R106H	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	106					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCAGCGTTACGACATACTCC	0.358000													15	104					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323303	152323303	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:152323303G>T	ENST00000388718.5	-	3	7031	c.6959C>A	c.(6958-6960)tCc>tAc	p.S2320Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2320							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTAGATCTGGAACCTGTCTG	0.463000													93	319					2.36867e-37	4.15961e-37	1	1	0
PAK7	57144	broad.mit.edu	37	20	9543577	9543577	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:9543577A>G	ENST00000378429.3	-	7	2123	c.1577T>C	c.(1576-1578)cTa>cCa	p.L526P	PAK7_ENST00000353224.5_Missense_Mutation_p.L526P|PAK7_ENST00000378423.1_Missense_Mutation_p.L526P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	526	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACCACCTTCTAGAAACTCCAT	0.493000													20	124					0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638662	65638662	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:65638662T>A	ENST00000307998.6	-	4	563	c.333A>T	c.(331-333)ccA>ccT	p.P111P	EFEMP2_ENST00000528176.1_Silent_p.P111P	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	111				AQHPNPCPP -> VNTQPLPT (in Ref. 2; AAC62108).	blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCTCATAGCCTGGTGGGCAGG	0.647000													9	57					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50850585	50850585	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:50850585G>T	ENST00000404971.1	-	7	2439	c.1100C>A	c.(1099-1101)gCc>gAc	p.A367D	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.A334D|NRXN1_ENST00000406316.2_Missense_Mutation_p.A334D|NRXN1_ENST00000402717.3_Missense_Mutation_p.A334D|NRXN1_ENST00000405472.3_Missense_Mutation_p.A334D|NRXN1_ENST00000406859.3_Missense_Mutation_p.A334D	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	334	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATTTTTCAGGGCAAGATTGAC	0.428000													36	104					9.8876e-21	1.65422e-20	1	1	0
GAL3ST1	9514	broad.mit.edu	37	22	30951977	30951977	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:30951977C>A	ENST00000402321.1	-	3	552	c.235G>T	c.(235-237)Gtg>Ttg	p.V79L	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.V79L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.V79L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.V79L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.V79L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.V79L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.V79L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	79					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TTCAAGAACACGATGTTGCGC	0.667000													12	71					0.010729	0.0112071	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159283846	159283846	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:159283846C>A	ENST00000332217.5	-	1	603	c.604G>T	c.(604-606)Gtt>Ttt	p.V202F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ACGCTGACAACAAAGTTGATT	0.468000													25	135					6.36457e-07	7.95473e-07	1	1	0
GYPA	2993	broad.mit.edu	37	4	145040914	145040914	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:145040914A>G	ENST00000360771.4	-	3	272	c.157T>C	c.(157-159)Tat>Cat	p.Y53H	GYPA_ENST00000512064.1_Missense_Mutation_p.Y53H|GYPA_ENST00000504786.1_Intron|GYPA_ENST00000324022.10_Missense_Mutation_p.Y20H|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000503627.1_Intron|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000512789.1_Intron|GYPA_ENST00000535709.1_Missense_Mutation_p.Y27H	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	53					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GTGGCTGCATATGTGTCCCGT	0.413000													6	54					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115336130	115336130	+	Splice_Site	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:115336130G>A	ENST00000357872.4	+	8	1640	c.1515_splice	c.e8-1	p.G506_splice	AQPEP_ENST00000395528.2_Splice_Site_p.G23_splice	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		506					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TTTGTCCTAGGGAGCGTCTAT	0.398000													22	64					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160455534	160455534	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:160455534T>G	ENST00000356956.1	+	10	1443	c.1295T>G	c.(1294-1296)tTt>tGt	p.F432C		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	432					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)		GTCATAAACTTTGAGTGCAAT	0.468000													19	44					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166616015	166616015	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:166616015C>G	ENST00000392701.3	-	5	1679	c.904G>C	c.(904-906)Gta>Cta	p.V302L	GALNT3_ENST00000409882.1_Missense_Mutation_p.V40L	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	302					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TCTGGACTTACGACAGCCGTG	0.398000													9	38					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13867922	13867922	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:13867922G>A	ENST00000265104.4	-	25	4118	c.4014C>T	c.(4012-4014)ttC>ttT	p.F1338F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1338	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F1338F(1)		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)					AATCTTGGAGGAATACCTCCA	0.453000									Kartagener syndrome				15	160					0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220404194	220404194	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:220404194G>A	ENST00000243776.6	-	4	2487	c.2239C>T	c.(2239-2241)Cgc>Tgc	p.R747C	CHPF_ENST00000535926.1_Missense_Mutation_p.R585C	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	747						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGAGGCAGCGGTGGTACAGG	0.667000													9	26					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495211	161495211	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:161495211C>A	ENST00000309758.4	+	1	1176	c.763C>A	c.(763-765)Ctg>Atg	p.L255M		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	255					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGGAAGGACCTGAGCGGGAA	0.627000													7	8					0.00307968	0.00328673	1	1	0
INPP5D	3635	broad.mit.edu	37	2	234106825	234106825	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:234106825C>A	ENST00000359570.5	+	27	2742	c.2742C>A	c.(2740-2742)ccC>ccA	p.P914P	INPP5D_ENST00000455936.2_Silent_p.P678P|INPP5D_ENST00000450745.1_Silent_p.P678P			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	926					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CACCAATGCCCCTGCACGTGA	0.642000													9	28					0.00448238	0.00477868	1	1	0
AFF2	2334	broad.mit.edu	37	X	148037902	148037902	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:148037902C>A	ENST00000370460.2	+	11	2806	c.2327C>A	c.(2326-2328)cCa>cAa	p.P776Q	AFF2_ENST00000342251.3_Missense_Mutation_p.P743Q|AFF2_ENST00000370457.5_Missense_Mutation_p.P743Q|AFF2_ENST00000286437.5_Missense_Mutation_p.P417Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	776					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGAAGAGCCAACATTTTCA	0.458000													33	30					3.90053e-15	6.00264e-15	1	1	0
RGS4	5999	broad.mit.edu	37	1	163043367	163043367	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:163043367C>A	ENST00000421743.2	+	5	784	c.624C>A	c.(622-624)gcC>gcA	p.A208A	RGS4_ENST00000367908.4_Intron|RGS4_ENST00000367906.3_Silent_p.A93A|RGS4_ENST00000367909.6_Silent_p.A111A|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000527809.1_Silent_p.A93A	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	111					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GTCCCAAGGCCAAAAAGATCT	0.348000													15	65					4.7546e-09	6.37743e-09	1	1	0
MCHR2	84539	broad.mit.edu	37	6	100369120	100369120	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:100369120C>A	ENST00000281806.2	-	6	1033	c.719G>T	c.(718-720)aGt>aTt	p.S240I	MCHR2_ENST00000445970.1_Missense_Mutation_p.S240I|MCHR2_ENST00000369212.1_Missense_Mutation_p.S240I	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	240						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTTGGTACACTGGGATTGCA	0.438000													14	69					0.000219431	0.000247274	1	1	0
EML3	256364	broad.mit.edu	37	11	62375729	62375729	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:62375729C>T	ENST00000394773.2	-	10	1457	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	EML3_ENST00000494176.2_Missense_Mutation_p.E356K|EML3_ENST00000529309.1_Missense_Mutation_p.E384K|EML3_ENST00000531557.1_Missense_Mutation_p.E167K|EML3_ENST00000278845.4_Missense_Mutation_p.E385K	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	384						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGCATGTGCTCATTGGAATCA	0.567000													26	203					0	0	1	0	0
GNRH1	2796	broad.mit.edu	37	8	25280740	25280740	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:25280740C>G	ENST00000276414.4	-	1	1430	c.107G>C	c.(106-108)aGa>aCa	p.R36T	GNRH1_ENST00000421054.2_Missense_Mutation_p.R36T	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	36					cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		TTCGGCATCTCTCTTTCCTCC	0.413000													9	84					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829160	115829160	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:115829160C>A	ENST00000369512.2	-	3	425	c.257G>T	c.(256-258)cGt>cTt	p.R86L	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	86					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	AAACAGCACACGGGGTGAACG	0.632000													5	39					0.014758	0.0152889	1	1	0
KATNA1	11104	broad.mit.edu	37	6	149916239	149916239	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:149916239G>C	ENST00000367411.2	-	11	1667	c.1409C>G	c.(1408-1410)tCt>tGt	p.S470C	KATNA1_ENST00000335643.8_3'UTR|KATNA1_ENST00000335647.5_Missense_Mutation_p.S470C	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	470					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CACTGACTTAGAAACCTTTTT	0.378000													5	63					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149241147	149241147	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:149241147A>T	ENST00000404807.1	+	5	3116	c.2987A>T	c.(2986-2988)cAa>cTa	p.Q996L	MBD5_ENST00000407073.1_Intron			Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	995						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CTTCAGAACCAAGCCCAAGCA	0.478000													3	8					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272705	52272705	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:52272705C>T	ENST00000598776.1	+	2	1566	c.794C>T	c.(793-795)aCc>aTc	p.T265I	FPR2_ENST00000340023.6_Missense_Mutation_p.T265I|FPR2_ENST00000598953.1_Missense_Mutation_p.T265I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	265					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTTCTGGGCACCGTCTGGCTC	0.502000													6	84					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143998477	143998477	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:143998477C>T	ENST00000323110.2	-	2	395	c.393G>A	c.(391-393)ttG>ttA	p.L131L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	131					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CCGCTTACAACAAGAACACGC	0.602000									Familial Hyperaldosteronism type I				15	34					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111964210	111964210	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:111964210G>C	ENST00000369732.3	-	7	749	c.694C>G	c.(694-696)Ctg>Gtg	p.L232V	OVGP1_ENST00000540696.1_Intron|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	232					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TCTTCAGGCAGAGAGAAGAGG	0.488000													6	85					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922303	24922303	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:24922303C>A	ENST00000329468.2	+	1	1763	c.1289C>A	c.(1288-1290)gCt>gAt	p.A430D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTGACTTGGCTGACCTGGCT	0.542000													19	74					5.03518e-11	7.18396e-11	1	1	0
KCTD8	386617	broad.mit.edu	37	4	44177089	44177089	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:44177089T>A	ENST00000360029.3	-	2	1423	c.1140A>T	c.(1138-1140)acA>acT	p.T380T		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	380						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T380T(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GTTGGTGAGCTGTTGCCTGCT	0.502000										HNSCC(17;0.042)			21	105					0	0	1	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804607	21804607	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:21804607C>A	ENST00000449193.2	-	4	4397	c.2145G>T	c.(2143-2145)aaG>aaT	p.K715N	SKIDA1_ENST00000444772.3_Missense_Mutation_p.K636N	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		AAAACTCACCCTTTGTATCAT	0.388000													60	272					9.59449e-18	1.54123e-17	1	1	0
MS4A6A	64231	broad.mit.edu	37	11	59942901	59942901	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:59942901A>T	ENST00000528851.1	-	5	663	c.523T>A	c.(523-525)Tgc>Agc	p.C175S	MS4A6A_ENST00000420732.2_Intron|MS4A6A_ENST00000412309.2_Missense_Mutation_p.C203S|MS4A6A_ENST00000530839.1_Missense_Mutation_p.C175S|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529054.1_Missense_Mutation_p.C203S|MS4A6A_ENST00000323961.3_Missense_Mutation_p.C175S|MS4A6A_ENST00000426738.2_Missense_Mutation_p.C130S			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	175						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTGTATAGCAGTCCGTGGTA	0.353000													13	24					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179603636	179603636	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:179603636C>A	ENST00000444136.1	+	8	1421	c.1171C>A	c.(1171-1173)Cca>Aca	p.P391T	TDRD5_ENST00000367614.1_Missense_Mutation_p.P391T|TDRD5_ENST00000294848.8_Missense_Mutation_p.P391T	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	391					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTCTCCAGTCCACCTAGAAA	0.398000													28	113					7.01153e-11	9.91252e-11	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20432688	20432688	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:20432688G>T	ENST00000331849.4	+	5	879	c.732G>T	c.(730-732)caG>caT	p.Q244H		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	244					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AGCACTCCCAGAGCAGCTACG	0.582000													5	40					0.000602214	0.000664149	1	1	0
NEB	4703	broad.mit.edu	37	2	152518729	152518729	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:152518729G>T	ENST00000397345.3	-	46	6092	c.5890C>A	c.(5890-5892)Cca>Aca	p.P1964T	NEB_ENST00000409198.1_Missense_Mutation_p.P1964T|NEB_ENST00000172853.10_Missense_Mutation_p.P1964T|NEB_ENST00000604864.1_Missense_Mutation_p.P1964T|NEB_ENST00000427231.2_Missense_Mutation_p.P1964T|NEB_ENST00000603639.1_Missense_Mutation_p.P1964T	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1964					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAAGTGTCTGGGTGCTGGCGG	0.433000													19	58					3.32936e-07	4.18714e-07	1	1	0
LOXL3	84695	broad.mit.edu	37	2	74763994	74763994	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:74763994C>T	ENST00000264094.3	-	5	825	c.754G>A	c.(754-756)Gag>Aag	p.E252K	LOXL3_ENST00000409549.1_Missense_Mutation_p.E252K|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409249.1_Missense_Mutation_p.E252K	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	252	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGGTGGGCCTCCGTGCCCACG	0.637000													4	56					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101606720	101606720	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:101606720C>A	ENST00000370449.4	+	30	4262	c.4149C>A	c.(4147-4149)gaC>gaA	p.D1383E		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1383	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACTTGCAGGACCCCATCCTGT	0.542000													67	340					1.38705e-31	2.4106e-31	1	1	0
ZBP1	81030	broad.mit.edu	37	20	56188268	56188268	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:56188268C>G	ENST00000340462.4	-	4	832	c.552G>C	c.(550-552)caG>caC	p.Q184H	ZBP1_ENST00000371173.3_Missense_Mutation_p.Q207H|ZBP1_ENST00000343535.4_Missense_Mutation_p.Q207H|ZBP1_ENST00000395822.3_Missense_Mutation_p.Q132H|ZBP1_ENST00000541799.1_Missense_Mutation_p.Q207H			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	207						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CGTGTCCAATCTGGATGGCTT	0.527000													6	112					0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40739787	40739787	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:40739787G>A	ENST00000392038.2	-	14	1736	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	AKT2_ENST00000424901.1_Missense_Mutation_p.R480C|AKT2_ENST00000311278.6_Missense_Mutation_p.R437C	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	480	AGC-kinase C-terminal.			SIRE -> FREEKDLLMSLFVSLILFSDFSSLKSHSFSSNF ILLSFSSLKK (in Ref. 1; AAA36585).	insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GCTCACTCGCGGATGCTGGCC	0.597000			A		"""ovarian, pancreatic """								6	52					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160097452	160097452	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:160097452G>A	ENST00000361216.3	+	8	948	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	ATP1A2_ENST00000392233.3_Missense_Mutation_p.E287K|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	287					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AATGGAGATTGAACACTTCAT	0.587000													8	174					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086397	55086397	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:55086397C>A	ENST00000251377.3	+	5	685	c.552C>A	c.(550-552)ccC>ccA	p.P184P	LILRA2_ENST00000391738.3_Silent_p.P184P|LILRA2_ENST00000251376.3_Silent_p.P184P|LILRA2_ENST00000391737.1_Silent_p.P172P|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCGTGGGCCCCGTGAGCCCGA	0.577000													48	135					3.05275e-18	4.93531e-18	1	1	0
ATM	472	broad.mit.edu	37	11	108115618	108115618	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:108115618G>C	ENST00000278616.4	+	7	1151	c.766G>C	c.(766-768)Gat>Cat	p.D256H	ATM_ENST00000452508.2_Missense_Mutation_p.D256H	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	256					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGAATTAGGAGATGAAATTCT	0.328000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			5	94					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47833931	47833931	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:47833931G>A	ENST00000378460.2	-	16	2049	c.2003C>T	c.(2002-2004)cCa>cTa	p.P668L	NUP160_ENST00000528071.1_Missense_Mutation_p.P554L|NUP160_ENST00000530326.1_Missense_Mutation_p.P554L|NUP160_ENST00000528501.1_Missense_Mutation_p.P232L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	668					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGCATGGATTGGGTTCCTAAT	0.358000													11	88					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067754	190067754	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:190067754C>A	ENST00000367462.3	-	8	1926	c.1695G>T	c.(1693-1695)ttG>ttT	p.L565F	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L463F	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		565						extracellular region		p.L565_E566>F*(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)					ACACTGGCTCCAAGGTGCTGT	0.463000													31	122					5.60225e-13	8.32287e-13	1	1	0
GCC2	9648	broad.mit.edu	37	2	109087236	109087236	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:109087236G>T	ENST00000309863.6	+	6	2165	c.1451G>T	c.(1450-1452)cGa>cTa	p.R484L		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	484					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGAGTTTACGAGAGATTATG	0.338000													16	55					1.99824e-07	2.55288e-07	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20619215	20619215	+	Silent	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:20619215T>G	ENST00000504154.1	+	36	4542	c.4290T>G	c.(4288-4290)ggT>ggG	p.G1430G	SLIT2_ENST00000503837.1_Silent_p.G1426G|SLIT2_ENST00000273739.5_Silent_p.G1443G|SLIT2_ENST00000503823.1_Silent_p.G1422G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1430					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						GGCTTTCAGGTCTGGGGCAGC	0.567000													4	32					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040349	31040349	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:31040349G>T	ENST00000355537.3	+	4	3970	c.3823G>T	c.(3823-3825)Ggc>Tgc	p.G1275C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGTTCTGATGGCTTAGCAGC	0.547000													37	38					6.19805e-25	1.06252e-24	1	1	0
IGF1R	3480	broad.mit.edu	37	15	99459974	99459974	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:99459974G>A	ENST00000268035.6	+	10	2681	c.2070G>A	c.(2068-2070)gaG>gaA	p.E690E	IGF1R_ENST00000558762.1_Silent_p.E690E	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	690					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCAAGACTGAGGTGTGTGGTG	0.532000													17	37					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87638250	87638250	+	Silent	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:87638250A>G	ENST00000320005.5	-	13	1586	c.1539T>C	c.(1537-1539)gaT>gaC	p.D513D		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	513			D -> Y (in ACHM3; uncertain pathogenicity).		signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGAAGTTCACATCAATGGCGA	0.388000													5	48					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47947761	47947761	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:47947761G>T	ENST00000289672.2	-	9	1365	c.1315C>A	c.(1315-1317)Cat>Aat	p.H439N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	439					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						ACGGCCTCATGGCCAATCTCC	0.438000													13	44					0.000151284	0.000171632	1	1	0
IGLV3-27	28791	broad.mit.edu	37	22	23011178	23011178	+	RNA	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:23011178T>G	ENST00000390304.2	+	0	279																											TGAGCGATTCTCCGGCTCCAG	0.552000													4	61					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55193573	55193573	+	Missense_Mutation	SNP	G	G	T	rs17849362		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:55193573G>T	ENST00000337714.3	+	7	2616	c.2383G>T	c.(2383-2385)Gac>Tac	p.D795Y	AKAP1_ENST00000539273.1_Missense_Mutation_p.D795Y|AKAP1_ENST00000571629.1_Missense_Mutation_p.D795Y|AKAP1_ENST00000572557.1_Missense_Mutation_p.D795Y	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	795	Tudor.			D -> H (in Ref. 5; AAH00729).	blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCGATACGTGGACTACGGCGG	0.607000													26	84					1.5548e-18	2.5217e-18	1	1	0
KCNK13	56659	broad.mit.edu	37	14	90651206	90651206	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:90651206C>T	ENST00000282146.4	+	2	1527	c.1086C>T	c.(1084-1086)atC>atT	p.I362I		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	362						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)				CGTTGGCCATCCTGCAGAAGC	0.622000													9	53					0	0	1	0	0
WDR5	11091	broad.mit.edu	37	9	137005059	137005059	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:137005059G>T	ENST00000358625.3	+	2	231	c.60G>T	c.(58-60)tcG>tcT	p.S20S	WDR5_ENST00000425041.1_Silent_p.S20S	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	20					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		CAACCCCTTCGTCATCCGCCA	0.622000													6	34					1.12685e-05	1.34422e-05	1	1	0
ADAM7	8756	broad.mit.edu	37	8	24357726	24357726	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:24357726A>T	ENST00000175238.6	+	18	2042	c.1959A>T	c.(1957-1959)gaA>gaT	p.E653D	ADAM7_ENST00000520720.1_Missense_Mutation_p.E425D|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.E653D|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	653	Cys-rich.				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)		ACTGTGAGGAAGGACAGGCAC	0.428000													3	23					0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11868106	11868106	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:11868106T>C	ENST00000396516.2	-	8	1086	c.889A>G	c.(889-891)Aat>Gat	p.N297D	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.N297D			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	297						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						ACAGTTTCATTAGTTTCAGGT	0.353000													18	40					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62979214	62979214	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:62979214T>C	ENST00000251157.5	-	33	4216	c.4183A>G	c.(4183-4185)Aag>Gag	p.K1395E	DOCK7_ENST00000340370.5_Missense_Mutation_p.K1364E	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1395					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TCTTCAAGCTTTGCTCTCATG	0.433000													4	64					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65026921	65026921	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:65026921C>A	ENST00000394156.3	-	5	993	c.540G>T	c.(538-540)caG>caT	p.Q180H	CDH11_ENST00000268603.4_Missense_Mutation_p.Q180H|CDH11_ENST00000566827.1_Missense_Mutation_p.Q54H			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	180	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AAGCTGTCACCTGGATTACTG	0.363000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			20	68					2.4624e-09	3.33167e-09	1	1	0
OR5B2	390190	broad.mit.edu	37	11	58190267	58190267	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:58190267G>A	ENST00000302581.2	-	1	519	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCCCAATGTGGAATGAGGCAT	0.488000													5	78					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14399012	14399012	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:14399012C>G	ENST00000344204.4	+	30	4471	c.4447C>G	c.(4447-4449)Cag>Gag	p.Q1483E	TRIO_ENST00000509967.2_Missense_Mutation_p.Q1434E|TRIO_ENST00000537187.1_Missense_Mutation_p.Q1483E	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1483	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CATTGAGTCTCAGGGAGAACT	0.373000													10	175					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	100974952	100974952	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:100974952C>A	ENST00000360863.6	-	26	3947	c.3753G>T	c.(3751-3753)atG>atT	p.M1251I	RGS22_ENST00000523437.1_Missense_Mutation_p.M1239I|RGS22_ENST00000523287.1_Missense_Mutation_p.M1070I	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1251					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTTTCAAAGACATAGTTGAAG	0.368000													30	46					8.4185e-14	1.27224e-13	1	1	0
OR2Z1	284383	broad.mit.edu	37	19	8841781	8841781	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:8841781C>A	ENST00000324060.2	+	1	466	c.391C>A	c.(391-393)Cag>Aag	p.Q131K		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGCCCCTGCAGTATCCTGT	0.542000													6	117					3.59834e-05	4.18836e-05	1	1	0
PDIA4	9601	broad.mit.edu	37	7	148702342	148702342	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:148702342C>A	ENST00000286091.4	-	9	1645	c.1413G>T	c.(1411-1413)ggG>ggT	p.G471G		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	471					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGACATCCTCCCCACTCTCGC	0.577000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	139					2.79863e-10	3.89644e-10	1	1	0
AP3M2	10947	broad.mit.edu	37	8	42012422	42012422	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:42012422G>A	ENST00000518421.1	+	3	508	c.217G>A	c.(217-219)Gag>Aag	p.E73K	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Missense_Mutation_p.E73K|AP3M2_ENST00000396926.3_Missense_Mutation_p.E73K|AP3M2_ENST00000517922.1_Missense_Mutation_p.E73K	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	73					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GATCCAGACGGAGGTCCCCCC	0.468000													7	51					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25875926	25875926	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:25875926C>G	ENST00000463407.1	+	1	158	c.15C>G	c.(13-15)ttC>ttG	p.F5L	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.F5L|NUPL1_ENST00000381736.3_Missense_Mutation_p.F5L			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	5					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCACAGGGTTCTCCTTCGGGT	0.672000													7	14					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113866357	113866357	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:113866357T>A	ENST00000383673.2	-	4	861	c.431A>T	c.(430-432)cAg>cTg	p.Q144L	DRD3_ENST00000295881.7_Missense_Mutation_p.Q144L|DRD3_ENST00000467632.1_Missense_Mutation_p.Q144L|DRD3_ENST00000460779.1_Missense_Mutation_p.Q144L	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	144					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	ACAGGAGCTCTGTCCCGTGCC	0.562000													27	57					0	0	1	0	0
TNFRSF9	3604	broad.mit.edu	37	1	8000021	8000021	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:8000021G>C	ENST00000377507.3	-	2	200	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	12					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGCAACAGAGTGGCTACT	0.428000													4	55					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46489460	46489460	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:46489460C>T	ENST00000361297.2	+	15	1871	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	MAST2_ENST00000372008.1_Missense_Mutation_p.R415W|MAST2_ENST00000372009.2_Missense_Mutation_p.R460W	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	530	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ATTTCTGGTGCGGCACAAGTC	0.572000													4	28					0	0	1	0	0
KCTD13	253980	broad.mit.edu	37	16	29934567	29934567	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:29934567C>T	ENST00000568000.1	-	2	1359	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	KCTD13_ENST00000568721.1_5'UTR|KCTD13_ENST00000561540.1_Missense_Mutation_p.E120K	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	120					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						TAGCGTGCTTCGCCCAGCAGC	0.617000													8	36					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680130	181680130	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:181680130G>T	ENST00000526775.1	+	8	1261	c.1096G>T	c.(1096-1098)Gct>Tct	p.A366S	CACNA1E_ENST00000357570.5_Missense_Mutation_p.A317S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A317S|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A366S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A366S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A366S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	366					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAACCGAAGGGCTTTCATGAA	0.552000													22	77					5.45024e-15	8.38115e-15	1	1	0
FAM174A	345757	broad.mit.edu	37	5	99871248	99871248	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:99871248A>C	ENST00000312637.4	+	1	240	c.14A>C	c.(13-15)cAg>cCg	p.Q5P		NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	5						integral to membrane				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAGGCCTCGCAGTGCTGCTGC	0.667000													13	49					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212886	55212886	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:55212886G>C	ENST00000447346.2	+	15	2298	c.2233G>C	c.(2233-2235)Gtg>Ctg	p.V745L	IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.V603L|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000359040.5_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	713					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GAAAAATTCAGTGACAGCCAG	0.478000													6	72					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111927113	111927113	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:111927113G>T	ENST00000421043.1	+	2	297	c.277G>T	c.(277-279)Gtt>Ttt	p.V93F	ZNF277_ENST00000361822.3_Missense_Mutation_p.V93F|ZNF277_ENST00000450657.1_Missense_Mutation_p.V93F			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	93						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TGTCAAGTTGGTTGCTGATTT	0.378000													54	89					1.4374e-25	2.47463e-25	1	1	0
MRPS36	92259	broad.mit.edu	37	5	68524191	68524191	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:68524191C>G	ENST00000256441.4	+	3	341	c.271C>G	c.(271-273)Caa>Gaa	p.Q91E	MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000512880.1_Missense_Mutation_p.Q26E|MRPS36_ENST00000602380.1_Missense_Mutation_p.Q26E	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	91					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		ACTTGTGTCTCAAGAAGAAAT	0.378000													6	129					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102706859	102706859	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:102706859G>T	ENST00000238961.3	+	14	3146	c.2998G>T	c.(2998-3000)Gta>Tta	p.V1000L	FAM178A_ENST00000370269.3_Missense_Mutation_p.V1000L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	1000																	CCTGTGGTTGGTACAGCTGGT	0.363000													27	92					2.48779e-11	3.57476e-11	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13597517	13597517	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:13597517C>T	ENST00000040738.5	-	12	8206	c.8071G>A	c.(8071-8073)Gaa>Aaa	p.E2691K		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2691							DNA binding										CACAGACTTTCTGGTGGTGCC	0.388000													17	149					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12322098	12322098	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:12322098C>G	ENST00000358136.3	+	13	1685	c.1555C>G	c.(1555-1557)Caa>Gaa	p.Q519E	VPS13D_ENST00000356315.4_Missense_Mutation_p.Q519E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	519					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGGAACTCCTCAAATGAATGA	0.473000													9	61					0	0	1	0	0
MLLT4-AS1	653483	broad.mit.edu	37	6	168227253	168227253	+	RNA	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:168227253C>T	ENST00000359760.5	-	0	136					NR_027906.1																						GACTCTGCACCGCGCGTCCGG	0.662000													4	48					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27832703	27832703	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:27832703G>T	ENST00000396319.2	+	10	1370	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.E271*|TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.E428*|TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.E428*|TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.E428*	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	428					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TGATACACTGGAACACGAACT	0.348000													15	50					7.93312e-07	9.81778e-07	1	1	0
KIN	22944	broad.mit.edu	37	10	7805721	7805721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:7805721C>A	ENST00000379562.3	-	10	930	c.883G>T	c.(883-885)Gga>Tga	p.G295*	KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Nonsense_Mutation_p.G295*|KIN_ENST00000543003.1_Nonsense_Mutation_p.G189*			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	295	C-terminal subdomain A.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TATTTCTCTCCCAGTTTCTTG	0.303000													8	39					3.09899e-07	3.89985e-07	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99753634	99753634	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:99753634C>A	ENST00000370185.3	+	2	833	c.336C>A	c.(334-336)taC>taA	p.Y112*	LPPR4_ENST00000457765.1_Nonsense_Mutation_p.Y112*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		112							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCATGCCGTACATTGAACCAA	0.458000													20	98					8.00594e-06	9.63581e-06	1	1	0
USH2A	7399	broad.mit.edu	37	1	216166452	216166452	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:216166452C>A	ENST00000366943.2	-	35	7101	c.6715G>T	c.(6715-6717)Gac>Tac	p.D2239Y	USH2A_ENST00000307340.3_Missense_Mutation_p.D2239Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2239					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCGGGTATGTCCTCGTCAGTT	0.517000										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	167					0.014323	0.0149535	1	1	0
ATF7IP	55729	broad.mit.edu	37	12	14619498	14619498	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:14619498A>T	ENST00000544627.1	+	10	3180	c.2860A>T	c.(2860-2862)Aag>Tag	p.K954*	ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.K946*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.K945*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.K946*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.K945*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	946					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						TTCTGTCAGTAAGAAAGCAGC	0.299000													9	75					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27094352	27094352	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:27094352G>T	ENST00000324856.7	+	11	3431	c.3060G>T	c.(3058-3060)agG>agT	p.R1020S	ARID1A_ENST00000374152.2_Missense_Mutation_p.R637S|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1020S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1020	ARID.		R -> K (found in a clear cell renal carcinoma; somatic mutation).		androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCCTGAGAGGAAGATGTGGG	0.498000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								22	70					1.50039e-11	2.1652e-11	1	1	0
CACNA2D4	93589	broad.mit.edu	37	12	1993990	1993990	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:1993990C>A	ENST00000382722.5	-	11	1578	c.1216G>T	c.(1216-1218)Ggc>Tgc	p.G406C	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G406C|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.G322C|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G342C|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G342C|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G406C	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	406	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCCACGGCGCCGTCGCTGATG	0.577000													13	27					0.00010058	0.000114624	1	1	0
MSH4	4438	broad.mit.edu	37	1	76262741	76262741	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:76262741G>T	ENST00000263187.3	+	1	175	c.71G>T	c.(70-72)cGc>cTc	p.R24L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	24					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						GGAGAAACCCGCTCACCTCAG	0.617000								Mismatch excision repair (MMR)					4	46					1	1	1	1	0
UBR2	23304	broad.mit.edu	37	6	42656060	42656060	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:42656060G>A	ENST00000372899.1	+	45	5218	c.4960G>A	c.(4960-4962)Gag>Aag	p.E1654K	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.E1654K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1654					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACTGGAAGGGGAGGATGTAGG	0.552000													12	239					0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13243746	13243746	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:13243746G>T	ENST00000337630.6	-	2	83	c.16C>A	c.(16-18)Ctc>Atc	p.L6I	GSG1_ENST00000324458.8_Missense_Mutation_p.L19I|GSG1_ENST00000396302.3_Missense_Mutation_p.L6I|GSG1_ENST00000396310.2_Missense_Mutation_p.L3I|GSG1_ENST00000351606.6_Missense_Mutation_p.L19I|GSG1_ENST00000537302.1_Missense_Mutation_p.L6I|GSG1_ENST00000457134.2_Missense_Mutation_p.L6I|GSG1_ENST00000432710.2_Missense_Mutation_p.L19I	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	6						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCCTTCGAGAGCTCCATCTGT	0.562000													15	71					7.93312e-07	9.81778e-07	1	1	0
TRIO	7204	broad.mit.edu	37	5	14462950	14462950	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:14462950G>T	ENST00000344204.4	+	36	5607	c.5583G>T	c.(5581-5583)gaG>gaT	p.E1861D	TRIO_ENST00000537187.1_Missense_Mutation_p.E1861D|TRIO_ENST00000515710.1_3'UTR	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1861					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGAAGGCGAGGAGGGGGCCG	0.632000													14	170					4.3838e-07	5.49269e-07	1	1	0
IGHG2	3501	broad.mit.edu	37	14	106110218	106110218	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:106110218G>T	ENST00000390545.2	-	0	399																											TCAGGGGTCCGGGAGATCATG	0.602000													14	103					3.27435e-08	4.28643e-08	1	1	0
NCAPG2	54892	broad.mit.edu	37	7	158456929	158456929	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:158456929C>G	ENST00000409339.3	-	15	1875	c.1762G>C	c.(1762-1764)Gag>Cag	p.E588Q	NCAPG2_ENST00000541468.1_Missense_Mutation_p.E89Q|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E588Q|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E380Q|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E588Q|NCAPG2_ENST00000409423.1_Missense_Mutation_p.E588Q			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	588					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TCTGGAGGCTCTCTCACTGCC	0.488000													17	95					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9498709	9498709	+	Silent	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:9498709G>C	ENST00000246070.2	+	5	990	c.498G>C	c.(496-498)tcG>tcC	p.S166S	LAMP5_ENST00000427562.2_Silent_p.S122S	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	166						integral to membrane											CAGCCAACTCGCACCACCTCT	0.532000													4	63					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22924644	22924644	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:22924644G>T	ENST00000166244.3	+	12	2189	c.2116_splice	c.e12-1	p.G706_splice		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	706	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCCGCCCAGGCCGCCTGGCA	0.617000													12	89					6.40141e-05	7.37443e-05	1	1	0
OR4N4	283694	broad.mit.edu	37	15	22383204	22383204	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:22383204C>T	ENST00000328795.4	+	1	823	c.732C>T	c.(730-732)gtC>gtT	p.V244V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCACTCGTGTCATTATTATAC	0.483000													8	164					0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80553612	80553612	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:80553612C>A	ENST00000424301.2	+	8	1054	c.816C>A	c.(814-816)atC>atA	p.I272I	CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Silent_p.I272I|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Silent_p.I272I	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	272	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CCAGGGTAATCTCAATGGAAA	0.343000													7	34					5.18039e-06	6.26871e-06	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73151529	73151529	+	Silent	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:73151529T>G	ENST00000377110.2	-	25	4707	c.4464A>C	c.(4462-4464)tcA>tcC	p.S1488S	TRPM3_ENST00000423814.3_Silent_p.S1515S|TRPM3_ENST00000377105.1_Silent_p.S1347S|TRPM3_ENST00000408909.2_Silent_p.S1347S|TRPM3_ENST00000396280.5_Silent_p.S1337S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Silent_p.S1347S|TRPM3_ENST00000377106.1_Silent_p.S1360S|TRPM3_ENST00000360823.2_Silent_p.S1350S|TRPM3_ENST00000396292.4_Silent_p.S1360S|TRPM3_ENST00000357533.2_Silent_p.S1492S|TRPM3_ENST00000358082.3_Silent_p.S1350S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1513						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						TCGGAGGCTCTGAGTCCCAGG	0.498000													13	65					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73552639	73552639	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:73552639C>G	ENST00000339362.5	+	16	2678	c.2231C>G	c.(2230-2232)tCt>tGt	p.S744C	NEO1_ENST00000558964.1_Missense_Mutation_p.S744C|NEO1_ENST00000560262.1_Missense_Mutation_p.S744C|NEO1_ENST00000261908.6_Missense_Mutation_p.S744C			Q92859	NEO1_HUMAN	neogenin 1	744	Fibronectin type-III 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GTGCCTAGCTCTCTTCACGTA	0.468000													15	63					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354063	17354063	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:17354063G>T	ENST00000511821.1	+	0	45				FTH1P10_ENST00000401830.3_RNA																							CTCCCATCTTGCACAAGTTGG	0.468000													87	38					2.67039e-37	4.68539e-37	1	1	0
NETO1	81832	broad.mit.edu	37	18	70417453	70417453	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:70417453G>A	ENST00000327305.6	-	9	2042	c.1385C>T	c.(1384-1386)cCa>cTa	p.P462L	NETO1_ENST00000583169.1_Missense_Mutation_p.P462L|NETO1_ENST00000299430.2_Missense_Mutation_p.P461L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	462					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GGGTTTTCCTGGCTGTGTGGG	0.488000													10	23					0	0	1	0	0
LRAT	9227	broad.mit.edu	37	4	155665926	155665926	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:155665926G>T	ENST00000336356.3	+	2	701	c.448G>T	c.(448-450)Ggc>Tgc	p.G150C	LRAT_ENST00000507827.1_Missense_Mutation_p.G150C	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	150					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	AAAGCTGCTGGGCTTTACCCC	0.577000													8	68					0.000157383	0.000177651	1	1	0
AKT2	208	broad.mit.edu	37	19	40741976	40741976	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:40741976G>T	ENST00000392038.2	-	11	1294	c.996C>A	c.(994-996)gaC>gaA	p.D332E	AKT2_ENST00000424901.1_Missense_Mutation_p.D332E|AKT2_ENST00000311278.6_Missense_Mutation_p.D289E|AKT2_ENST00000579047.1_Missense_Mutation_p.D270E	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	332	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GCCCCCACCAGTCCACGGCCC	0.627000			A		"""ovarian, pancreatic """								8	75					2.17888e-05	2.56129e-05	1	1	0
CWH43	80157	broad.mit.edu	37	4	48993518	48993518	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:48993518G>T	ENST00000226432.4	+	3	466	c.283G>T	c.(283-285)Gtt>Ttt	p.V95F	CWH43_ENST00000513409.1_Missense_Mutation_p.V68F	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	95					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TCGACTGATGGTTCTTGCGCT	0.448000													60	159					2.27459e-33	3.95991e-33	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22924651	22924651	+	Silent	SNP	G	G	T	rs67228494		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:22924651G>T	ENST00000166244.3	+	12	2196	c.2124G>T	c.(2122-2124)ctG>ctT	p.L708L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	708	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGGCCGCCTGGCAATGATTG	0.617000													12	91					3.07112e-06	3.73875e-06	1	1	0
TEKT1	83659	broad.mit.edu	37	17	6718509	6718509	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:6718509G>A	ENST00000338694.2	-	5	731	c.602C>T	c.(601-603)tCt>tTt	p.S201F	TEKT1_ENST00000535086.1_Missense_Mutation_p.S55F	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	201					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GGCGTTCTCAGAATATCTGAT	0.502000													18	106					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72775954	72775954	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:72775954G>A	ENST00000299687.5	+	8	6277	c.6277G>A	c.(6277-6279)Gcg>Acg	p.A2093T		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2093					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGACACGGCCGCGGCCGGCCA	0.647000													7	8					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328100	88328100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:88328100G>T	ENST00000325089.6	+	2	676	c.457G>T	c.(457-459)Gag>Tag	p.E153*	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	153						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCTTGGCTTGGAGAACCTGGA	0.458000													8	189					1.06961e-07	1.38138e-07	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41966838	41966838	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:41966838G>C	ENST00000298919.7	+	10	1865	c.1477G>C	c.(1477-1479)Gac>Cac	p.D493H	PDZRN4_ENST00000539469.2_Missense_Mutation_p.D495H|PDZRN4_ENST00000402685.2_Missense_Mutation_p.D753H			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	753							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCTCACTGTAGACCGTTCCCC	0.498000													14	211					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168098328	168098328	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:168098328G>T	ENST00000519560.1	-	34	4421	c.4002C>A	c.(4000-4002)tcC>tcA	p.S1334S	SLIT3_ENST00000332966.8_Silent_p.S1341S|SLIT3_ENST00000404867.3_Silent_p.S1334S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1334					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACACGGTGCAGGACTTGCAGC	0.652000													5	40					0.000602214	0.000664149	1	1	0
SYT8	90019	broad.mit.edu	37	11	1858527	1858527	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:1858527C>T	ENST00000341958.3	+	8	1332	c.1030C>T	c.(1030-1032)Cac>Tac	p.H344Y	SYT8_ENST00000381968.3_Missense_Mutation_p.H358Y|SYT8_ENST00000535046.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	358	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCTGCAGCACTGGGCAGA	0.746000													3	11					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126201221	126201221	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:126201221G>T	ENST00000290868.2	-	20	2051	c.1998C>A	c.(1996-1998)gaC>gaA	p.D666E	UROC1_ENST00000383579.3_Missense_Mutation_p.D726E	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	666					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCACCCGCTCGTCCTCCACCT	0.647000													8	29					0.00307968	0.00328673	1	1	0
LILRP2	79166	broad.mit.edu	37	19	55221870	55221870	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:55221870C>A	ENST00000413439.1	+	0	1415																											AGCCCCTCACCCATCCTTCTT	0.627000													18	34					5.01169e-05	5.79999e-05	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13717031	13717031	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:13717031G>A	ENST00000279593.3	-	13	3350	c.3141C>T	c.(3139-3141)gaC>gaT	p.D1047D		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1047					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACTGTAGCGGTCGCTCTTGA	0.587000													20	41					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370573	56370573	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:56370573C>T	ENST00000301295.6	+	3	2236	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	NLRP4_ENST00000346986.5_Missense_Mutation_p.S605F|NLRP4_ENST00000587891.1_Missense_Mutation_p.S530F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	605							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTCTGTTTTTCCGTTCAAAAT	0.413000													6	79					0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	840641	840641	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:840641C>A	ENST00000283441.8	-	5	1136	c.753G>T	c.(751-753)ctG>ctT	p.L251L	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.L251L|ZDHHC11_ENST00000511539.1_Silent_p.L38L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	251						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCAGCTGGCCCAGGTGCACCA	0.597000													17	212					2.23348e-06	2.72891e-06	1	1	0
PRELP	5549	broad.mit.edu	37	1	203455889	203455889	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:203455889C>A	ENST00000343110.2	+	3	1156	c.1029C>A	c.(1027-1029)tcC>tcA	p.S343S		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	343					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGACTTCTCCTCGGACCTGG	0.567000													18	57					3.99206e-14	6.05567e-14	1	1	0
PABPC4	8761	broad.mit.edu	37	1	40034599	40034599	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:40034599T>C	ENST00000372857.3	-	6	1543	c.751A>G	c.(751-753)Atg>Gtg	p.M251V	PABPC4_ENST00000529216.1_5'UTR|PABPC4_ENST00000372856.3_Missense_Mutation_p.M251V|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.M251V|PABPC4_ENST00000372858.3_Missense_Mutation_p.M251V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	251	RRM 3.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTCCATTCATCTCTTCCACA	0.368000													7	122					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535261	169535261	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:169535261C>A	ENST00000306268.6	+	2	844	c.783C>A	c.(781-783)acC>acA	p.T261T	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	261					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGGCACCACCAGCTCCCCAG	0.632000									Pendred syndrome				19	59					1.33834e-09	1.82303e-09	1	1	0
FBN1	2200	broad.mit.edu	37	15	48787758	48787758	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:48787758C>A	ENST00000316623.5	-	21	2902	c.2447G>T	c.(2446-2448)tGc>tTc	p.C816F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	816	EGF-like 13; calcium-binding.		C -> S (in MFS).		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)		TCCATTAATGCAAGGACTTGA	0.378000													25	154					4.26978e-12	6.23307e-12	1	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535972	27535972	+	RNA	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:27535972A>G	ENST00000574842.1	+	0	255																											TGTTTTTTACATTAGTGTTTT	0.378000													11	20					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127339570	127339570	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:127339570G>T	ENST00000265056.7	+	14	2539	c.2295G>T	c.(2293-2295)cgG>cgT	p.R765R	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	765					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TTACGGTGCGGCACATCGAGT	0.582000													13	120					4.36969e-10	6.03376e-10	1	1	0
TAF5	6877	broad.mit.edu	37	10	105133135	105133135	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:105133135G>C	ENST00000369839.3	+	2	603	c.580G>C	c.(580-582)Gac>Cac	p.D194H	TAF5_ENST00000351396.4_Missense_Mutation_p.D194H	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	194					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGCTGTGGAAGACCAGCCAGA	0.393000													5	101					0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148947854	148947854	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:148947854A>C	ENST00000335870.2	+	3	625	c.497A>C	c.(496-498)tAc>tCc	p.Y166S		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	166	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AAGGAGCTCTACAGAAACGTG	0.483000													29	80					0	0	1	0	0
CAST	831	broad.mit.edu	37	5	96086363	96086363	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:96086363G>C	ENST00000395813.1	+	20	1687	c.1501G>C	c.(1501-1503)Gca>Cca	p.A501P	CAST_ENST00000508608.1_Missense_Mutation_p.A464P|CAST_ENST00000508830.1_Missense_Mutation_p.A501P|CAST_ENST00000515663.1_Missense_Mutation_p.A141P|CAST_ENST00000341926.3_Missense_Mutation_p.A418P|CAST_ENST00000395812.2_Missense_Mutation_p.A460P|CAST_ENST00000511782.1_Missense_Mutation_p.A404P|CAST_ENST00000511049.1_Missense_Mutation_p.A404P|CAST_ENST00000509903.1_Missense_Mutation_p.A383P|CAST_ENST00000508579.1_Missense_Mutation_p.A133P|CAST_ENST00000325674.7_Missense_Mutation_p.A466P|CAST_ENST00000338252.3_Missense_Mutation_p.A405P|CAST_ENST00000359176.4_Missense_Mutation_p.A482P|CAST_ENST00000510756.1_Missense_Mutation_p.A479P|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000309190.5_Missense_Mutation_p.A396P|CAST_ENST00000504465.1_Missense_Mutation_p.A346P			P20810	ICAL_HUMAN	calpastatin	418							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TATACAGTCAGCACCCCCTGA	0.532000													8	24					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123893778	123893778	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:123893778G>T	ENST00000375024.1	+	1	59	c.59G>T	c.(58-60)gGg>gTg	p.G20V		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATGCCCCAGGGCTGGACGCC	0.572000													40	188					7.63091e-17	1.21038e-16	1	1	0
DPYD	1806	broad.mit.edu	37	1	98058886	98058886	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:98058886C>A	ENST00000370192.3	-	10	1116	c.1016G>T	c.(1015-1017)gGa>gTa	p.G339V		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	339					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTCTCCAGCTCCAAGTACAAT	0.468000													22	86					1.28384e-07	1.6454e-07	1	1	0
FLG2	388698	broad.mit.edu	37	1	152327995	152327995	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:152327995G>C	ENST00000388718.5	-	3	2339	c.2267C>G	c.(2266-2268)tCt>tGt	p.S756C	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	756	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGCCAGAGGATTGTCC	0.512000													183	544					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600749	29600749	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:29600749G>A	ENST00000431530.3	+	1	2002	c.1944G>A	c.(1942-1944)aaG>aaA	p.K648K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	638	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCAAGCCCAAGCATGTGAGGC	0.562000													16	30					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997236	85997236	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:85997236C>A	ENST00000372105.3	-	2	350	c.329G>T	c.(328-330)cGg>cTg	p.R110L		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	110						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCGCAGCTCCCGCAGGCGTCG	0.741000													3	10					0.00909568	0.00950591	1	1	0
VSX1	30813	broad.mit.edu	37	20	25056989	25056989	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:25056989T>C	ENST00000376709.4	-	5	1269	c.1006A>G	c.(1006-1008)Acc>Gcc	p.T336A	VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000429762.3_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	336					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						ACTTTCTTGGTCTCCTGCCGG	0.597000													15	60					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107169463	107169463	+	Splice_Site	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:107169463C>G	ENST00000273980.4	-	10	1168	c.720_splice	c.e10-1	p.E241_splice	TBCK_ENST00000432496.2_Splice_Site_p.E241_splice|TBCK_ENST00000394706.3_Splice_Site_p.E202_splice|TBCK_ENST00000394708.2_Splice_Site_p.E241_splice|TBCK_ENST00000361687.4_Splice_Site_p.E178_splice			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	241	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TCAGGAAGCTCCTGGTAAATA	0.279000													8	26					0	0	1	0	0
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013884	33013884	+	RNA	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:33013884C>T	ENST00000567619.1	-	0	499																											ACACCTTCACCTACTGCTACT	0.522000													20	76					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20232387	20232387	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:20232387T>C	ENST00000245957.5	+	20	2384	c.2308T>C	c.(2308-2310)Tgc>Cgc	p.C770R	C20orf26_ENST00000389656.3_Missense_Mutation_p.C126R|C20orf26_ENST00000377293.1_Missense_Mutation_p.C126R|C20orf26_ENST00000377309.2_Missense_Mutation_p.C126R	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	770										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCTCATCCTCTGCACCGGGCA	0.582000													21	85					0	0	1	0	0
SPANXC	64663	broad.mit.edu	37	X	140335804	140335804	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:140335804G>A	ENST00000358993.2	-	2	178	c.140C>T	c.(139-141)tCc>tTc	p.S47F		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	47						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TATGGTCGAGGACTCAGATGT	0.517000													6	81					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114401565	114401565	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:114401565G>T	ENST00000536312.1	-	6	1057	c.165C>A	c.(163-165)ttC>ttA	p.F55L	NXPE1_ENST00000251921.2_5'UTR|NXPE1_ENST00000424269.1_Missense_Mutation_p.F55L					neurexophilin and PC-esterase domain family, member 1																		ATGTTTTAGGGAATAAGGACT	0.388000													31	122					9.04072e-19	1.47103e-18	1	1	0
TTN	7273	broad.mit.edu	37	2	179567269	179567269	+	Silent	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:179567269T>G	ENST00000589042.1	-	107	30569	c.30345A>C	c.(30343-30345)acA>acC	p.T10115T	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.T8871T|TTN_ENST00000591111.1_Silent_p.T9798T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9798	Glu-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)			CTGTCAGTTCTGTTGGTCCTT	0.463000													46	116					0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91616385	91616385	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:91616385C>G	ENST00000375846.3	+	1	4965	c.270C>G	c.(268-270)atC>atG	p.I90M	S1PR3_ENST00000358157.2_Missense_Mutation_p.I90M			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	90					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TGGCCGGCATCGCTTACAAGG	0.512000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	90					0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5808094	5808094	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:5808094C>A	ENST00000380191.4	-	11	1503	c.1213G>T	c.(1213-1215)Gat>Tat	p.D405Y	GDI2_ENST00000380181.3_Missense_Mutation_p.D360Y|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.D409Y	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	405					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						GTGGTGGCATCATATGTGCGG	0.398000													8	126					0.000157383	0.000177651	1	1	0
MAPT	4137	broad.mit.edu	37	17	44051795	44051795	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:44051795G>T	ENST00000344290.5	+	4	587	c.265G>T	c.(265-267)Gct>Tct	p.A89S	MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.A89S|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.A89S|MAPT_ENST00000574436.1_Missense_Mutation_p.A89S|MAPT_ENST00000415613.2_Missense_Mutation_p.A89S|MAPT_ENST00000431008.3_Missense_Mutation_p.A89S|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A89S|MAPT_ENST00000351559.5_Missense_Mutation_p.A89S|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000420682.2_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	89					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CGGCAAGCAGGCTGCCGCGCA	0.642000													3	14					1	1	1	1	0
PNMA1	9240	broad.mit.edu	37	14	74179620	74179620	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:74179620C>G	ENST00000316836.3	-	1	1508	c.723G>C	c.(721-723)gaG>gaC	p.E241D		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	241					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ccctagagctctcaacgctcc	0.517000													8	119					0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93273276	93273276	+	Missense_Mutation	SNP	C	C	T	rs150641129		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:93273276C>T	ENST00000163416.2	+	3	996	c.740C>T	c.(739-741)tCg>tTg	p.S247L	GOLGA5_ENST00000355976.2_Missense_Mutation_p.S247L	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	247					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GAAATGGCCTCGTTACTCCAA	0.388000			T	RET	papillary thyroid								9	67					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229631693	229631693	+	Silent	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:229631693T>C	ENST00000261396.3	-	7	1012	c.921A>G	c.(919-921)gcA>gcG	p.A307A	NUP133_ENST00000366679.1_Silent_p.A307A|NUP133_ENST00000537506.1_Silent_p.A291A	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	307					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CCCAACTGTATGCATGCTTTT	0.353000													17	62					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38692560	38692560	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:38692560G>T	ENST00000222345.6	+	20	5552	c.5043G>T	c.(5041-5043)ccG>ccT	p.P1681P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1681					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGACATCCCGCCTGCACACA	0.657000													6	55					0.00116845	0.00126781	1	1	0
ESR2	2100	broad.mit.edu	37	14	64727423	64727423	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:64727423C>T	ENST00000557772.1	-	4	695	c.696G>A	c.(694-696)caG>caA	p.Q232Q	ESR2_ENST00000553796.1_Silent_p.Q232Q|ESR2_ENST00000554572.1_Silent_p.Q232Q|ESR2_ENST00000542956.1_Silent_p.Q232Q|ESR2_ENST00000358599.5_Silent_p.Q232Q|ESR2_ENST00000555278.1_Silent_p.Q232Q|ESR2_ENST00000357782.2_Silent_p.Q232Q|ESR2_ENST00000353772.3_Silent_p.Q232Q|ESR2_ENST00000341099.4_Silent_p.Q232Q|ESR2_ENST00000267525.6_Silent_p.Q232Q|ESR2_ENST00000555483.1_5'UTR	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	232	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CGGCACTTCTCTGTCTCCGCA	0.622000													13	49					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20180536	20180536	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:20180536C>G	ENST00000245957.5	+	17	1998	c.1922C>G	c.(1921-1923)tCc>tGc	p.S641C	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	641										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AAGGCGGTCTCCAAGGATCCG	0.617000													9	134					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69337200	69337200	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:69337200G>T	ENST00000305363.4	+	5	413	c.349G>T	c.(349-351)Gct>Tct	p.A117S		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	117	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TGGAGTGTTGGCTCATATGCT	0.398000													92	156					3.10062e-51	5.50736e-51	1	1	0
PALMD	54873	broad.mit.edu	37	1	100152286	100152286	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:100152286G>A	ENST00000263174.4	+	4	681	c.306G>A	c.(304-306)aaG>aaA	p.K102K	PALMD_ENST00000605497.1_Silent_p.K102K	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	102					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TCTCAACGAAGGAAGAGGCCA	0.338000													13	82					0	0	1	0	0
OS9	10956	broad.mit.edu	37	12	58112076	58112076	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:58112076G>A	ENST00000315970.7	+	11	1323	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	OS9_ENST00000413095.2_Missense_Mutation_p.D222N|OS9_ENST00000435406.2_Missense_Mutation_p.D376N|OS9_ENST00000389146.6_Missense_Mutation_p.D428N|OS9_ENST00000552285.1_Missense_Mutation_p.D428N|OS9_ENST00000389142.5_Missense_Mutation_p.D428N|OS9_ENST00000551035.1_Missense_Mutation_p.D396N|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000439210.2_Missense_Mutation_p.D369N|OS9_ENST00000257966.8_Missense_Mutation_p.D429N	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	428	Asp/Glu-rich (acidic).				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			tgaagatgaggatgaACGGCA	0.542000													6	100					0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58690364	58690364	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:58690364T>G	ENST00000254286.4	+	9	739	c.659T>G	c.(658-660)cTg>cGg	p.L220R		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	220						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						GTAAGTGATCTGAAGCGAGGA	0.338000													7	21					0	0	1	0	0
CALHM2	51063	broad.mit.edu	37	10	105209648	105209648	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:105209648C>G	ENST00000393235.1	-	3	1248	c.51G>C	c.(49-51)aaG>aaC	p.K17N	CALHM2_ENST00000260743.5_Missense_Mutation_p.K17N|CALHM2_ENST00000369788.3_Missense_Mutation_p.K17N|CALHM2_ENST00000494180.1_5'UTR			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	17						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CATCCTTGCTCTTGAAGAAAA	0.607000													10	110					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328596	88328596	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:88328596C>G	ENST00000325089.6	+	2	1172	c.953C>G	c.(952-954)aCt>aGt	p.T318S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.T77S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	318						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCTGTGGCCACTTCTTCCTCT	0.577000													12	199					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41091776	41091776	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:41091776G>A	ENST00000324545.7	+	45	8345	c.7712G>A	c.(7711-7713)tGa>tAa	p.*2571*	USP9X_ENST00000378308.2_Silent_p.*2555*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	0					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAGGATCAATGAAATGCACAT	0.418000													3	30					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8583184	8583184	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:8583184C>A	ENST00000382487.4	+	1	892	c.475C>A	c.(475-477)Cgc>Agc	p.R159S	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	159					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CTGTTCGCTGCGCCTGCCGCC	0.701000													6	3					0.0293803	0.030189	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80136878	80136878	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:80136878C>T	ENST00000466387.1	+	11	1735	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	CTNNA2_ENST00000496558.1_Silent_p.A337A|CTNNA2_ENST00000541047.1_Silent_p.A337A|CTNNA2_ENST00000361291.4_Silent_p.A371A|CTNNA2_ENST00000402739.4_Silent_p.A337A|CTNNA2_ENST00000540488.1_Silent_p.A337A			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	337					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGTGCAACGCCGTGCGGCAGG	0.597000													10	44					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237957257	237957257	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:237957257G>T	ENST00000366574.2	+	95	14190	c.13873G>T	c.(13873-13875)Gat>Tat	p.D4625Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D4609Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D4631Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4625					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)			TTCAGAAGATGATATTAAAGG	0.358000													8	27					3.09899e-07	3.89985e-07	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11572723	11572723	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:11572723C>T	ENST00000262442.3	+	17	3033	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R989W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	989	Stem (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	p.R989W(1)		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)		GGCAAACATGCGGCGCACACT	0.557000													4	49					0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186427700	186427700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:186427700G>A	ENST00000284770.5	-	6	842	c.769C>T	c.(769-771)Cag>Tag	p.Q257*	PDLIM3_ENST00000284771.6_Nonsense_Mutation_p.Q209*|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	257						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ACCATTCCCTGGAGCACTCTG	0.632000													8	55					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216497615	216497615	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:216497615T>A	ENST00000366943.2	-	7	1609	c.1223A>T	c.(1222-1224)gAt>gTt	p.D408V	USH2A_ENST00000366942.3_Missense_Mutation_p.D408V|USH2A_ENST00000307340.3_Missense_Mutation_p.D408V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	408	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCCTCCCAATCTAAACTATT	0.348000										HNSCC(13;0.011)			3	29					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108141819	108141819	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:108141819G>A	ENST00000278616.4	+	19	3252	c.2867G>A	c.(2866-2868)gGa>gAa	p.G956E	ATM_ENST00000452508.2_Missense_Mutation_p.G956E	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	956					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGCTTCCTGGAGAAGAGTAC	0.318000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			6	60					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494163	21494163	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:21494163C>A	ENST00000377142.4	-	1	501	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	49					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCGCCCTGCCCCAGCGGCCCG	0.692000													11	26					6.40141e-05	7.37443e-05	1	1	0
OR52B6	340980	broad.mit.edu	37	11	5602111	5602111	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:5602111C>A	ENST00000345043.2	+	1	5	c.5C>A	c.(4-6)gCa>gAa	p.A2E	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCCTATGGCACAGGTGAGG	0.453000													15	33					0.000219431	0.000247274	1	1	0
IGLV5-45	28781	broad.mit.edu	37	22	22730725	22730725	+	RNA	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:22730725G>T	ENST00000390296.2	+	0	248																											GTACAAATCAGACTCAGATAA	0.537000													10	96					7.48243e-07	9.29426e-07	1	1	0
EYA1	2138	broad.mit.edu	37	8	72128978	72128978	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:72128978G>T	ENST00000340726.3	-	14	1948	c.1309C>A	c.(1309-1311)Cgc>Agc	p.R437S	EYA1_ENST00000388740.3_Missense_Mutation_p.R404S|EYA1_ENST00000303824.7_Missense_Mutation_p.R431S|EYA1_ENST00000419131.1_Missense_Mutation_p.R402S|EYA1_ENST00000388743.2_Missense_Mutation_p.R436S|EYA1_ENST00000388742.4_Missense_Mutation_p.R437S|EYA1_ENST00000388741.2_Missense_Mutation_p.R403S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	437					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CGTCTGTAGCGGAAGGCCAAC	0.473000													26	83					3.6726e-16	5.73951e-16	1	1	0
PTPN18	26469	broad.mit.edu	37	2	131126742	131126742	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:131126742C>G	ENST00000175756.5	+	6	552	c.451C>G	c.(451-453)Cca>Gca	p.P151A	PTPN18_ENST00000347849.3_Missense_Mutation_p.P44A	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	151	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GGAGCAGGAGCCACTGCAGAC	0.537000													20	155					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93646103	93646103	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:93646103G>T	ENST00000394236.3	-	2	541	c.225C>A	c.(223-225)gaC>gaA	p.D75E	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	75	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CCGTTTCCGGGTCATTTTCAA	0.393000													29	66					1.56442e-22	2.65477e-22	1	1	0
BAI3	577	broad.mit.edu	37	6	70071376	70071376	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:70071376G>T	ENST00000370598.1	+	29	5032	c.4211G>T	c.(4210-4212)gGa>gTa	p.G1404V	BAI3_ENST00000546190.1_Missense_Mutation_p.G368V|BAI3_ENST00000238918.8_Missense_Mutation_p.G610V	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1404					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G1404V(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGTGAAACTGGATCAACGATA	0.358000													15	68					1.05317e-09	1.44043e-09	1	1	0
CASS4	57091	broad.mit.edu	37	20	55026919	55026919	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:55026919C>T	ENST00000371336.3	+	5	888	c.687C>T	c.(685-687)ggC>ggT	p.G229G	CASS4_ENST00000360314.3_Silent_p.G229G|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	229					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TAAGAAGAGGCGGTTACAGCA	0.517000													20	50					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128494959	128494959	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:128494959G>A	ENST00000325888.8	+	42	7389	c.7128G>A	c.(7126-7128)caG>caA	p.Q2376Q	FLNC_ENST00000346177.6_Silent_p.Q2343Q|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2376					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATGTCGTCCAGGAACCAGGTG	0.627000													10	88					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125565642	125565642	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:125565642G>T	ENST00000518547.1	-	14	2332	c.1859C>A	c.(1858-1860)aCc>aAc	p.T620N	MTSS1_ENST00000524090.1_Missense_Mutation_p.T510N|MTSS1_ENST00000395508.2_Missense_Mutation_p.T394N|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000431961.2_Missense_Mutation_p.T338N|MTSS1_ENST00000378017.3_Missense_Mutation_p.T595N|MTSS1_ENST00000325064.5_Missense_Mutation_p.T624N|MTSS1_ENST00000354184.4_Missense_Mutation_p.T338N	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	620	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GACGGTTGGGGTCTTGACAGG	0.647000													15	45					0.000308642	0.000343011	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228487150	228487150	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:228487150G>T	ENST00000570156.2	+	50	13475	c.13401G>T	c.(13399-13401)ctG>ctT	p.L4467L	OBSCN_ENST00000366707.4_Silent_p.L1157L|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3510	Ig-like 46.				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)				TTCATGGCCTGGCTATGGCAG	0.562000													46	70					3.77016e-25	6.46863e-25	1	1	0
CPS1	1373	broad.mit.edu	37	2	211540453	211540453	+	Splice_Site	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:211540453T>A	ENST00000233072.5	+	36	4359	c.4161_splice	c.e36-1	p.L1388_splice	CPS1_ENST00000451903.2_Splice_Site_p.L937_splice|CPS1_ENST00000430249.2_Splice_Site_p.L1394_splice	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1388					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TAAATGCAGCTGTTTGCCACG	0.418000													4	36					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109379948	109379948	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:109379948C>G	ENST00000283195.6	+	20	3079	c.2953C>G	c.(2953-2955)Ccg>Gcg	p.P985A		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	985					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CACAAAACCTCCGATTGCAGC	0.423000													9	97					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62903554	62903554	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:62903554C>A	ENST00000512091.1	+	23	4240	c.3493C>A	c.(3493-3495)Cgc>Agc	p.R1165S	LPHN3_ENST00000511324.1_Missense_Mutation_p.R1224S|LPHN3_ENST00000545650.1_Missense_Mutation_p.R1165S|LPHN3_ENST00000504896.1_Missense_Mutation_p.R1165S|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1233S|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1224S|LPHN3_ENST00000514591.1_Missense_Mutation_p.R1165S|LPHN3_ENST00000508946.1_Missense_Mutation_p.R1165S|LPHN3_ENST00000514996.1_Missense_Mutation_p.R1156S|LPHN3_ENST00000514157.1_Missense_Mutation_p.R1156S|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1224S|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1233S|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1224S|LPHN3_ENST00000506700.1_Missense_Mutation_p.R1156S|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1233S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1143					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AACTCCTGGACGCTACTCCAC	0.408000													7	53					1.06961e-07	1.38138e-07	1	1	0
NAP1L3	4675	broad.mit.edu	37	X	92927879	92927879	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:92927879G>C	ENST00000373079.3	-	1	688	c.425C>G	c.(424-426)cCt>cGt	p.P142R	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	142					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ATCATACAGAGGCTTGTTGAG	0.393000													5	33					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20337722	20337722	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:20337722G>T	ENST00000302555.5	-	2	181	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	GP2_ENST00000381360.5_Missense_Mutation_p.S11Y|GP2_ENST00000341642.5_Missense_Mutation_p.S11Y|GP2_ENST00000381362.4_Missense_Mutation_p.S11Y			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	11						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGGAGGCCAGAGCCCACCAT	0.522000													18	49					3.57192e-18	5.77003e-18	1	1	0
INSR	3643	broad.mit.edu	37	19	7150532	7150532	+	Nonsense_Mutation	SNP	G	G	C	rs143523271	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:7150532G>C	ENST00000302850.5	-	11	2385	c.2243C>G	c.(2242-2244)tCa>tGa	p.S748*	INSR_ENST00000341500.5_Intron	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	748					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCAGTGCCTGAAGAGGTTTT	0.592000													5	24					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784736	82784736	+	Silent	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:82784736T>C	ENST00000423517.2	-	2	1558	c.1221A>G	c.(1219-1221)ccA>ccG	p.P407P	PCLO_ENST00000333891.8_Silent_p.P407P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	358	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGCTTTGCTGGCCCTGGCT	0.582000													24	105					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206224747	206224747	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:206224747C>A	ENST00000367126.4	+	1	772	c.307C>A	c.(307-309)Ccc>Acc	p.P103T		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	103					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTTCCAGGGCCCCGACCTCCT	0.632000													34	69					3.90053e-15	6.00264e-15	1	1	0
CXCR2P1	3580	broad.mit.edu	37	2	218925282	218925282	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:218925282C>A	ENST00000439871.1	-	0	1098					NR_002712.1																						GTCGTTGCGGCGCTCACAGGT	0.557000													11	42					0.00829132	0.00872406	1	1	0
ANO7	50636	broad.mit.edu	37	2	242129565	242129565	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:242129565G>T	ENST00000274979.8	+	2	352	c.249G>T	c.(247-249)ggG>ggT	p.G83G	ANO7_ENST00000402430.3_Silent_p.G83G|ANO7_ENST00000402530.3_Silent_p.G83G	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	83						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCTCTTACGGGAGCACAGCCC	0.662000													2	3					0.115264	0.117064	1	1	0
HERC1	8925	broad.mit.edu	37	15	64008546	64008546	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:64008546C>T	ENST00000443617.2	-	22	4192	c.4105G>A	c.(4105-4107)Gag>Aag	p.E1369K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1369	Glu-rich.				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						TCTTCATCCTCTGGCTCCGGA	0.468000													6	98					0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162825107	162825107	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:162825107C>G	ENST00000367912.1	-	4	528	c.354G>C	c.(352-354)aaG>aaC	p.K118N	C1orf110_ENST00000367910.1_Missense_Mutation_p.K119N|C1orf110_ENST00000367911.2_Missense_Mutation_p.K114N|C1orf110_ENST00000524691.1_Intron			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	119										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GCACCTGGGACTTGCTTTTGC	0.443000													77	256					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	633391	633391	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:633391C>T	ENST00000026218.5	+	10	2128	c.2040C>T	c.(2038-2040)ccC>ccT	p.P680P	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	680					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CACAGCAGCCCCAGGTGGAGG	0.687000													6	101					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38510812	38510812	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:38510812C>G	ENST00000263409.4	-	7	907	c.745G>C	c.(745-747)Gat>Cat	p.D249H	LIFR_ENST00000453190.2_Missense_Mutation_p.D249H|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	249					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GTCTGAGAATCAGGTATCCCT	0.303000			T	PLAG1	salivary adenoma								54	30					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101824377	101824377	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:101824377T>A	ENST00000375001.3	+	37	3950	c.3527T>A	c.(3526-3528)tTa>tAa	p.L1176*		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1176	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGGAAAAAATTACAGGTAATT	0.363000													7	156					0	0	1	0	0
SDHB	6390	broad.mit.edu	37	1	17349133	17349133	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:17349133G>A	ENST00000375499.3	-	7	885	c.735C>T	c.(733-735)acC>acT	p.T245T		NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	245					respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	AGTTCATGATGGTGTGGCAGC	0.552000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				17	91					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53096952	53096952	+	Silent	SNP	C	C	T	rs139875220		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:53096952C>T	ENST00000341809.3	-	1	295	c.267G>A	c.(265-267)ggG>ggA	p.G89G	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	89	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCCAAATCCCCCTACTCCCC	0.567000													6	18					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681737	100681737	+	Missense_Mutation	SNP	C	C	T	rs150945801		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:100681737C>T	ENST00000306151.4	+	3	7104	c.7040C>T	c.(7039-7041)aCc>aTc	p.T2347I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2347	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					CCTGTCAGCACCACAATGGTG	0.488000													174	309					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110709580	110709580	+	Missense_Mutation	SNP	G	G	T	rs146348475		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:110709580G>T	ENST00000331565.4	+	2	514	c.29G>T	c.(28-30)cGt>cTt	p.R10L	RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	10					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTGACCCAGCGTGAGCACAGC	0.582000													3	30					0.004672	0.00494163	1	1	0
TEKT1	83659	broad.mit.edu	37	17	6716245	6716245	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:6716245G>A	ENST00000338694.2	-	6	886	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	TEKT1_ENST00000535086.1_Silent_p.L107L	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	253					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TGCTTGCGCAGATCATTGGCT	0.542000													6	100					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755644	10755644	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:10755644C>A	ENST00000416569.2	-	3	1770	c.1744G>T	c.(1744-1746)Ggg>Tgg	p.G582W	XKR6_ENST00000304437.2_Missense_Mutation_p.G303W	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	582						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ATGAGGGGCCCTTCTGGGAGG	0.517000													11	26					3.86212e-05	4.47473e-05	1	1	0
WRB	7485	broad.mit.edu	37	21	40763712	40763712	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr21:40763712C>A	ENST00000333781.5	+	3	427	c.286C>A	c.(286-288)Caa>Aaa	p.Q96K	WRB_ENST00000466787.1_3'UTR|WRB_ENST00000541890.1_Missense_Mutation_p.Q96K|WRB_ENST00000398753.1_Missense_Mutation_p.Q62K|WRB_ENST00000380708.1_Missense_Mutation_p.Q62K	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	96						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TCGGACAGCTCAATTAGCCAA	0.408000													4	55					2.56e-06	3.12407e-06	1	1	0
HOXD10	3236	broad.mit.edu	37	2	176983899	176983899	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:176983899C>A	ENST00000249501.4	+	2	1218	c.963C>A	c.(961-963)ctC>ctA	p.L321L	HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	321						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GAATGAAACTCAAGAAGATGA	0.547000													5	94					0.184627	0.186104	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22157531	22157531	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:22157531C>A	ENST00000397126.4	-	4	453	c.305G>T	c.(304-306)aGg>aTg	p.R102M	ZNF208_ENST00000599916.1_Splice_Site_p.R102_splice|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTTTCATACCTTCTCAATAT	0.328000													36	56					1.22384e-17	1.95814e-17	1	1	0
DST	667	broad.mit.edu	37	6	56483219	56483219	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:56483219G>T	ENST00000370765.6	-	23	5720	c.5613C>A	c.(5611-5613)agC>agA	p.S1871R	DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1283					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTTGGCTGTGCTCTTTTTTT	0.433000													23	72					5.26018e-13	7.82044e-13	1	1	0
DHX35	60625	broad.mit.edu	37	20	37647446	37647446	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:37647446G>T	ENST00000252011.3	+	15	1435		c.e15-1		DHX35_ENST00000373325.2_Splice_Site|DHX35_ENST00000373323.4_Splice_Site	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35							catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCTTATGGCAGGTCTGGACAA	0.423000													76	120					2.43199e-30	4.20849e-30	1	1	0
SYT4	6860	broad.mit.edu	37	18	40851687	40851687	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:40851687G>T	ENST00000255224.3	-	3	1328	c.960C>A	c.(958-960)tcC>tcA	p.S320S	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.S302S	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	320	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTGAAAGTCCGGACACATCAG	0.418000													10	57					3.86212e-05	4.47473e-05	1	1	0
ZNF410	57862	broad.mit.edu	37	14	74360539	74360539	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:74360539G>T	ENST00000555044.1	+	3	267	c.73G>T	c.(73-75)Gga>Tga	p.G25*	ZNF410_ENST00000324593.6_Nonsense_Mutation_p.G25*|ZNF410_ENST00000540593.1_Nonsense_Mutation_p.G25*|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000442160.3_Nonsense_Mutation_p.G25*|ZNF410_ENST00000334521.4_5'UTR|ZNF410_ENST00000556797.1_5'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		CATCCCATTGGGACAGGGGCT	0.448000													17	64					5.03518e-11	7.18396e-11	1	1	0
MOGAT3	346606	broad.mit.edu	37	7	100839311	100839311	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:100839311G>T	ENST00000440203.2	-	6	1085	c.1028C>A	c.(1027-1029)tCt>tAt	p.S343Y	MOGAT3_ENST00000223114.4_Silent_p.L314L|MOGAT3_ENST00000379423.3_Missense_Mutation_p.L247I			Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CCGTCATGTAGAGGGCGTGAT	0.662000													7	33					2.7689e-08	3.65081e-08	1	1	0
TACC2	10579	broad.mit.edu	37	10	123846414	123846414	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:123846414C>T	ENST00000369005.1	+	4	4739	c.4399C>T	c.(4399-4401)Cct>Tct	p.P1467S	TACC2_ENST00000334433.3_Missense_Mutation_p.P1467S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.P1467S|TACC2_ENST00000453444.2_Missense_Mutation_p.P1467S|TACC2_ENST00000515603.1_Missense_Mutation_p.P1467S|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1467						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCTGCACCTCCTGCTCGACT	0.572000													4	52					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11071251	11071251	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:11071251G>T	ENST00000409790.1	+	8	1128	c.898G>T	c.(898-900)Gac>Tac	p.D300Y	CLEC16A_ENST00000409552.3_Missense_Mutation_p.D298Y	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	300										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGAGAACCAGGACAAGGTGGG	0.572000													8	29					0.000157383	0.000177651	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18770771	18770771	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:18770771T>A	ENST00000380548.4	+	17	2728	c.2389T>A	c.(2389-2391)Tgg>Agg	p.W797R		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	797	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCTCAGACTGGACAGAGGT	0.473000													11	19					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677836	25677836	+	Missense_Mutation	SNP	G	G	T	rs115874588	by1000genomes	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:25677836G>T	ENST00000382051.3	+	13	1588	c.1538G>T	c.(1537-1539)cGc>cTc	p.R513L	SLC34A2_ENST00000504570.1_Missense_Mutation_p.R512L|SLC34A2_ENST00000503434.1_Missense_Mutation_p.R512L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	513					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTGCCCATCCGCATGGCCAAG	0.562000			T	ROS1	NSCLC								53	46					6.88607e-10	9.48246e-10	1	1	0
SYT7	9066	broad.mit.edu	37	11	61323636	61323636	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:61323636G>A	ENST00000263846.4	-	2	402	c.75C>T	c.(73-75)acC>acT	p.T25T	SYT7_ENST00000535826.1_Silent_p.T25T|SYT7_ENST00000540677.1_Silent_p.T25T|SYT7_ENST00000542836.1_Silent_p.T25T|SYT7_ENST00000542670.1_Silent_p.T25T|SYT7_ENST00000539008.1_Silent_p.T25T	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	25						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAAGGCTGACGGTGATGATGG	0.667000													3	19					0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20004792	20004792	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:20004792G>T	ENST00000440926.1	-	16	1911	c.1441C>A	c.(1441-1443)Ccc>Acc	p.P481T	SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000265808.7_Missense_Mutation_p.P449T|SLC18A1_ENST00000519026.1_Missense_Mutation_p.P449T|SLC18A1_ENST00000276373.5_Missense_Mutation_p.P481T	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	481					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		TTTGCCGGGGGGCTCCGCAGG	0.502000													16	18					2.31682e-05	2.71395e-05	1	1	0
GRM7	2917	broad.mit.edu	37	3	7348275	7348275	+	Silent	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:7348275G>C	ENST00000486284.1	+	4	1243	c.969G>C	c.(967-969)ctG>ctC	p.L323L	GRM7_ENST00000403881.1_Silent_p.L323L|GRM7_ENST00000389336.4_Silent_p.L323L|GRM7_ENST00000357716.4_Silent_p.L323L|GRM7_ENST00000402647.2_Silent_p.L323L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	323					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)	TAAACCCACTGCACCAGCATG	0.517000													36	42					0	0	1	0	0
THBD	7056	broad.mit.edu	37	20	23028912	23028912	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:23028912C>A	ENST00000377103.2	-	1	1466	c.1230G>T	c.(1228-1230)caG>caT	p.Q410H		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	410	EGF-like 5.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GACAGGCAGTCTGGTTGCAAA	0.617000													21	79					2.98393e-07	3.77391e-07	1	1	0
OR5D14	219436	broad.mit.edu	37	11	55563454	55563454	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:55563454G>T	ENST00000335605.1	+	1	423	c.423G>T	c.(421-423)agG>agT	p.R141S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTCACAGAGGCTCTGTGCCC	0.527000													26	83					1.55469e-16	2.45056e-16	1	1	0
ASPM	259266	broad.mit.edu	37	1	197091640	197091640	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:197091640T>A	ENST00000367409.4	-	14	3732	c.3476A>T	c.(3475-3477)gAc>gTc	p.D1159V	ASPM_ENST00000367408.1_Missense_Mutation_p.D409V|ASPM_ENST00000294732.7_Missense_Mutation_p.D1159V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1159	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACATATAGCGTCAAATGGCAC	0.418000													11	33					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457385	110457385	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:110457385G>T	ENST00000378402.5	+	38	5391	c.5287G>T	c.(5287-5289)Gta>Tta	p.V1763L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1763	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATAGGATCTGTAAAAGTTCT	0.418000										HNSCC(38;0.096)			20	63					2.94398e-08	3.87407e-08	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14763736	14763736	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:14763736C>G	ENST00000358984.4	+	7	1052	c.872C>G	c.(871-873)aCa>aGa	p.T291R	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.T291R	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	291										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GCGGAAAGAACACCTGACACG	0.473000													16	25					0	0	1	0	0
RPSAP58	388524	broad.mit.edu	37	19	24010603	24010603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:24010603G>T	ENST00000496398.1	+	4	1063	c.640G>T	c.(640-642)Gag>Tag	p.E214*	RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Nonsense_Mutation_p.E214*																endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						TGAAAAAGAAGAGCAGGCTGC	0.522000													4	20					1.76689e-08	2.33731e-08	1	1	0
SNX19	399979	broad.mit.edu	37	11	130785628	130785628	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:130785628G>T	ENST00000265909.4	-	1	776	c.207C>A	c.(205-207)ctC>ctA	p.L69L	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Silent_p.L69L	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	69					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	p.L69L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCACTCCAGCGAGGCTGGAGC	0.602000													6	47					0.248553	0.249667	1	1	0
GYPB	2994	broad.mit.edu	37	4	144918704	144918704	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:144918704G>T	ENST00000283126.7	-	4	314	c.259C>A	c.(259-261)Cga>Aga	p.R87R	GYPB_ENST00000502664.1_Silent_p.R87R|GYPB_ENST00000513128.1_Silent_p.R54R|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000429670.2_Silent_p.A61A					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TTTATCAGTCGGCGAATACTG	0.373000													14	31					4.3838e-07	5.49269e-07	1	1	0
FRMPD4	9758	broad.mit.edu	37	X	12734828	12734828	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:12734828C>A	ENST00000380682.1	+	15	2756	c.2250C>A	c.(2248-2250)gaC>gaA	p.D750E		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	750					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACGCGGAGGACGAGGACGAGG	0.572000													40	45					2.87052e-16	4.50348e-16	1	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119134524	119134524	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:119134524G>T	ENST00000264245.4	+	12	4280	c.3748G>T	c.(3748-3750)Gat>Tat	p.D1250Y		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1250					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGCCAAAGATGATTCTCCCTC	0.562000													8	30					1.06961e-07	1.38138e-07	1	1	0
SHROOM2	357	broad.mit.edu	37	X	9900701	9900701	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:9900701C>T	ENST00000380913.3	+	6	3468	c.3378C>T	c.(3376-3378)acC>acT	p.T1126T	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1126					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCAGGACACCCCGAAGGCCA	0.652000													7	23					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	880946	880946	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:880946C>T	ENST00000327044.6	-	17	2054	c.2005G>A	c.(2005-2007)Gac>Aac	p.D669N		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	669	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTGTTCAGGTCAAAGAGGTCT	0.562000													5	77					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101890161	101890161	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:101890161C>A	ENST00000251127.6	-	12	1460	c.1379G>T	c.(1378-1380)gGa>gTa	p.G460V	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.G460V	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	460						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGAGTAGTTCCAATTACGAG	0.318000													91	184					5.00475e-40	8.82727e-40	1	1	0
PSG3	5671	broad.mit.edu	37	19	43242965	43242965	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:43242965C>A	ENST00000327495.5	-	2	525	c.341G>T	c.(340-342)cGg>cTg	p.R114L	PSG3_ENST00000595140.1_Missense_Mutation_p.R114L|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	114	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGCGTCCTCCCGGGTGACATT	0.463000													265	371					4.05481e-83	7.22766e-83	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414142	20414142	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:20414142C>T	ENST00000380338.4	-	5	988	c.702G>A	c.(700-702)aaG>aaA	p.K234K	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.K231K	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTTTGGGTTTCTTAGAGGATT	0.388000			T	MLL	ALL								52	179					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519471	43519471	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:43519471C>A	ENST00000401740.1	-	4	864	c.761G>T	c.(760-762)gGa>gTa	p.G254V	PSG11_ENST00000403486.1_Missense_Mutation_p.G132V|PSG11_ENST00000320078.7_Missense_Mutation_p.G254V|PSG11_ENST00000306322.7_Missense_Mutation_p.G132V			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	254	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GAGGTTCTCTCCTGAATAGTA	0.463000													94	133					3.16549e-35	5.53961e-35	1	1	0
TTN	7273	broad.mit.edu	37	2	179592841	179592841	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:179592841C>G	ENST00000589042.1	-	67	19934	c.19710G>C	c.(19708-19710)gtG>gtC	p.V6570V	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V5326V|TTN_ENST00000591111.1_Silent_p.V6253V|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6253	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAACCTTTCACAGTTAAGA	0.363000													9	16					0	0	1	0	0
CIRBP	1153	broad.mit.edu	37	19	1272339	1272339	+	Missense_Mutation	SNP	G	G	T	rs148277498	by1000genomes	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:1272339G>T	ENST00000444172.2	+	5	766	c.632G>T	c.(631-633)cGc>cTc	p.R211L	CIRBP_ENST00000588230.1_Missense_Mutation_p.R264L|CIRBP_ENST00000589710.1_Missense_Mutation_p.R264L|CIRBP_ENST00000320936.5_Intron|CIRBP_ENST00000588030.1_Intron|CIRBP_ENST00000588090.1_Intron|CIRBP_ENST00000587896.1_Missense_Mutation_p.R264L|CIRBP_ENST00000589660.1_Intron|CIRBP_ENST00000413636.2_Missense_Mutation_p.R230L|CIRBP_ENST00000591935.1_Intron|CIRBP_ENST00000589686.1_Intron|CIRBP_ENST00000586472.1_Intron|CIRBP_ENST00000586773.1_Intron|CIRBP_ENST00000589235.1_Intron|CIRBP_ENST00000585630.1_Intron|CIRBP_ENST00000587323.1_Missense_Mutation_p.R264L			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	108					mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCCGGCCGCAGGCCGCGC	0.657000													11	42					0.00829132	0.00872406	1	1	0
RPTOR	57521	broad.mit.edu	37	17	78727894	78727894	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:78727894G>A	ENST00000306801.3	+	6	1101	c.739G>A	c.(739-741)Gag>Aag	p.E247K	RPTOR_ENST00000570891.1_Missense_Mutation_p.E247K|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.E62K|RPTOR_ENST00000544334.2_Missense_Mutation_p.E247K	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	247					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCAGCCTGCGAGGCCACCGA	0.597000													44	177					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831332	49831332	+	RNA	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:49831332A>T	ENST00000527477.1	+	0	1557																											CAACAGTCATATCTTCTGATG	0.328000													4	20					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7805722	7805722	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:7805722C>A	ENST00000379562.3	-	10	929	c.882G>T	c.(880-882)ctG>ctT	p.L294L	KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Silent_p.L294L|KIN_ENST00000543003.1_Silent_p.L188L			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	294	C-terminal subdomain A.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						ATTTCTCTCCCAGTTTCTTGG	0.303000													8	39					3.09899e-07	3.89985e-07	1	1	0
REM2	161253	broad.mit.edu	37	14	23355422	23355422	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:23355422C>A	ENST00000536884.1	+	3	701	c.635C>A	c.(634-636)cCg>cAg	p.P212Q	REM2_ENST00000267396.4_Silent_p.R237R			Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	0					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GGCCCGCTCCCGGGAGGTATC	0.572000													5	24					0.014758	0.0152889	1	1	0
TBX5	6910	broad.mit.edu	37	12	114793417	114793417	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:114793417C>A	ENST00000310346.4	-	9	2143	c.1477G>T	c.(1477-1479)Gtg>Ttg	p.V493L	TBX5_ENST00000349716.5_Missense_Mutation_p.V443L|TBX5_ENST00000405440.2_Missense_Mutation_p.V493L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	493					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTCCTTGGCACGCCATGAGAG	0.602000													7	44					0.00198382	0.00212846	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76461375	76461375	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:76461375C>G	ENST00000307431.8	+	5	799	c.414C>G	c.(412-414)gaC>gaG	p.D138E	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.D142E|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D138E|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D114E	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	139	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAAATGCAGACAGTGTTGTGT	0.423000													36	150					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50863008	50863008	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:50863008G>C	ENST00000253719.2	-	6	988	c.780C>G	c.(778-780)atC>atG	p.I260M	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	260					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GCTCCATGTGGATCTGCCAGT	0.652000													10	99					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670136	8670136	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:8670136G>T	ENST00000270328.4	-	3	462	c.196C>A	c.(196-198)Cgc>Agc	p.R66S	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R66S			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	66					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCCGTGCCGCGGCGCTGCCTC	0.682000													4	11					0.150653	0.152316	1	1	0
SLC5A12	159963	broad.mit.edu	37	11	26695068	26695068	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:26695068T>C	ENST00000396005.3	-	14	1897	c.1588A>G	c.(1588-1590)Aga>Gga	p.R530G		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	530					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TCCTCACCTCTTTGGCGACCT	0.368000													16	124					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50967736	50967736	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:50967736G>A	ENST00000357701.5	+	27	3413	c.3362G>A	c.(3361-3363)cGg>cAg	p.R1121Q		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1121	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TACACCTGCCGGGCCGTCAAC	0.632000													5	16					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009326	46009326	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:46009326C>G	ENST00000296137.2	-	8	1705	c.1500G>C	c.(1498-1500)gaG>gaC	p.E500D	FYCO1_ENST00000535325.1_Missense_Mutation_p.E500D	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	500					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCAGCTCCTTCTCCTCCTGTT	0.617000													10	110					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595340	55595340	+	Missense_Mutation	SNP	A	A	C	rs149071266	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:55595340A>C	ENST00000378397.1	+	1	646	c.646A>C	c.(646-648)Acc>Ccc	p.T216P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GATCATCCTCACCTCCTACCT	0.502000										HNSCC(27;0.073)			31	152					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11922625	11922625	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:11922625G>T	ENST00000256720.2	+	7	1241	c.1148G>T	c.(1147-1149)aGg>aTg	p.R383M	LPIN1_ENST00000425416.2_Missense_Mutation_p.R389M|LPIN1_ENST00000449576.2_Missense_Mutation_p.R468M|LPIN1_ENST00000396097.1_Missense_Mutation_p.R113M|LPIN1_ENST00000396098.1_Missense_Mutation_p.R425M|LPIN1_ENST00000396099.1_Missense_Mutation_p.R425M	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	383					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCTCCTTCCAGGAAAAGAGGT	0.517000													14	64					4.36969e-10	6.03376e-10	1	1	0
PTCH1	5727	broad.mit.edu	37	9	98270446	98270446	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:98270446G>T	ENST00000331920.6	-	1	497	c.198C>A	c.(196-198)tcC>tcA	p.S66S	PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000430669.2_Intron|PTCH1_ENST00000437951.1_Intron|PTCH1_ENST00000375274.2_Intron	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	66					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AATGCACCTTGGAAATCTGCT	0.622000													4	18					0.184627	0.186104	1	1	0
RICTOR	253260	broad.mit.edu	37	5	38953162	38953162	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:38953162T>C	ENST00000357387.3	-	29	2852	c.2822A>G	c.(2821-2823)aAt>aGt	p.N941S	RICTOR_ENST00000296782.5_Missense_Mutation_p.N941S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	941					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTGTAGCAAATTGAGACCCCA	0.353000													14	209					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134029825	134029825	+	Missense_Mutation	SNP	C	C	A	rs141547598	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:134029825C>A	ENST00000534548.2	-	29	3893	c.3829G>T	c.(3829-3831)Ggg>Tgg	p.G1277W		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1277					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)		CCAGCCGTCCCGGCCACATCT	0.567000													8	28					0.00307968	0.00328673	1	1	0
TBC1D21	161514	broad.mit.edu	37	15	74178933	74178933	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:74178933G>A	ENST00000300504.2	+	8	840	c.757G>A	c.(757-759)Gat>Aat	p.D253N	TBC1D21_ENST00000535547.2_Missense_Mutation_p.D217N|TBC1D21_ENST00000562056.1_Missense_Mutation_p.D216N	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	253	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						GTCCTTCGATGATGTCTGGAG	0.597000													9	38					0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186299788	186299788	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:186299788G>T	ENST00000439351.1	+	7	1533	c.604G>T	c.(604-606)Gtg>Ttg	p.V202L	DNAJB11_ENST00000265028.3_Missense_Mutation_p.V202L			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	202					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CCTCAGACTAGTGAATGAAGA	0.333000													7	29					0.0293803	0.030189	1	1	0
OR4S2	219431	broad.mit.edu	37	11	55418543	55418543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:55418543C>A	ENST00000312422.2	+	1	164	c.164C>A	c.(163-165)tCa>tAa	p.S55*		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTGTTTAAGTCACCCATGTAT	0.393000													33	144					2.29764e-31	3.98284e-31	1	1	0
SLC12A3	6559	broad.mit.edu	37	16	56906695	56906695	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:56906695C>A	ENST00000438926.2	+	8	1121	c.1092C>A	c.(1090-1092)ctC>ctA	p.L364L	SLC12A3_ENST00000262502.5_Silent_p.L363L|SLC12A3_ENST00000566786.1_Silent_p.L363L|SLC12A3_ENST00000563236.1_Silent_p.L364L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	364					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTGGTGACCTCAAGGTGAGCA	0.597000													27	72					2.12542e-12	3.13448e-12	1	1	0
CHAF1B	8208	broad.mit.edu	37	21	37785246	37785246	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr21:37785246G>C	ENST00000314103.4	+	12	1277	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	376					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TGTGACATTTGAGAAAGATGA	0.453000													6	57					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79817162	79817162	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:79817162C>G	ENST00000331483.4	-	2	469	c.247G>C	c.(247-249)Gac>Cac	p.D83H	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.D83H	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	83	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCCGTGGCGTCCACCTTGGCC	0.607000													11	135					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187444586	187444586	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:187444586C>A	ENST00000406870.2	-	7	2007	c.1641G>T	c.(1639-1641)aaG>aaT	p.K547N	RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.K547N|BCL6_ENST00000450123.2_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	547					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGCGGTCACACTTGTAGGGTT	0.607000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								38	69					1.69901e-12	2.50747e-12	1	1	0
NELL2	4753	broad.mit.edu	37	12	45269077	45269077	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:45269077C>G	ENST00000429094.2	-	2	619	c.115G>C	c.(115-117)Ggg>Cgg	p.G39R	NELL2_ENST00000437801.2_Missense_Mutation_p.G89R|NELL2_ENST00000551601.1_Missense_Mutation_p.G38R|NELL2_ENST00000333837.4_Missense_Mutation_p.G62R|NELL2_ENST00000549027.1_Missense_Mutation_p.G38R|NELL2_ENST00000548826.1_Missense_Mutation_p.G39R|NELL2_ENST00000395487.2_Missense_Mutation_p.G38R|NELL2_ENST00000452445.2_Missense_Mutation_p.G39R	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	39	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GTGGACTCCCCAAGTTCTAAC	0.552000													8	30					0	0	1	0	0
RAB3C	115827	broad.mit.edu	37	5	57913636	57913636	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:57913636G>T	ENST00000282878.4	+	2	360	c.191G>T	c.(190-192)gGg>gTg	p.G64V		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	64					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)		AGCACAGTTGGGATCGATTTC	0.403000													15	29					3.27435e-08	4.28643e-08	1	1	0
GAD2	2572	broad.mit.edu	37	10	26581444	26581444	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:26581444G>T	ENST00000376261.3	+	14	1940	c.1437G>T	c.(1435-1437)gaG>gaT	p.E479D	GAD2_ENST00000259271.3_Missense_Mutation_p.E479D	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	479					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)	AGTTGGCAGAGTATTTATACA	0.403000													32	73					3.11337e-16	4.87689e-16	1	1	0
FLG	2312	broad.mit.edu	37	1	152279619	152279619	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:152279619C>G	ENST00000368799.1	-	3	7778	c.7743G>C	c.(7741-7743)gaG>gaC	p.E2581D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2581	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCACCTCTCAGAGTCTT	0.562000									Ichthyosis				15	355					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174460	63174460	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:63174460C>A	ENST00000322893.7	-	11	3001	c.2733G>T	c.(2731-2733)caG>caT	p.Q911H	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	911	CAD (involved in subunit assembly) (By similarity).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTTTGACTTCCTGCAGTGTGG	0.527000													43	106					2.26627e-22	3.83611e-22	1	1	0
AGMO	392636	broad.mit.edu	37	7	15601562	15601562	+	Translation_Start_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:15601562G>T	ENST00000342526.3	-	0	78					NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase						ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GTGCAGCTCAGAACAAGCTCT	0.453000													13	24					2.27111e-07	2.87417e-07	1	1	0
SEPP1	6414	broad.mit.edu	37	5	42801362	42801362	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:42801362C>A	ENST00000507920.1	-	3	344	c.275G>T	c.(274-276)cGc>cTc	p.R92L	SEPP1_ENST00000511224.1_Silent_p.S202S|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000514985.1_Silent_p.S202S|SEPP1_ENST00000506577.1_Silent_p.S202S			P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	0					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GGTAATGAGGCGATGGAGTTT	0.403000													151	79					4.49239e-65	7.99351e-65	1	1	0
LRRC37B	114659	broad.mit.edu	37	17	30377081	30377081	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:30377081G>T	ENST00000327564.7	+	11	2878	c.2817G>T	c.(2815-2817)gtG>gtT	p.V939V	LRRC37B_ENST00000584368.1_Silent_p.V873V|LRRC37B_ENST00000341671.7_Silent_p.V912V|LRRC37B_ENST00000543378.2_Silent_p.V830V|LRRC37B_ENST00000394713.3_Silent_p.V861V			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	912						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)				CAATATCTGTGACTGTAATAC	0.274000													11	56					0.000151284	0.000171632	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904208	144904208	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:144904208G>T	ENST00000370490.1	+	1	4520	c.265G>T	c.(265-267)Gtg>Ttg	p.V89L	SLITRK2_ENST00000434188.2_Missense_Mutation_p.V89L|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V89L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V89L|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V89L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	89						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)					CTCCAACGCGGTGACTCTTCA	0.473000													16	35					7.05477e-17	1.11987e-16	1	1	0
PBLD	64081	broad.mit.edu	37	10	70043977	70043977	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:70043977C>T	ENST00000358769.2	-	10	1026	c.824G>A	c.(823-825)aGa>aAa	p.R275K	PBLD_ENST00000336578.1_Missense_Mutation_p.R242K|PBLD_ENST00000309049.4_Missense_Mutation_p.R275K	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	275					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGCACCTCCTCTAATGTCAAC	0.463000													37	65					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104122311	104122311	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:104122311C>A	ENST00000369983.3	+	15	2023	c.1763C>A	c.(1762-1764)aCc>aAc	p.T588N		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	588					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATTGACAGCACCGAGGCCCAC	0.493000													18	84					3.52763e-06	4.28674e-06	1	1	0
RNF14	9604	broad.mit.edu	37	5	141358145	141358145	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:141358145C>T	ENST00000394520.2	+	5	893	c.584C>T	c.(583-585)tCa>tTa	p.S195L	RNF14_ENST00000347642.3_Missense_Mutation_p.S195L|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Missense_Mutation_p.S195L|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_Missense_Mutation_p.S69L|RNF14_ENST00000356143.1_Missense_Mutation_p.S195L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	195					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GAATCACTGTCAAATCTGATC	0.428000													4	40					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46351009	46351009	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:46351009C>A	ENST00000245934.7	-	7	921		c.e7+1			NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin						cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GCAGTACTCACTGTACTGGAT	0.567000													8	38					3.09899e-07	3.89985e-07	1	1	0
CCT2	10576	broad.mit.edu	37	12	69983324	69983324	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:69983324C>G	ENST00000543146.2	+	7	847	c.365C>G	c.(364-366)tCa>tGa	p.S122*	CCT2_ENST00000544368.2_Nonsense_Mutation_p.S169*|CCT2_ENST00000299300.6_Nonsense_Mutation_p.S169*	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	169					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ACATTATCCTCAAAACTTCTT	0.358000													11	41					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56332323	56332323	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:56332323C>A	ENST00000262290.4	+	9	1573	c.1257C>A	c.(1255-1257)gcC>gcA	p.A419A	LPO_ENST00000582328.1_Silent_p.A336A|LPO_ENST00000543544.1_Silent_p.A360A|LPO_ENST00000421678.2_Silent_p.A336A	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	419					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCCTGGGAGCCTTCGTGCAGG	0.607000													21	68					3.8784e-16	6.05175e-16	1	1	0
ARSG	22901	broad.mit.edu	37	17	66339807	66339807	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:66339807G>T	ENST00000448504.2	+	3	1077	c.281G>T	c.(280-282)gGc>gTc	p.G94V	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	94					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGCTCACCGGCCGGCTTGGC	0.607000													13	49					0.00010058	0.000114624	1	1	0
NTRK2	4915	broad.mit.edu	37	9	87563493	87563493	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:87563493C>A	ENST00000376214.1	+	18	2819	c.1881C>A	c.(1879-1881)gaC>gaA	p.D627E	NTRK2_ENST00000376213.1_Missense_Mutation_p.D611E|NTRK2_ENST00000323115.4_Missense_Mutation_p.D611E|NTRK2_ENST00000277120.3_Missense_Mutation_p.D627E	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	611	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGGAGGGCGACCCCCTCATCA	0.587000										TSP Lung(25;0.17)			12	39					2.27111e-07	2.87417e-07	1	1	0
CDH6	1004	broad.mit.edu	37	5	31302240	31302240	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:31302240T>A	ENST00000265071.2	+	6	1099	c.834T>A	c.(832-834)ccT>ccA	p.P278P	CDH6_ENST00000514738.1_Silent_p.P223P	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	278	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTAAAACTCCTGAATCTTCTC	0.413000													50	24					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95121298	95121298	+	Splice_Site	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:95121298T>C	ENST00000377028.5	-	2	710	c.295_splice	c.e2-1	p.G99_splice	DCT_ENST00000446125.1_Splice_Site_p.G99_splice	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	99					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CGGCAAAGTTTCCTAGTTCAC	0.438000													17	200					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108300983	108300983	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:108300983C>T	ENST00000295746.8	-	4	500	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	142						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTAATTAATTCATCTATATTG	0.259000													8	123					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167805754	167805754	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:167805754G>A	ENST00000367848.1	-	23	3323	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	ADCY10_ENST00000485964.1_Intron|ADCY10_ENST00000367851.4_Silent_p.I1034I|ADCY10_ENST00000545172.1_Silent_p.I881I			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1034					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGAAATTCAAGATCTTTTCTC	0.333000													7	95					0	0	1	0	0
DHDH	27294	broad.mit.edu	37	19	49447759	49447759	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:49447759G>A	ENST00000221403.2	+	6	930	c.890G>A	c.(889-891)cGc>cAc	p.R297H	DHDH_ENST00000522614.1_Intron|DHDH_ENST00000523250.1_Missense_Mutation_p.R158H	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	297					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GAGTGCCTACGCAAGGGTAAG	0.592000													7	83					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156498300	156498300	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:156498300C>A	ENST00000361170.2	-	36	4684		c.e36+1			NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3						small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGACACATACTGAGAGGCGG	0.557000													12	26					7.07596e-05	8.13292e-05	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8471058	8471058	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:8471058C>T	ENST00000381196.4	-	28	3984	c.3441G>A	c.(3439-3441)ttG>ttA	p.L1147L	PTPRD_ENST00000540109.1_Silent_p.L1147L|PTPRD_ENST00000358503.5_Silent_p.L1125L|PTPRD_ENST00000360074.4_Silent_p.L1134L|PTPRD_ENST00000486161.1_Silent_p.L736L|PTPRD_ENST00000356435.5_Silent_p.L1147L|PTPRD_ENST00000355233.5_Silent_p.L736L|PTPRD_ENST00000397606.3_Silent_p.L726L|PTPRD_ENST00000397611.3_Silent_p.L733L|PTPRD_ENST00000397617.3_Silent_p.L726L|PTPRD_ENST00000537002.1_Silent_p.L733L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1147					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGATTTCTTCAAAGGCACAA	0.378000										TSP Lung(15;0.13)			7	77					0	0	1	0	0
PXMP4	11264	broad.mit.edu	37	20	32295631	32295631	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:32295631G>A	ENST00000409299.3	-	4	612	c.520C>T	c.(520-522)Cac>Tac	p.H174Y	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	174						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GTGGATCGGTGATACTCAAAG	0.577000													11	176					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	158262012	158262012	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:158262012A>T	ENST00000464171.1	+	9	904	c.779A>T	c.(778-780)aAg>aTg	p.K260M	RSRC1_ENST00000312179.6_Missense_Mutation_p.K260M|RSRC1_ENST00000480820.1_Missense_Mutation_p.K318M|RSRC1_ENST00000295930.3_Missense_Mutation_p.K318M|RSRC1_ENST00000475278.2_Missense_Mutation_p.K267M	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	318					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AAATGGTTCAAGAGATTAATT	0.348000													14	77					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11174649	11174649	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:11174649G>T	ENST00000337414.4	-	10	2779	c.1907_splice	c.e10+1	p.S636_splice	ARHGAP6_ENST00000380736.1_Splice_Site_p.S433_splice|ARHGAP6_ENST00000380732.3_Splice_Site_p.S668_splice|ARHGAP6_ENST00000380718.1_Splice_Site_p.S636_splice|ARHGAP6_ENST00000413512.3_Splice_Site_p.S445_splice|ARHGAP6_ENST00000534860.1_Splice_Site_p.S461_splice|ARHGAP6_ENST00000303025.6_Splice_Site_p.S433_splice	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	636					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GAATACTCACGATGATTGGGA	0.448000													7	8					2.0095e-06	2.4627e-06	1	1	0
GOLGB1	2804	broad.mit.edu	37	3	121416859	121416859	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:121416859C>A	ENST00000393667.3	-	13	2621	c.2511G>T	c.(2509-2511)ctG>ctT	p.L837L	GOLGB1_ENST00000340645.5_Silent_p.L832L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	832					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)		GGCTTCTTATCAGGGTACTCT	0.423000													57	121					3.89483e-19	6.38891e-19	1	1	0
CDC25C	995	broad.mit.edu	37	5	137626362	137626362	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:137626362G>C	ENST00000323760.6	-	9	1108	c.830C>G	c.(829-831)tCt>tGt	p.S277C	CDC25C_ENST00000356505.3_Missense_Mutation_p.S247C|CDC25C_ENST00000415130.2_Missense_Mutation_p.S204C|CDC25C_ENST00000348983.3_Missense_Mutation_p.S204C|CDC25C_ENST00000513970.1_Missense_Mutation_p.S277C|CDC25C_ENST00000357274.3_Missense_Mutation_p.S234C|CDC25C_ENST00000514555.1_Missense_Mutation_p.S247C	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	277					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCCTGGTTAGAATCTTCCTC	0.443000													5	58					0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86617752	86617752	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:86617752G>A	ENST00000325875.3	+	3	2183	c.1851G>A	c.(1849-1851)gaG>gaA	p.E617E		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	617					DNA replication	nucleus		p.E617D(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AACACCTTGAGAATCTAAAGA	0.269000													17	41					0	0	1	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53404637	53404637	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:53404637C>A	ENST00000565421.1	-	0	404																											TCCACCTCATCATCATTATCA	0.318000													7	47					0.00198382	0.00212846	1	1	0
GPATCH8	23131	broad.mit.edu	37	17	42477414	42477414	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:42477414C>G	ENST00000434000.1	-	9	2079	c.1797G>C	c.(1795-1797)aaG>aaC	p.K599N	GPATCH8_ENST00000591680.1_Missense_Mutation_p.K677N			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	677						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCTTCTTTTTCTTTTTGTGCC	0.488000													25	148					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74620367	74620367	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:74620367C>G	ENST00000253159.8	+	14	2581	c.2383C>G	c.(2383-2385)Caa>Gaa	p.Q795E	ZNF236_ENST00000320610.9_Missense_Mutation_p.Q797E	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	795					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGCCTCCACTCAAATGCAGGT	0.592000													7	116					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35300370	35300370	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:35300370C>A	ENST00000254457.5	+	5	2574	c.1163C>A	c.(1162-1164)gCg>gAg	p.A388E	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	388					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AACGGTGGGGCGAGCTACGGA	0.677000													5	14					5.9392e-07	7.42768e-07	1	1	0
NXPH2	11249	broad.mit.edu	37	2	139429191	139429191	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:139429191C>A	ENST00000272641.3	-	2	202	c.96G>T	c.(94-96)ctG>ctT	p.L32L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	32	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CTTCCCAATCCAGCCCCTCCG	0.502000													24	68					2.21704e-12	3.26721e-12	1	1	0
LRP5	4041	broad.mit.edu	37	11	68193606	68193606	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:68193606C>T	ENST00000294304.7	+	16	3694	c.3588C>T	c.(3586-3588)gcC>gcT	p.A1196A		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1196	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCGTGTCGCCCACCTCACTG	0.632000													15	67					0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70363367	70363367	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:70363367C>A	ENST00000288071.6	+	8	1025	c.780C>A	c.(778-780)atC>atA	p.I260I	DDX19B_ENST00000568625.1_Silent_p.I151I|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563392.1_Silent_p.I151I|DDX19B_ENST00000563206.1_Silent_p.I265I|DDX19B_ENST00000451014.3_Silent_p.I234I|DDX19B_ENST00000355992.3_Silent_p.I229I|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000393657.2_Silent_p.I151I	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	260	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GCATCCGCATCCAGAGGTAGG	0.527000													6	63					0.00116845	0.00126781	1	1	0
POPDC2	64091	broad.mit.edu	37	3	119367346	119367346	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:119367346C>A	ENST00000493094.1	-	3	1229	c.770G>T	c.(769-771)gGg>gTg	p.G257V	POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Missense_Mutation_p.G257V|POPDC2_ENST00000264231.3_Missense_Mutation_p.G257V|POPDC2_ENST00000538678.1_Missense_Mutation_p.G257V			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	257						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AAAGCGCAGCCCAAACTTAGC	0.532000													26	49					3.28513e-13	4.90943e-13	1	1	0
ZNF259	8882	broad.mit.edu	37	11	116654245	116654245	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:116654245C>A	ENST00000227322.3	-	10	1041		c.e10+1			NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259						cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CAGACTGTTACCTTGAGGAGG	0.458000													23	57					5.26018e-13	7.82044e-13	1	1	0
JAKMIP2	9832	broad.mit.edu	37	5	147021329	147021329	+	Splice_Site	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:147021329T>A	ENST00000265272.5	-	8	1692		c.e8-2		JAKMIP2_ENST00000333010.6_Splice_Site|JAKMIP2_ENST00000507386.1_Splice_Site	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2							Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCGGTCCTGGAAAACAGA	0.363000													7	34					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101740332	101740332	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:101740332C>T	ENST00000261637.4	+	38	5024	c.4850C>T	c.(4849-4851)gCc>gTc	p.A1617V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1617					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATGCCTTATGCCATGACTCCA	0.393000													24	67					0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108549525	108549525	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:108549525G>T	ENST00000295756.6	+	2	246	c.16G>T	c.(16-18)Ggg>Tgg	p.G6W	TRAT1_ENST00000493604.1_3'UTR|TRAT1_ENST00000426646.1_Intron	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	6					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGGAATCTCTGGGTGCCCCTT	0.398000													15	76					4.7546e-09	6.37743e-09	1	1	0
MGAT3	4248	broad.mit.edu	37	22	39884592	39884592	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:39884592T>G	ENST00000341184.6	+	2	1455	c.1240T>G	c.(1240-1242)Ttc>Gtc	p.F414V		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	414					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCCCCTGCACTTCGCCGGCTG	0.642000													5	43					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997177	19997177	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:19997177C>T	ENST00000391403.2	-	1	701	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	200						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTCCATACTTCAGCTTCTTGC	0.343000													10	99					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45389484	45389484	+	Silent	SNP	G	G	T	rs150929259		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:45389484G>T	ENST00000389039.6	-	29	4184	c.3799C>A	c.(3799-3801)Cgg>Agg	p.R1267R	DUOX2_ENST00000603300.1_Silent_p.R1267R			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1267	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACCTTCTTCCGGCTCAGGCTC	0.587000													14	69					0.000151284	0.000171632	1	1	0
ITPKC	80271	broad.mit.edu	37	19	41245390	41245390	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:41245390G>T	ENST00000263370.2	+	7	2010	c.1977G>T	c.(1975-1977)gaG>gaT	p.E659D		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	659						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTGGGCTGAGGGCAACCGTG	0.632000													25	28					1.1804e-14	1.80689e-14	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118469618	118469618	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:118469618G>A	ENST00000311085.8	+	12	2079	c.1999G>A	c.(1999-2001)Gat>Aat	p.D667N	DMXL1_ENST00000539542.1_Missense_Mutation_p.D667N	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	667										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACCAGATGTTGATAACCCAGA	0.388000													5	70					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676818	100676818	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:100676818C>A	ENST00000306151.4	+	3	2185	c.2121C>A	c.(2119-2121)acC>acA	p.T707T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	707	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					AGGCTAGCACCCTTTCAACAA	0.498000													36	706					2.47316e-13	3.70147e-13	1	1	0
OR4D10	390197	broad.mit.edu	37	11	59245668	59245668	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:59245668T>C	ENST00000530162.1	+	1	823	c.766T>C	c.(766-768)Tat>Cat	p.Y256H		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCCTGCATCTATGTCTATGC	0.557000													28	173					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739123	91739123	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:91739123G>A	ENST00000389857.6	-	30	6019	c.5933C>T	c.(5932-5934)cCg>cTg	p.P1978L	CCDC88C_ENST00000331194.7_Missense_Mutation_p.P502L	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1978					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)				GCTCTTGGCCGGAAGCCCCTC	0.706000													6	21					0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95778049	95778049	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:95778049A>C	ENST00000375482.3	+	10	1709	c.1213A>C	c.(1213-1215)Aag>Cag	p.K405Q	FGD3_ENST00000416701.2_Missense_Mutation_p.K405Q|FGD3_ENST00000538555.1_Missense_Mutation_p.K8Q|FGD3_ENST00000337352.6_Missense_Mutation_p.K405Q	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	405	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CTGTGTGCCCAAGCTGCGGCT	0.607000													5	76					0	0	1	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950129	123950129	+	Silent	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:123950129C>G	ENST00000526639.2	+	2	621	c.42C>G	c.(40-42)ctC>ctG	p.L14L	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Silent_p.L14L|SNRNP35_ENST00000412157.2_Silent_p.L19L	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	14					mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ATGATCCACTCAAAGCGGGCA	0.527000													27	55					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55020994	55020994	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:55020994G>A	ENST00000371336.3	+	3	699	c.498G>A	c.(496-498)ctG>ctA	p.L166L	CASS4_ENST00000360314.3_Silent_p.L166L|CASS4_ENST00000434344.1_Silent_p.L166L	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	166					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGGCCTCACTGCCGACTCTGC	0.582000													12	37					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68956723	68956723	+	Splice_Site	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:68956723C>T	ENST00000288368.4	+	8	1118	c.839_splice	c.e8-1	p.R281_splice	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	281	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CATCTTAAGACGGTTGAAGAA	0.383000													20	65					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718375	142718375	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:142718375C>T	ENST00000381779.4	-	2	775	c.550G>A	c.(550-552)Gat>Aat	p.D184N	SLITRK4_ENST00000338017.4_Missense_Mutation_p.D184N|SLITRK4_ENST00000356928.1_Missense_Mutation_p.D184N	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	184						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)					CCTCGTATATCCAGATGGGTC	0.418000													28	44					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76751662	76751662	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:76751662C>T	ENST00000369950.3	-	2	438	c.249G>A	c.(247-249)caG>caA	p.Q83Q	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	83					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCATGGATTCCTGTGGACAGA	0.378000													16	39					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27135347	27135347	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:27135347C>A	ENST00000343060.4	-	1	246	c.185G>T	c.(184-186)gGt>gTt	p.G62V	HOXA1_ENST00000355633.5_Missense_Mutation_p.G62V|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	62						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						gtggGGCGAACCGATCTGCAC	0.642000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	30	76					1.16021e-09	1.58146e-09	1	1	0
KCNK3	3777	broad.mit.edu	37	2	26950582	26950582	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:26950582A>T	ENST00000302909.3	+	2	456	c.331A>T	c.(331-333)Atg>Ttg	p.M111L		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	111					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGTTCTGCATGTTCTACGC	0.617000													27	122					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85994858	85994858	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:85994858C>G	ENST00000373131.1	+	6	1337	c.1174C>G	c.(1174-1176)Cag>Gag	p.Q392E	DACH2_ENST00000373125.4_Missense_Mutation_p.Q405E|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.Q238E|DACH2_ENST00000510272.1_Missense_Mutation_p.Q186E	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTCTCCCTCTCAGATGGATCA	0.453000													3	8					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17211546	17211546	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:17211546G>A	ENST00000261381.6	-	11	2598	c.2514C>T	c.(2512-2514)ctC>ctT	p.L838L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	838					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGGCGCAACGAGGAATTTGG	0.547000													5	65					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783007	140783007	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140783007G>T	ENST00000573521.1	+	1	488	c.488G>T	c.(487-489)gGc>gTc	p.G163V	PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGATGTTGGCGTGAACTCC	0.527000													17	80					3.41278e-10	4.74167e-10	1	1	0
ZNF534	147658	broad.mit.edu	37	19	52942208	52942208	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:52942208T>A	ENST00000332323.6	+	4	1595	c.1534T>A	c.(1534-1536)Tgt>Agt	p.C512S	ZNF534_ENST00000433050.1_Missense_Mutation_p.C499S|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATGTAATGAATGTGGCAAGGT	0.403000													3	14					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75174065	75174065	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:75174065C>A	ENST00000336926.6	-	27	2720	c.2694G>T	c.(2692-2694)ggG>ggT	p.G898G	HIP1_ENST00000434438.2_Silent_p.G847G	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	898	I/LWEQ.|Important for actin binding (By similarity).				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCTCAAATTTCCCTCTGCCTT	0.532000			T	PDGFRB	CMML								5	34					0.014758	0.0152889	1	1	0
BLZF1	8548	broad.mit.edu	37	1	169351408	169351408	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:169351408G>T	ENST00000367808.3	+	6	1329	c.906G>T	c.(904-906)ttG>ttT	p.L302F	BLZF1_ENST00000329281.2_Missense_Mutation_p.L302F			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	302					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ATCACAAGTTGGCAAAAGCAG	0.423000													40	112					3.33393e-15	5.14247e-15	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113308102	113308102	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:113308102T>A	ENST00000297405.5	-	54	8818	c.8574A>T	c.(8572-8574)caA>caT	p.Q2858H	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q2788H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q2818H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q2689H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2858	Sushi 18.					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						TGTGATCCTGTTGACATATCC	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	27					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220091815	220091815	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:220091815C>A	ENST00000366926.3	-	3	901	c.740G>T	c.(739-741)gGa>gTa	p.G247V	SLC30A10_ENST00000536446.1_Missense_Mutation_p.G2V|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	247					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)		CAGGGCATCTCCCATCACATG	0.522000													50	95					1.63038e-21	2.74361e-21	1	1	0
ETAA1	54465	broad.mit.edu	37	2	67631357	67631357	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:67631357A>G	ENST00000272342.5	+	5	1673	c.1543A>G	c.(1543-1545)Act>Gct	p.T515A	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	515						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TACTAACTCTACTGAAGCTTC	0.299000													8	39					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113866356	113866356	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:113866356C>A	ENST00000383673.2	-	4	862	c.432G>T	c.(430-432)caG>caT	p.Q144H	DRD3_ENST00000295881.7_Missense_Mutation_p.Q144H|DRD3_ENST00000467632.1_Missense_Mutation_p.Q144H|DRD3_ENST00000460779.1_Missense_Mutation_p.Q144H	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	144					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GACAGGAGCTCTGTCCCGTGC	0.562000													28	59					1.5548e-18	2.5217e-18	1	1	0
OR11H4	390442	broad.mit.edu	37	14	20711193	20711193	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:20711193C>A	ENST00000315409.2	+	1	296	c.243C>A	c.(241-243)atC>atA	p.I81I		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCCTTGAGATCTGGTATGTGT	0.463000													36	121					3.29498e-33	5.73139e-33	1	1	0
LRP1	4035	broad.mit.edu	37	12	57548025	57548025	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:57548025C>T	ENST00000243077.3	+	7	1342	c.876C>T	c.(874-876)ggC>ggT	p.G292G	LRP1_ENST00000554174.1_Silent_p.G292G	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	292					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCTGACAGGCAACTTCTACT	0.512000													14	119					0	0	1	0	0
DNAJB14	79982	broad.mit.edu	37	4	100867609	100867609	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:100867609C>A	ENST00000442697.2	-	1	274	c.120G>T	c.(118-120)ctG>ctT	p.L40L	DNAJB14_ENST00000471738.1_5'UTR	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	40					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		GGGCCGAGGGCAGTGGGTAGA	0.687000													5	14					1	1	1	1	0
APLP2	334	broad.mit.edu	37	11	130005576	130005576	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:130005576C>T	ENST00000263574.5	+	13	1875	c.1803C>T	c.(1801-1803)ccC>ccT	p.P601P	APLP2_ENST00000278756.7_Silent_p.P611P|APLP2_ENST00000528499.1_Silent_p.P545P|APLP2_ENST00000543137.1_Silent_p.P508P|APLP2_ENST00000338167.5_Silent_p.P601P|APLP2_ENST00000345598.5_Silent_p.P372P|APLP2_ENST00000539648.1_Silent_p.P389P	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	601					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CGTTCCACCCCTTCCACCCCT	0.577000													4	55					0	0	1	0	0
IGFL4	444882	broad.mit.edu	37	19	46543594	46543594	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:46543594C>T	ENST00000377697.1	-	3	204	c.151G>A	c.(151-153)Ggt>Agt	p.G51S	IGFL4_ENST00000595006.1_5'UTR|IGFL4_ENST00000601672.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	51						extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		AGGATGACACCGTCATCACAG	0.607000													8	61					0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72746455	72746455	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:72746455C>G	ENST00000377182.4	+	7	1538	c.921C>G	c.(919-921)ttC>ttG	p.F307L	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	307	MAM 2.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AAGTTGCTTTCAATGGTCCCA	0.398000													9	109					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45431826	45431826	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:45431826G>C	ENST00000361462.2	+	1	385	c.202G>C	c.(202-204)Gcc>Ccc	p.A68P	FAM179B_ENST00000361577.3_Missense_Mutation_p.A68P|FAM179B_ENST00000382233.2_Missense_Mutation_p.A68P			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	68							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTCGCCTCTGGCCTCGGCCCT	0.582000													10	50					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124481557	124481557	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:124481557C>A	ENST00000284288.2	+	1	172	c.105C>A	c.(103-105)gaC>gaA	p.D35E		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	35					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGCCCCTGGACCGGATAGTCA	0.592000													12	33					1.5842e-08	2.10253e-08	1	1	0
CWF19L1	55280	broad.mit.edu	37	10	102003470	102003470	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:102003470G>A	ENST00000354105.4	-	10	1115	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Silent_p.V98V	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	343							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TGCCGATGTTGACCACCAAAT	0.413000													12	253					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113259300	113259300	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:113259300G>A	ENST00000297405.5	-	64	10415	c.10171C>T	c.(10171-10173)Cgc>Tgc	p.R3391C	CSMD3_ENST00000352409.3_Missense_Mutation_p.R3321C|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3351C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3222C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3391	Sushi 27.					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						AGGCAGGTGCGTGTTGTAGAC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	37					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5905683	5905683	+	Silent	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:5905683C>T	ENST00000378961.4	+	5	2226	c.2022C>T	c.(2020-2022)agC>agT	p.S674S		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	674						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGAAATTCAGCCAAAGGGGCT	0.443000													7	32					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237868594	237868594	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:237868594A>C	ENST00000366574.2	+	67	9848	c.9531A>C	c.(9529-9531)aaA>aaC	p.K3177N	RYR2_ENST00000542537.1_Missense_Mutation_p.K3161N|RYR2_ENST00000360064.6_Missense_Mutation_p.K3175N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3177					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	p.K3175K(1)		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)			ATCTGGACAAACATAATATTT	0.388000													3	16					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102501655	102501655	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:102501655A>G	ENST00000413150.2	+	25	2892	c.2837A>G	c.(2836-2838)tAt>tGt	p.Y946C	MAP4K4_ENST00000302217.5_Missense_Mutation_p.Y834C|MAP4K4_ENST00000347699.4_Missense_Mutation_p.Y1031C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.Y830C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.Y1112C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.Y1071C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.Y1064C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.Y950C	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1031	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCAGTAAAATATGAAAGAATC	0.358000													3	11					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628776	84628776	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:84628776G>A	ENST00000284136.6	-	17	2357	c.2314C>T	c.(2314-2316)Cct>Tct	p.P772S	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	772	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ACAGCTCTAGGGAGCTCATCC	0.408000													4	53					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046766	175046766	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:175046766C>G	ENST00000239462.4	+	2	325	c.212C>G	c.(211-213)tCg>tGg	p.S71W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	71					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				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)		GATGGGGCTTCGCTCTTGGCC	0.587000													5	65					0	0	1	0	0
IGKV1-33	28933	broad.mit.edu	37	2	89568176	89568176	+	RNA	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:89568176A>T	ENST00000473726.1	-	0	86																											ATCCTTCCTTACCTGAGAGCC	0.512000													11	73					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616858	77616858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:77616858C>T	ENST00000521891.2	+	2	983	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q179*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q179*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q179*|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	179						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)			GAAGAGTGATCAGTCTGCTTC	0.488000										HNSCC(33;0.089)			16	38					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181271	57181271	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:57181271C>A	ENST00000504228.1	+	6	1708	c.1603C>A	c.(1603-1605)Cgg>Agg	p.R535R	KIAA1211_ENST00000264229.6_Silent_p.R535R|KIAA1211_ENST00000541073.1_Silent_p.R528R			Q6ZU35	K1211_HUMAN	KIAA1211	535										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GACCATGCCCCGGCCCTACAC	0.647000													4	7					0.00909568	0.00950591	1	1	0
GALNT3	2591	broad.mit.edu	37	2	166616013	166616013	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:166616013T>A	ENST00000392701.3	-	5	1681	c.906A>T	c.(904-906)gtA>gtT	p.V302V	GALNT3_ENST00000409882.1_Silent_p.V40V	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	302					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TATCTGGACTTACGACAGCCG	0.398000													10	37					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122426	36122426	+	Nonsense_Mutation	SNP	C	C	A	rs145777410		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:36122426C>A	ENST00000249044.2	+	3	311	c.311C>A	c.(310-312)tCa>tAa	p.S104*		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	104					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TTGTTTCTCTCATATTTTCCT	0.433000													10	71					7.48243e-07	9.29426e-07	1	1	0
SNRNP200	23020	broad.mit.edu	37	2	96953654	96953654	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:96953654C>A	ENST00000323853.5	-	25	3389	c.3312G>T	c.(3310-3312)tgG>tgT	p.W1104C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1104	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TAAGCTGTGCCCAACCTCGGT	0.527000													22	89					7.87624e-14	1.19119e-13	1	1	0
FTMT	94033	broad.mit.edu	37	5	121188124	121188124	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:121188124G>T	ENST00000321339.1	+	1	475	c.466G>T	c.(466-468)Ggg>Tgg	p.G156W		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	156	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTGGGAAAGCGGGCTGCATGC	0.572000													25	82					1.64293e-13	2.46807e-13	1	1	0
XPO1	7514	broad.mit.edu	37	2	61719827	61719827	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:61719827G>A	ENST00000401558.2	-	14	2168	c.1441C>T	c.(1441-1443)Cac>Tac	p.H481Y	XPO1_ENST00000406957.1_Missense_Mutation_p.H481Y|XPO1_ENST00000404992.2_Missense_Mutation_p.H481Y	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	481	Interaction with RANBP3.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			ACTTGATTGTGAAGCTTCTCT	0.353000			Mis		CLL								6	54					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77418751	77418751	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:77418751G>C	ENST00000451710.3	-	15	1927	c.1690C>G	c.(1690-1692)Cac>Gac	p.H564D	TRPM6_ENST00000449912.2_Missense_Mutation_p.H559D|TRPM6_ENST00000376864.4_Missense_Mutation_p.H564D|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.H559D|TRPM6_ENST00000360774.1_Missense_Mutation_p.H564D			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	564					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AACTGGGAGTGCAGCGTACTT	0.413000													39	102					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26343750	26343750	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:26343750G>A	ENST00000335473.7	+	36	5954	c.5704G>A	c.(5704-5706)Gac>Aac	p.D1902N	MYO18B_ENST00000536101.1_Missense_Mutation_p.D1902N|MYO18B_ENST00000407587.2_Missense_Mutation_p.D1903N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1902	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCAGGATGACCTGAATGA	0.562000													16	32					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084072	9084072	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:9084072G>T	ENST00000397910.4	-	1	7946	c.7743C>A	c.(7741-7743)ccC>ccA	p.P2581P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2581	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCAGAGGTGGGTGTAGTTG	0.483000													31	60					3.86903e-22	6.52716e-22	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46774958	46774958	+	Silent	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:46774958A>G	ENST00000529230.1	-	37	5005	c.4959T>C	c.(4957-4959)tcT>tcC	p.S1653S	CKAP5_ENST00000354558.3_Silent_p.S1593S|CKAP5_ENST00000415402.1_Silent_p.S1653S|CKAP5_ENST00000312055.5_Silent_p.S1593S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1653					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTTCAATCCGAGAATCCAGCA	0.502000													20	89					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917986	26917986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:26917986C>A	ENST00000539517.2	-	5	1020	c.703G>T	c.(703-705)Gaa>Taa	p.E235*	NOVA1_ENST00000267422.7_Nonsense_Mutation_p.E113*|NOVA1_ENST00000465357.2_Nonsense_Mutation_p.E211*	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	238	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATGATAAGTTCAACAGCTTTT	0.468000													39	109					3.21399e-22	5.42664e-22	1	1	0
ZNF844	284391	broad.mit.edu	37	19	12186396	12186396	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:12186396C>T	ENST00000439326.3	+	4	636	c.461C>T	c.(460-462)cCc>cTc	p.P154L	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AGATGTCACCCCTCCTTTCAA	0.418000													7	58					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449777	85449777	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:85449777G>C	ENST00000393217.2	+	8	1267	c.1206G>C	c.(1204-1206)aaG>aaC	p.K402N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	402										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CATTAAAGAAGAGCGGATATA	0.308000													19	73					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137259	32137259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:32137259C>T	ENST00000312561.4	+	4	3784	c.3370C>T	c.(3370-3372)Caa>Taa	p.Q1124*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		ACAGGATGATCAACCCTATGT	0.423000													7	153					0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927990	92927990	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:92927990C>G	ENST00000373079.3	-	1	577	c.314G>C	c.(313-315)aGa>aCa	p.R105T	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	105					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CACACGATTTCTAACTGCCTG	0.463000													4	25					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100421853	100421853	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:100421853C>A	ENST00000358173.3	-	2	563	c.95G>T	c.(94-96)tGg>tTg	p.W32L	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.W32L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	32					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)					GAATGTCACCCACTTCAGATC	0.597000													19	115					1.96292e-10	2.74618e-10	1	1	0
TENM3	55714	broad.mit.edu	37	4	183635317	183635317	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:183635317G>T	ENST00000511685.1	+	13	2422	c.2299G>T	c.(2299-2301)Gga>Tga	p.G767*	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Nonsense_Mutation_p.G767*					teneurin transmembrane protein 3																		GTGCCAGCCTGGATGGAGAGG	0.502000													6	43					0.0293803	0.030189	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120462957	120462957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:120462957G>A	ENST00000256646.2	-	30	5593	c.5374C>T	c.(5374-5376)Cag>Tag	p.Q1792*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1792					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAGGTGCTGCTGTGTCCAT	0.537000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				25	50					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814290	106814290	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:106814290T>A	ENST00000407775.2	+	8	2230	c.1980T>A	c.(1978-1980)gaT>gaA	p.D660E	ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.D391E|ZFPM2_ENST00000520492.1_Missense_Mutation_p.D528E|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.D528E|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	660					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTAACAATGATGACAAAATTA	0.423000													20	35					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153065884	153065884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:153065884C>T	ENST00000285900.5	+	8	1472	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	GRIA1_ENST00000518783.1_Nonsense_Mutation_p.R387*|GRIA1_ENST00000340592.5_Nonsense_Mutation_p.R377*|GRIA1_ENST00000521843.2_Nonsense_Mutation_p.R308*|GRIA1_ENST00000518142.1_Nonsense_Mutation_p.R297*|GRIA1_ENST00000448073.4_Nonsense_Mutation_p.R387*	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	377					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.R377*(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGACGGCATCCGAAAGGTAAG	0.512000													9	31					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10539066	10539066	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:10539066C>T	ENST00000583535.1	-	29	4048	c.3961G>A	c.(3961-3963)Gag>Aag	p.E1321K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1321K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1321					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTCTTCCTCCAGCTGCCTC	0.428000													15	161					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245178	46245178	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:46245178G>C	ENST00000334344.6	+	15	3444	c.3272G>C	c.(3271-3273)aGa>aCa	p.R1091T	ARID2_ENST00000444670.1_Missense_Mutation_p.R701T|ARID2_ENST00000422737.1_Missense_Mutation_p.R942T|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1091	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATAATGCAAGAGCTCCTAGC	0.527000			"""N, S, F"""		hepatocellular carcinoma								14	88					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724774	112724774	+	Translation_Start_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:112724774C>A	ENST00000501255.2	-	3	626	c.3G>T	c.(1-3)atG>atT	p.M1I	GPR85_ENST00000424100.1_Start_Codon_SNP_p.M1I|GPR85_ENST00000449591.1_Start_Codon_SNP_p.M1I|GPR85_ENST00000297146.2_Start_Codon_SNP_p.M1I	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	1						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TATAGTTCGCCATAGATGGAT	0.393000													8	26					0.00448238	0.00477868	1	1	0
VWC2	375567	broad.mit.edu	37	7	49815505	49815505	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:49815505G>T	ENST00000340652.3	+	2	1030	c.474G>T	c.(472-474)gaG>gaT	p.E158D		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	158	VWFC 1.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GCGTGGACGAGAGCGGCTTCG	0.726000													3	9					0.00024832	0.000277964	1	1	0
RAI1	10743	broad.mit.edu	37	17	17697997	17697997	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:17697997C>G	ENST00000353383.1	+	3	2204	c.1735C>G	c.(1735-1737)Ctg>Gtg	p.L579V	RAI1_ENST00000261641.6_Missense_Mutation_p.L579V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	579						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACACGGCAGTCTGCCGCTCGA	0.632000													6	99					0	0	1	0	0
MRP63	78988	broad.mit.edu	37	13	21751066	21751066	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:21751066C>T	ENST00000309594.4	+	2	89	c.11C>T	c.(10-12)aCt>aTt	p.T4I		NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN	mitochondrial ribosomal protein 63	4										kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		ATGTTCCTGACTGCGCTCCTC	0.701000													13	43					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34266712	34266712	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:34266712C>A	ENST00000346562.2	+	10	1329	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M	NPAS3_ENST00000356141.4_Missense_Mutation_p.L451M|NPAS3_ENST00000551492.1_Missense_Mutation_p.L456M|NPAS3_ENST00000548645.1_Missense_Mutation_p.L421M|NPAS3_ENST00000357798.5_Missense_Mutation_p.L438M	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCTCCCCCATCTGCCGGAGAA	0.507000													38	93					8.73648e-17	1.38465e-16	1	1	0
SERPINA9	327657	broad.mit.edu	37	14	94936106	94936106	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:94936106G>T	ENST00000337425.5	-	2	200	c.126C>A	c.(124-126)gcC>gcA	p.A42A	SERPINA9_ENST00000380365.3_Silent_p.A24A|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000298845.7_Silent_p.A42A	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	24					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TGGGGGCATTGGCCGGGGACA	0.527000													24	64					5.35356e-11	7.61126e-11	1	1	0
MGAT4B	11282	broad.mit.edu	37	5	179227540	179227540	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:179227540G>C	ENST00000337755.5	-	5	1594	c.708C>G	c.(706-708)ttC>ttG	p.F236L	MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Missense_Mutation_p.F221L	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	221					N-glycan processing|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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCAGGGTAGAAGTGGGGGG	0.627000													3	19					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143412140	143412140	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:143412140C>G	ENST00000316549.6	-	5	751	c.543G>C	c.(541-543)atG>atC	p.M181I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	181					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CAAAACCATACATAATTAACC	0.378000													15	39					0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72851107	72851107	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:72851107G>T	ENST00000293190.5	-	2	271	c.125C>A	c.(124-126)cCc>cAc	p.P42H	GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Missense_Mutation_p.P42H	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	42					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CTGGGCCTGGGGCGGCCCTGA	0.682000													9	26					2.74318e-10	3.82981e-10	1	1	0
HNRNPU	3192	broad.mit.edu	37	1	245027438	245027438	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:245027438C>A	ENST00000444376.2	-	1	406	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C	HNRNPU_ENST00000283179.9_Missense_Mutation_p.G58C	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	58	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TCTAGGCTGCCGTTCCCGGGC	0.706000													7	18					2.0095e-06	2.4627e-06	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11603084	11603084	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:11603084G>T	ENST00000262442.3	+	23	4977	c.4909G>T	c.(4909-4911)Gcc>Tcc	p.A1637S	DNAH9_ENST00000454412.2_Missense_Mutation_p.A1637S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1637	Stem (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)		TGACAACATGGCCAAGATGCG	0.473000													17	31					1.99824e-07	2.55288e-07	1	1	0
ANKAR	150709	broad.mit.edu	37	2	190585481	190585481	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:190585481C>T	ENST00000520309.1	+	12	2691	c.2603C>T	c.(2602-2604)cCa>cTa	p.P868L	ANKAR_ENST00000431575.2_Missense_Mutation_p.P797L|ANKAR_ENST00000313581.4_Missense_Mutation_p.P868L|ANKAR_ENST00000281412.6_Missense_Mutation_p.P632L|ANKAR_ENST00000438402.2_Missense_Mutation_p.P868L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	868						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAAGGCCTCCCATATCTTATC	0.338000													16	184					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8931286	8931286	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:8931286C>A	ENST00000256707.3	-	13	1526	c.1345G>T	c.(1345-1347)Gat>Tat	p.D449Y	KIDINS220_ENST00000418530.1_Missense_Mutation_p.D407Y|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D449Y|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D449Y|KIDINS220_ENST00000319688.5_Missense_Mutation_p.D450Y	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	449	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGAGAATATCTGCCAGGGCA	0.413000													6	69					0.00116845	0.00126781	1	1	0
POC5	134359	broad.mit.edu	37	5	74988263	74988263	+	Silent	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:74988263T>A	ENST00000428202.2	-	7	942	c.753A>T	c.(751-753)acA>acT	p.T251T	POC5_ENST00000514838.2_Silent_p.T223T|POC5_ENST00000446329.2_Silent_p.T226T|POC5_ENST00000380475.2_Silent_p.T134T|POC5_ENST00000510798.1_Silent_p.T134T	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	251					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGTGGAAGAATGTTCTCATCA	0.408000													26	59					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10132239	10132239	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:10132239A>G	ENST00000343090.6	+	2	253	c.178A>G	c.(178-180)Atg>Gtg	p.M60V	UBE4B_ENST00000377153.1_Missense_Mutation_p.M60V|UBE4B_ENST00000253251.8_Missense_Mutation_p.M60V|UBE4B_ENST00000377157.3_5'UTR	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	60					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGTCCACAACATGACCCCAGC	0.537000													12	66					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189931462	189931462	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:189931462C>A	ENST00000374866.3	-	22	1722	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	483					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TACTGGTTCCCCTTTTGGGCC	0.363000													26	72					3.73988e-18	6.03168e-18	1	1	0
SETDB1	9869	broad.mit.edu	37	1	150933357	150933357	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:150933357C>T	ENST00000271640.5	+	16	3009	c.2819C>T	c.(2818-2820)tCt>tTt	p.S940F	SETDB1_ENST00000368969.4_Missense_Mutation_p.S940F|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	940	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AACGGACTCTCTGAGACAACT	0.557000													16	135					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30585221	30585221	+	Silent	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr20:30585221G>T	ENST00000217299.3	+	3	1875	c.1701G>T	c.(1699-1701)ggG>ggT	p.G567G		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	567						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGAGTGTGGGGACTTCCCAGG	0.597000													24	48					3.6726e-16	5.73951e-16	1	1	0
AUTS2	26053	broad.mit.edu	37	7	69064861	69064861	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:69064861G>A	ENST00000342771.4	+	1	543	c.222G>A	c.(220-222)cgG>cgA	p.R74R	AUTS2_ENST00000403018.2_Silent_p.R74R|AUTS2_ENST00000406775.2_Silent_p.R74R	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	74										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACCCCCGCGGAGGAAGCGGA	0.647000													4	22					0	0	1	0	0
TJAP1	93643	broad.mit.edu	37	6	43469299	43469299	+	Missense_Mutation	SNP	G	G	T	rs140868873	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:43469299G>T	ENST00000372444.2	+	7	597	c.164G>T	c.(163-165)cGc>cTc	p.R55L	TJAP1_ENST00000372449.1_Missense_Mutation_p.R55L|TJAP1_ENST00000438588.2_Missense_Mutation_p.R55L|TJAP1_ENST00000436109.2_Missense_Mutation_p.R55L|TJAP1_ENST00000372445.5_Missense_Mutation_p.R55L|TJAP1_ENST00000259751.1_Missense_Mutation_p.R55L|TJAP1_ENST00000372452.1_Missense_Mutation_p.R55L|TJAP1_ENST00000483640.1_3'UTR	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	55						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTTCGCCGGCGCCTGGCCTCC	0.632000													25	43					3.73808e-20	6.22293e-20	1	1	0
ENGASE	64772	broad.mit.edu	37	17	77081773	77081773	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:77081773G>C	ENST00000579016.1	+	13	1772	c.1772G>C	c.(1771-1773)aGt>aCt	p.S591T		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	591						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCGCCGGGTAGTCGGGAGGAG	0.647000													7	32					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6716210	6716210	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:6716210G>C	ENST00000338694.2	-	6	921	c.792C>G	c.(790-792)ttC>ttG	p.F264L	TEKT1_ENST00000535086.1_Missense_Mutation_p.F118L	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	264					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GCCCATTCTTGAATGCCGTGT	0.537000													6	110					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967473	81967473	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr4:81967473A>T	ENST00000282701.2	+	2	1218	c.898A>T	c.(898-900)Aac>Tac	p.N300Y		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	300					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCTGCAGAACAACGAGCTTCC	0.522000													12	52					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99967953	99967953	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:99967953G>T	ENST00000298999.3	+	5	385	c.82G>T	c.(82-84)Gca>Tca	p.A28S	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.A28S|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		TCGTAGGGGTGCAGTACTCCT	0.453000													13	42					5.50884e-06	6.63826e-06	1	1	0
RYR3	6263	broad.mit.edu	37	15	34078113	34078113	+	Silent	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:34078113G>A	ENST00000389232.4	+	66	9589	c.9519G>A	c.(9517-9519)ctG>ctA	p.L3173L	RYR3_ENST00000415757.3_Silent_p.L3173L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3173					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCTCATCCTGGGCAACATTC	0.577000													48	133					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767250	77767250	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:77767250A>C	ENST00000521891.2	+	10	8541	c.8093A>C	c.(8092-8094)cAc>cCc	p.H2698P	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2653P|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2672P|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2653P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2653						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)			CGCTCTCGGCACTGGAATGAA	0.507000										HNSCC(33;0.089)			23	43					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559471	46559471	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:46559471C>A	ENST00000242848.4	-	10	2029	c.1681G>T	c.(1681-1683)Ggc>Tgc	p.G561C	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G561C			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	561	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|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;4.18e-05)		CTACTTCGGCCCATTCGGTCA	0.393000													22	59					1.55469e-16	2.45056e-16	1	1	0
CDH12	1010	broad.mit.edu	37	5	21752244	21752244	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:21752244C>T	ENST00000382254.1	-	15	3073	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	CDH12_ENST00000522262.1_Missense_Mutation_p.E623K|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.E663K|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	663					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCACCTCCTTCATCATCGTAA	0.453000										HNSCC(59;0.17)			13	150					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810091	31810091	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:31810091G>A	ENST00000446923.2	+	7	2171	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	ZEB1_ENST00000560721.2_Missense_Mutation_p.E590K|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.E611K|ZEB1_ENST00000542815.3_Missense_Mutation_p.E543K|ZEB1_ENST00000320985.10_Missense_Mutation_p.E610K	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	610					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAGTGCAGAAGAGCTCTCAAA	0.403000													13	104					0	0	1	0	0
MIR196A2	406973	broad.mit.edu	37	12	54385556	54385556	+	RNA	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:54385556C>A	ENST00000385189.1	+	0	35					NR_029617.1																						TAGGTAGTTTCATGTTGTTGG	0.517000													7	19					1.12685e-05	1.34422e-05	1	1	0
ZNF493	284443	broad.mit.edu	37	19	21606007	21606007	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:21606007C>G	ENST00000392288.2	+	4	655	c.546C>G	c.(544-546)ttC>ttG	p.F182L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.F54L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGAAACCTTTCAAATGTAAAA	0.294000													11	119					0	0	1	0	0
RAB26	25837	broad.mit.edu	37	16	2203150	2203150	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:2203150T>C	ENST00000210187.6	+	8	755	c.595T>C	c.(595-597)Tat>Cat	p.Y199H	RAB26_ENST00000541451.1_Missense_Mutation_p.Y133H	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	199					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						TTTACAGGAGTATGGACTGCC	0.637000													5	65					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687430	68687430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:68687430G>A	ENST00000361320.4	+	2	1334	c.756G>A	c.(754-756)tgG>tgA	p.W252*	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	252						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCTGGACCTGGAGCTCCTTAC	0.493000													8	135					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242129564	242129564	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:242129564G>C	ENST00000274979.8	+	2	351	c.248G>C	c.(247-249)gGg>gCg	p.G83A	ANO7_ENST00000402430.3_Missense_Mutation_p.G83A|ANO7_ENST00000402530.3_Missense_Mutation_p.G83A	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	83						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GGCTCTTACGGGAGCACAGCC	0.667000													3	3					0	0	1	0	0
LOC647323	647323	broad.mit.edu	37	3	193711269	193711269	+	RNA	SNP	C	C	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:193711269C>T	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						GCACCCAGGCCTGATCTGCAT	0.502000													17	25					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774430	140774430	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140774430C>A	ENST00000398604.2	+	1	2050	c.2050C>A	c.(2050-2052)Ccg>Acg	p.P684T	PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGTCGACCCGAACGATTC	0.617000													8	52					5.18039e-06	6.26871e-06	1	1	0
GLIPR2	152007	broad.mit.edu	37	9	36147844	36147844	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr9:36147844C>A	ENST00000377960.4	+	2	109	c.75C>A	c.(73-75)ggC>ggA	p.G25G	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Silent_p.G25G	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	25						extracellular region|Golgi membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						AGAAGCACGGCGTCCCCCCAC	0.537000													79	194					3.24273e-39	5.71446e-39	1	1	0
C3orf30	152405	broad.mit.edu	37	3	118865680	118865680	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:118865680C>A	ENST00000295622.1	+	1	684	c.644C>A	c.(643-645)tCc>tAc	p.S215Y		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	215										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CACAGATTATCCAAACTATCT	0.502000													40	97					2.19962e-31	3.81621e-31	1	1	0
SEMA4F	10505	broad.mit.edu	37	2	74907119	74907119	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:74907119G>T	ENST00000357877.2	+	14	2245	c.2096G>T	c.(2095-2097)gGc>gTc	p.G699V	SEMA4F_ENST00000339773.5_Missense_Mutation_p.G544V	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	699					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACAAGGTGGGCCTGGACCTG	0.612000													13	84					4.3838e-07	5.49269e-07	1	1	0
ELN	2006	broad.mit.edu	37	7	73459565	73459565	+	Silent	SNP	C	C	T	rs150690195		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr7:73459565C>T	ENST00000252034.7	+	10	882	c.483C>T	c.(481-483)ccC>ccT	p.P161P	ELN_ENST00000380576.5_Silent_p.P161P|ELN_ENST00000320492.7_Silent_p.P149P|ELN_ENST00000458204.1_Silent_p.P151P|ELN_ENST00000445912.1_Silent_p.P161P|ELN_ENST00000429192.1_Silent_p.P166P|ELN_ENST00000380562.4_Silent_p.P161P|ELN_ENST00000414324.1_Silent_p.P156P|ELN_ENST00000380584.4_Silent_p.P161P|ELN_ENST00000380553.4_Intron|ELN_ENST00000358929.4_Silent_p.P161P|ELN_ENST00000357036.5_Silent_p.P166P|ELN_ENST00000380575.4_Silent_p.P151P|ELN_ENST00000320399.6_Silent_p.P161P	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	161					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTCGGTTCCCCGGTGTGGGGG	0.652000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						6	34					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68154173	68154173	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:68154173G>T	ENST00000294304.7	+	6	1511	c.1405G>T	c.(1405-1407)Gtg>Ttg	p.V469L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	469	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACTGCACCCCGTGATGGGGTA	0.677000													8	24					0.0381472	0.0390578	1	1	0
KCNK3	3777	broad.mit.edu	37	2	26950927	26950927	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:26950927G>T	ENST00000302909.3	+	2	801	c.676G>T	c.(676-678)Gtc>Ttc	p.V226F		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	226					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCAGCTTCGTCTACATCCT	0.632000													5	27					1.23904e-05	1.46677e-05	1	1	0
SOX9	6662	broad.mit.edu	37	17	70119947	70119947	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:70119947G>T	ENST00000245479.2	+	3	1321	c.949G>T	c.(949-951)Ggc>Tgc	p.G317C		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	317					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CACCTACACGGGCAGCTACGG	0.711000													10	38					9.70103e-10	1.32952e-09	1	1	0
USP11	8237	broad.mit.edu	37	X	47101481	47101481	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:47101481G>T	ENST00000377107.2	+	10	1534	c.1179_splice	c.e10-1	p.E394_splice	USP11_ENST00000218348.3_Splice_Site_p.E437_splice			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	437					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTATCAACAGGAGGTGGCACA	0.572000													3	6					0.004672	0.00494163	1	1	0
PDE4B	5142	broad.mit.edu	37	1	66834571	66834571	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:66834571G>C	ENST00000423207.2	+	14	2204	c.1719G>C	c.(1717-1719)caG>caC	p.Q573H	PDE4B_ENST00000480109.2_Missense_Mutation_p.Q355H|PDE4B_ENST00000329654.4_Missense_Mutation_p.Q588H|PDE4B_ENST00000371049.3_Missense_Mutation_p.Q588H|PDE4B_ENST00000371045.5_Missense_Mutation_p.Q416H	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	588					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AATTTTTCCAGCAGGGAGACA	0.468000													5	58					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27259981	27259981	+	Nonstop_Mutation	SNP	G	G	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:27259981G>T	ENST00000361042.4	+	10	1724	c.1499G>T	c.(1498-1500)tGa>tTa	p.*500L	WASF3_ENST00000335327.5_Nonstop_Mutation_p.*503L			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	0					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGGTCCGACTGAGCAAAGGCC	0.567000													7	28					0.00198382	0.00212846	1	1	0
ATM	472	broad.mit.edu	37	11	108124589	108124589	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:108124589A>T	ENST00000278616.4	+	13	2332	c.1947A>T	c.(1945-1947)gaA>gaT	p.E649D	ATM_ENST00000452508.2_Missense_Mutation_p.E649D	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	649					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CAGAAGTAGAAGAACTATTTC	0.353000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			34	56					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46544582	46544582	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr13:46544582T>A	ENST00000242848.4	-	13	2835	c.2487A>T	c.(2485-2487)gaA>gaT	p.E829D	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E829D			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	829	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|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;4.18e-05)		TGGGACTCCCTTCATTTCTAT	0.418000													19	117					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730782	21730782	+	Silent	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:21730782C>A	ENST00000584755.1	+	2	481	c.84C>A	c.(82-84)gcC>gcA	p.A28A	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Silent_p.A28A																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATGTCAAAGCCAAAATCCAAG	0.478000													8	18					0.0381472	0.0390578	1	1	0
DNAJC17	55192	broad.mit.edu	37	15	41066554	41066554	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:41066554C>A	ENST00000220496.4	-	9	711	c.681_splice	c.e9+1	p.A227_splice		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	227	RRM.				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CAGCACTCACCGCTGCCTTGA	0.587000													41	142					1.7489e-18	2.83196e-18	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12409389	12409390	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:12409389_12409390delGA	ENST00000358136.3	+	46	9519_9520	c.9389_9390delGA	c.(9388-9390)cfs	p.R3130fs	VPS13D_ENST00000356315.4_Frame_Shift_Del_p.R3105fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3129					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCAGTAAACGAGAGTGCCACT	0.436													21	116	---	---	---	---					
PAX7	5081	broad.mit.edu	37	1	18961628	18961629	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:18961628_18961629insA	ENST00000420770.2	+	3	428_429	c.345_346insA	c.(343-348)gaaaaafs	p.EK115fs	PAX7_ENST00000400661.3_Frame_Shift_Ins_p.EK115fs|PAX7_ENST00000375375.3_Frame_Shift_Ins_p.EK115fs	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	115	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CGGATGTAGAGAAAAAGATTGA	0.525			T	FOXO1A	alveolar rhabdomyosarcoma								10	80	---	---	---	---					
USP24	23358	broad.mit.edu	37	1	55572930	55572930	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:55572930delC	ENST00000294383.6	-	40	4743	c.4744delG	c.(4744-4746)cafs	p.A1582fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.A1422fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1582					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TCCTTTTCTGCCCCACAGAGT	0.453													9	76	---	---	---	---					
HSD3B1	3283	broad.mit.edu	37	1	120056632	120056632	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:120056632delT	ENST00000235547.6	+	4	631	c.492delT	c.(490-492)gcfs	p.A164fs	HSD3B1_ENST00000369413.3_Frame_Shift_Del_p.A162fs|HSD3B1_ENST00000528909.1_Frame_Shift_Del_p.A162fs	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	162					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	AAAAGCTTGCTGAGAAGGCTG	0.532													61	127	---	---	---	---					
LCE2B	26239	broad.mit.edu	37	1	152659544	152659544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:152659544delC	ENST00000368780.3	+	2	279	c.225delC	c.(223-225)cafs	p.H76fs	LCE2B_ENST00000417924.2_Frame_Shift_Del_p.H76fs	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	76	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGAGCCACCACAGGCCCC	0.672													33	223	---	---	---	---					
CD46	4179	broad.mit.edu	37	1	207940411	207940411	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:207940411delG	ENST00000358170.2	+	6	883	c.727delG	c.(727-729)gafs	p.G243fs	CD46_ENST00000480003.1_Frame_Shift_Del_p.G243fs|CD46_ENST00000354848.1_Frame_Shift_Del_p.G243fs|CD46_ENST00000322875.4_Frame_Shift_Del_p.G243fs|CD46_ENST00000367047.1_Frame_Shift_Del_p.G180fs|CD46_ENST00000367042.1_Frame_Shift_Del_p.G243fs|CD46_ENST00000441839.2_Frame_Shift_Del_p.G243fs|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000357714.1_Frame_Shift_Del_p.G243fs|CD46_ENST00000367041.1_Frame_Shift_Del_p.G243fs|CD46_ENST00000360212.2_Frame_Shift_Del_p.G243fs|CD46_ENST00000322918.5_Frame_Shift_Del_p.G243fs|CD46_ENST00000361067.1_Frame_Shift_Del_p.G243fs	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	243	Sushi 4.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						ATCAGGATTTGGAAAAAAATT	0.363													16	68	---	---	---	---					
C1orf101	257044	broad.mit.edu	37	1	244724429	244724430	+	Frame_Shift_Ins	INS	-	-	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr1:244724429_244724430insT	ENST00000366534.4	+	10	1543_1544	c.1489_1490insT	c.(1489-1491)tcafs	p.S497fs	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Frame_Shift_Ins_p.S346fs|C1orf101_ENST00000366533.4_Frame_Shift_Ins_p.S497fs	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	497						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TGACAGCATTATTCATGAAGTT	0.327													8	183	---	---	---	---					
STARD7-AS1	285033	broad.mit.edu	37	2	96883729	96883729	+	RNA	DEL	T	T	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:96883729delT	ENST00000446816.1	+	0	564																											ggcaaaagtatttttccttct	0.473													2	4	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179443932	179443933	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:179443932_179443933insA	ENST00000589042.1	-	320	68048_68049	c.67824_67825insT	c.(67822-67827)cttagtfs	p.S22609fs	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.S20041fs|TTN_ENST00000359218.5_Frame_Shift_Ins_p.S13669fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.S20968fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.S13736fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.S13544fs|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20968	Fibronectin type-III 64.						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)			TCGTACACTATAAGAGTTGTGT	0.441													8	96	---	---	---	---					
COL3A1	1281	broad.mit.edu	37	2	189866280	189866280	+	Frame_Shift_Del	DEL	G	G	-	rs113485686		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:189866280delG	ENST00000304636.3	+	34	2526	c.2356delG	c.(2356-2358)gafs	p.G786fs	COL3A1_ENST00000317840.5_Frame_Shift_Del_p.G786fs	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	786	Triple-helical region.		G -> R (in AAA).		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)	TGGTGCCCCCGGACTTCCAGG	0.438													10	121	---	---	---	---					
SATB2	23314	broad.mit.edu	37	2	200245187	200245187	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:200245187delG	ENST00000443023.1	-	4	1785	c.320delC	c.(319-321)ctfs	p.P107fs	SATB2_ENST00000457245.1_Frame_Shift_Del_p.P166fs|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000260926.5_Frame_Shift_Del_p.P166fs|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000417098.1_Frame_Shift_Del_p.P166fs			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	166						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGCTCCGCAGGCAAGTCTTC	0.493													17	81	---	---	---	---					
BARD1	580	broad.mit.edu	37	2	215632364	215632366	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr2:215632364_215632366delATT	ENST00000260947.4	-	6	1542_1544	c.1408_1410delAAT	c.(1408-1410)del	p.N470del	BARD1_ENST00000449967.2_In_Frame_Del_p.N326del	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	470					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)		GGTGCCCATGATTGCAAGCTTCA	0.365									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				7	39	---	---	---	---					
TIMP4	7079	broad.mit.edu	37	3	12198946	12198946	+	Frame_Shift_Del	DEL	G	G	-	rs77838721		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr3:12198946delG	ENST00000287814.4	-	2	686	c.176delC	c.(175-177)cgfs	p.P59fs	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	59	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						TGCACTGGCCGGAACTACCTT	0.522													10	24	---	---	---	---					
NPR3	4883	broad.mit.edu	37	5	32786414	32786414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:32786414delG	ENST00000265074.8	+	8	1932	c.1589delG	c.(1588-1590)cgfs	p.R530fs	NPR3_ENST00000434067.2_Frame_Shift_Del_p.R314fs|NPR3_ENST00000415685.2_Frame_Shift_Del_p.R313fs|NPR3_ENST00000415167.2_Frame_Shift_Del_p.R529fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	530					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CGGGAATTACGGGAAGATTCC	0.418													16	8	---	---	---	---					
CARD6	84674	broad.mit.edu	37	5	40852696	40852697	+	Frame_Shift_Ins	INS	-	-	G			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:40852696_40852697insG	ENST00000254691.5	+	3	1461_1462	c.1262_1263insG	c.(1261-1263)cggfs	p.R421fs	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	421					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATCTTAATGCTGGGGGCCATGA	0.460													70	67	---	---	---	---					
PCDHB1	29930	broad.mit.edu	37	5	140432654	140432654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140432654delG	ENST00000306549.3	+	1	1676	c.1599delG	c.(1597-1599)aafs	p.K533fs		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		533	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGTGGTAAAGGCAACTGATG	0.443													11	42	---	---	---	---					
PCDHB3	56132	broad.mit.edu	37	5	140482185	140482186	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr5:140482185_140482186delCG	ENST00000231130.2	+	1	1952_1953	c.1952_1953delCG	c.(1951-1953)cfs	p.P651fs		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		651	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGCCTCCGCGCTCGGCCA	0.713													22	52	---	---	---	---					
SOBP	55084	broad.mit.edu	37	6	107955603	107955603	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:107955603delC	ENST00000317357.5	+	6	2214	c.1555delC	c.(1555-1557)cgfs	p.P521fs		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	521	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCCGCTGGTGCCGCCCCCGAC	0.672													6	9	---	---	---	---					
IL22RA2	116379	broad.mit.edu	37	6	137479531	137479531	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr6:137479531delC	ENST00000296980.2	-	3	450	c.150delG	c.(148-150)ggfs	p.G50fs	IL22RA2_ENST00000339602.3_Frame_Shift_Del_p.G50fs|IL22RA2_ENST00000349184.4_Frame_Shift_Del_p.G50fs	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	50	Fibronectin type-III 1.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TAAGTGCCCTCCCAGGCTGCC	0.433													31	54	---	---	---	---					
POTEA	340441	broad.mit.edu	37	8	43171081	43171081	+	RNA	DEL	G	G	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:43171081delG	ENST00000522175.2	+	0	816							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAGGCTTAAAGGAAGTGAAAA	0.303													9	25	---	---	---	---					
RP1	6101	broad.mit.edu	37	8	55542116	55542116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr8:55542116delC	ENST00000220676.1	+	4	5822	c.5674delC	c.(5674-5676)ctfs	p.P1892fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1892					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)			CCAACCATTGCCTGGCAGTAA	0.388													33	120	---	---	---	---					
CCNYL2	414194	broad.mit.edu	37	10	42949834	42949834	+	RNA	DEL	G	G	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:42949834delG	ENST00000483242.3	-	0	623					NR_103829.1				cyclin Y-like 2											breast(2)|endometrium(1)|lung(3)|ovary(1)	7						TGTTTCCCATGGGGTGCCTCT	0.582													3	4	---	---	---	---					
ERCC6	2074	broad.mit.edu	37	10	50732182	50732182	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr10:50732182delC	ENST00000355832.5	-	5	1372	c.1294delG	c.(1294-1296)aafs	p.E433fs	ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.E433fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.E433fs|PGBD3_ENST00000374127.3_5'UTR|PGBD3_ENST00000603152.1_Frame_Shift_Del_p.E433fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	433					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAGCTTCTTCCCCAGAACTT	0.498								Direct reversal of damage;Nucleotide excision repair (NER)					12	118	---	---	---	---					
OR4D9	390199	broad.mit.edu	37	11	59282430	59282430	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:59282430delG	ENST00000329328.3	+	1	45	c.45delG	c.(43-45)ctfs	p.L15fs		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TTACCTTCCTGGGAATTACTC	0.393													21	122	---	---	---	---					
OR8B12	219858	broad.mit.edu	37	11	124413499	124413499	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:124413499delG	ENST00000306842.2	-	1	76	c.52delC	c.(52-54)acfs	p.H18fs		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CCCGGCTGGTGGGTTAAGCCT	0.542													19	108	---	---	---	---					
ROBO4	54538	broad.mit.edu	37	11	124765693	124765693	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr11:124765693delC	ENST00000306534.3	-	5	1280	c.795delG	c.(793-795)tgfs	p.W265fs	ROBO4_ENST00000533054.1_Frame_Shift_Del_p.W120fs	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	265	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TCCAGCTGAGCCACACCGCCG	0.597													10	87	---	---	---	---					
ZNF705A	440077	broad.mit.edu	37	12	8327850	8327851	+	Frame_Shift_Ins	INS	-	-	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:8327850_8327851insT	ENST00000359286.4	+	3	255_256	c.166_167insT	c.(166-168)tttfs	p.F56fs		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		ATCCTATATAATTTTGCAGCTG	0.426													7	35	---	---	---	---					
NCKAP1L	3071	broad.mit.edu	37	12	54903456	54903457	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:54903456_54903457delCC	ENST00000293373.6	+	6	589_590	c.510_511delCC	c.(508-513)gaccfs	p.DP170fs	NCKAP1L_ENST00000545638.2_Frame_Shift_Del_p.DP120fs	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	170					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTTCTAGTGACCCCAGTTTTGC	0.495													20	110	---	---	---	---					
TDG	6996	broad.mit.edu	37	12	104373620	104373620	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr12:104373620delG	ENST00000392872.3	+	3	412	c.178delG	c.(178-180)gafs	p.G60fs	TDG_ENST00000266775.9_Frame_Shift_Del_p.G56fs|TDG_ENST00000544861.1_5'UTR	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	60					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GGCTCCAAAAGGAAGAAAAAG	0.363								Base excision repair (BER), DNA glycosylases					12	31	---	---	---	---					
TRIM9	114088	broad.mit.edu	37	14	51448586	51448587	+	Frame_Shift_Ins	INS	-	-	T	rs138465909	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:51448586_51448587insT	ENST00000298355.3	-	8	2959_2960	c.1838_1839insA	c.(1837-1839)gaafs	p.E613fs	TRIM9_ENST00000338969.5_Frame_Shift_Ins_p.E694fs	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	613	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CCCAAGCTTTGTCGTCTTTTCC	0.520													40	160	---	---	---	---					
PCNX	22990	broad.mit.edu	37	14	71445200	71445200	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr14:71445200delT	ENST00000304743.2	+	6	2592	c.2146delT	c.(2146-2148)tafs	p.L716fs	PCNX_ENST00000439984.3_Frame_Shift_Del_p.L716fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.L716fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	716						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TATAAAGCCCTTAACCACTTC	0.473													22	78	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:23312380delT	ENST00000560464.1	-	0	3118																											TGTTAttttcttttttttttt	0.398													3	5	---	---	---	---					
SPPL2A	84888	broad.mit.edu	37	15	51012161	51012162	+	Frame_Shift_Ins	INS	-	-	T			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:51012161_51012162insT	ENST00000261854.5	-	14	1737_1738	c.1463_1464insA	c.(1462-1464)attfs	p.I488fs		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	488						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CTTTCCAGAACTTTTTCATTTC	0.416													19	69	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077679	32077680	+	RNA	DEL	AC	AC	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr16:32077679_32077680delAC	ENST00000354689.6	+	0	294				RP11-1166P10.6_ENST00000566806.1_RNA																							ACTGTGTGAAACACAGAGTGAG	0.564													10	651	---	---	---	---					
ALOX12B	242	broad.mit.edu	37	17	7976222	7976222	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr17:7976222delG	ENST00000319144.4	-	15	2233	c.1973delC	c.(1972-1974)cgfs	p.P658fs		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	658	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCTCCTCCGCGGGGCCTCCTC	0.662										Multiple Myeloma(8;0.094)			8	35	---	---	---	---					
ENOSF1	55556	broad.mit.edu	37	18	706520	706520	+	Frame_Shift_Del	DEL	C	C	-	rs147206140		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:706520delC	ENST00000383578.3	-	2	217	c.13delG	c.(13-15)aafs	p.E5fs	ENOSF1_ENST00000580982.1_Frame_Shift_Del_p.G48fs|ENOSF1_ENST00000251101.7_Frame_Shift_Del_p.G48fs|ENOSF1_ENST00000539164.1_Frame_Shift_Del_p.G48fs|ENOSF1_ENST00000340116.7_Frame_Shift_Del_p.G69fs	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	0					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CCCCTTGATTCCATCTTCTGC	0.488													50	143	---	---	---	---					
ZNF521	25925	broad.mit.edu	37	18	22807042	22807054	+	Frame_Shift_Del	DEL	GGCCGCTCGGTCC	GGCCGCTCGGTCC	-	rs144835436	byFrequency	TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:22807042_22807054delGGCCGCTCGGTCC	ENST00000361524.3	-	4	976_988	c.828_840delGGACCGAGCGGCC	c.(826-840)gafs	p.EDRAA276fs	ZNF521_ENST00000538137.2_Frame_Shift_Del_p.EDRAA276fs|ZNF521_ENST00000584787.1_Frame_Shift_Del_p.EDRAA56fs	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	276					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACACTGGAGGGCCGCTCGGTCCTCATTTGGGG	0.554			T	PAX5	ALL								8	71	---	---	---	---					
ZNF521	25925	broad.mit.edu	37	18	22807585	22807585	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr18:22807585delA	ENST00000361524.3	-	4	445	c.297delT	c.(295-297)ccfs	p.P99fs	ZNF521_ENST00000538137.2_Frame_Shift_Del_p.P99fs|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	99					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTCCATGGCTAGGGGAAGTCT	0.507			T	PAX5	ALL								8	89	---	---	---	---					
ZNF45	7596	broad.mit.edu	37	19	44418951	44418952	+	Frame_Shift_Del	DEL	CT	CT	-	rs151245545		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:44418951_44418952delCT	ENST00000269973.5	-	10	1726_1727	c.636_637delAG	c.(634-639)agtcfs	p.RV212fs	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Frame_Shift_Del_p.RV212fs	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	212					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTACTGTGGACTCTCTGATGGG	0.431													11	272	---	---	---	---					
CEACAM19	56971	broad.mit.edu	37	19	45179541	45179542	+	Splice_Site	DEL	AG	AG	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:45179541_45179542delAG	ENST00000358777.4	+	3	904		c.e3-1		CEACAM19_ENST00000403660.3_Splice_Site|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_Splice_Site	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19							integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CTCACCCCTCAGAAAAGAATAA	0.574													16	100	---	---	---	---					
SIGLEC11	114132	broad.mit.edu	37	19	50463968	50463968	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:50463968delC	ENST00000447370.2	-	2	391	c.301delG	c.(301-303)acfs	p.D101fs	SIGLEC11_ENST00000426971.2_Frame_Shift_Del_p.D101fs	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	101	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TGGAATCGGTCCCGGGTGCTC	0.582													27	24	---	---	---	---					
LAIR1	3903	broad.mit.edu	37	19	54866935	54866935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:54866935delG	ENST00000391743.3	-	9	1032	c.752delC	c.(751-753)cafs	p.P251fs	LAIR1_ENST00000474878.1_Frame_Shift_Del_p.P251fs|LAIR1_ENST00000313038.6_Frame_Shift_Del_p.P262fs|LAIR1_ENST00000348231.4_Frame_Shift_Del_p.P252fs|LAIR1_ENST00000434277.2_Frame_Shift_Del_p.P268fs|LAIR1_ENST00000391742.2_Frame_Shift_Del_p.P269fs			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	269						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TGTGGACTGTGGGGACACAGC	0.617													12	133	---	---	---	---					
NLRP11	204801	broad.mit.edu	37	19	56297075	56297075	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr19:56297075delA	ENST00000443188.1	-	12	3728	c.3018delT	c.(3016-3018)tcfs	p.S1006fs	NLRP11_ENST00000589824.2_Frame_Shift_Del_p.S952fs|NLRP11_ENST00000589093.1_Frame_Shift_Del_p.S1006fs|NLRP11_ENST00000592953.1_Frame_Shift_Del_p.S907fs|NLRP11_ENST00000360133.3_Frame_Shift_Del_p.S952fs	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	1006							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATCCAAATTAGAATTAGGTA	0.393													15	96	---	---	---	---					
PIWIL3	440822	broad.mit.edu	37	22	25131729	25131729	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chr22:25131729delC	ENST00000332271.5	-	13	1996	c.1580delG	c.(1579-1581)gtfs	p.G527fs	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Frame_Shift_Del_p.G418fs|PIWIL3_ENST00000533313.1_Frame_Shift_Del_p.G418fs	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	527					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTGTAGATGACCCTTTAAGGA	0.413													19	177	---	---	---	---					
DGKK	139189	broad.mit.edu	37	X	50165596	50165597	+	RNA	DEL	AC	AC	-	rs72026364		TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:50165596_50165597delAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TAAAAGGTAAacacacacacac	0.411													6	12	---	---	---	---					
KLHL4	56062	broad.mit.edu	37	X	86890717	86890717	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrX:86890717delG	ENST00000373119.4	+	9	2012	c.1867delG	c.(1867-1869)ggfs	p.G624fs	KLHL4_ENST00000373114.4_Frame_Shift_Del_p.G624fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	624						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.H625fs*2(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATATGTTGTAGGGGGGCATGA	0.443													23	16	---	---	---	---					
PCDH11Y	83259	broad.mit.edu	37	Y	4968113	4968114	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-MN-A4N4-01A-12D-A24P-08	TCGA-MN-A4N4-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5395ae5d-e85e-4307-a848-1a34b409df82	2d5beab9-6d45-4d0e-b961-dcc8cb510d36	g.chrY:4968113_4968114delAT	ENST00000333703.4	+	5	2974_2975	c.2461_2462delAT	c.(2461-2463)afs	p.I821fs	PCDH11Y_ENST00000362095.5_Frame_Shift_Del_p.I832fs|PCDH11Y_ENST00000215473.6_Frame_Shift_Del_p.I832fs	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	832	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAATACTGAGATAGCTGATGTA	0.431													11	141	---	---	---	---					
