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
PENK	5179	broad.mit.edu	37	8	57358273	57358273	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:57358273G>A	ENST00000518770.1	-	3	393	c.240C>T	c.(238-240)ttC>ttT	p.F80F	PENK_ENST00000523051.1_Intron|PENK_ENST00000314922.3_Intron|PENK_ENST00000451791.2_Intron			P01210	PENK_HUMAN	proenkephalin	139					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GACCCGGTGCGAACCGCCATA	0.662000													4	27					0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21910398	21910398	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:21910398C>A	ENST00000358296.6	-	5	914	c.716G>T	c.(715-717)gGc>gTc	p.G239V	ZNF100_ENST00000305570.6_Missense_Mutation_p.G175V	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GAAGGCTTTGCCACAATCTTT	0.353000													20	56					1.15919e-05	1.29086e-05	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	10274061	10274061	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr16:10274061C>A	ENST00000396573.2	-	3	517	c.208G>T	c.(208-210)Gta>Tta	p.V70L	GRIN2A_ENST00000396575.2_Missense_Mutation_p.V70L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V70L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V70L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V70L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	70					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCAGAGCTACCACGTTCACG	0.657000													43	128					4.14194e-30	7.13798e-30	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059170	248059170	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:248059170C>A	ENST00000537741.1	+	3	539	c.282C>A	c.(280-282)taC>taA	p.Y94*	OR2W3_ENST00000360358.3_Nonsense_Mutation_p.Y94*			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	94					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)			CCATCAGCTACATGGGCTGTG	0.562000													88	121					3.71514e-35	6.6318e-35	1	1	0
MUC3A	4584	broad.mit.edu	37	7	100552055	100552055	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:100552055T>A	ENST00000319509.7	+	1	806	c.806T>A	c.(805-807)aTt>aAt	p.I269N						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCACCATACATTTTCAGTACA	0.463000													191	514					0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170695477	170695477	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:170695477C>A	ENST00000239461.6	+	3	847	c.534C>A	c.(532-534)ccC>ccA	p.P178P	PRRX1_ENST00000497230.2_Silent_p.P178P|PRRX1_ENST00000367760.3_Silent_p.P178P|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	178						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGAGCAGCCCATCGTACCTC	0.562000													50	105					6.03219e-31	1.05168e-30	1	1	0
CD300LD	100131439	broad.mit.edu	37	17	72584840	72584840	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:72584840G>A	ENST00000375352.1	-	2	269	c.189C>T	c.(187-189)atC>atT	p.I63I	C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	63	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						TTTTAACAAGGATGTTACAGT	0.478000													123	155					0	0	1	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212529978	212529978	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:212529978G>T	ENST00000261461.2	+	9	1512	c.938G>T	c.(937-939)gGa>gTa	p.G313V	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.G256V	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	313					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GTGATCAGAGGACTGCTGAAA	0.373000													6	71					0.00307968	0.00319731	1	1	0
SLC6A4	6532	broad.mit.edu	37	17	28539756	28539756	+	Splice_Site	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:28539756A>T	ENST00000401766.2	-	8	1717		c.e8+1		SLC6A4_ENST00000261707.3_Splice_Site			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4						response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCGAGGTCCTACCTGCGTCTT	0.448000													19	97					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9546387	9546387	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:9546387G>C	ENST00000352665.5	+	14	1804	c.1735G>C	c.(1735-1737)Gtg>Ctg	p.V579L	RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.V589L|WDR16_ENST00000396219.3_Missense_Mutation_p.V511L	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	579						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TGAGGGTGAAGTGACTCACGT	0.433000													28	20					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215953366	215953366	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:215953366G>T	ENST00000366943.2	-	55	11144	c.10758C>A	c.(10756-10758)acC>acA	p.T3586T	USH2A_ENST00000307340.3_Silent_p.T3586T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3586					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)		GAACTCCTTGGGTAGTAGCTG	0.463000										HNSCC(13;0.011)			13	94					4.3838e-07	5.06084e-07	1	1	0
BPTF	2186	broad.mit.edu	37	17	65936752	65936752	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:65936752A>G	ENST00000321892.4	+	21	6896	c.6835A>G	c.(6835-6837)Act>Gct	p.T2279A	BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000335221.5_Missense_Mutation_p.T2279A|BPTF_ENST00000424123.3_Missense_Mutation_p.T2140A|BPTF_ENST00000306378.6_Missense_Mutation_p.T2153A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2279					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)			GGCTCAACTTACTCAGTTAAC	0.398000													36	39					0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378610	142378610	+	RNA	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:142378610T>C	ENST00000390398.3	+	0	39																											AACTGTGCCATGACTATCAGG	0.478000													12	14					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11426679	11426679	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:11426679C>G	ENST00000315872.6	-	3	758	c.310G>C	c.(310-312)Ggt>Cgt	p.G104R	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	104	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGCACTTCACCAAAAGCACCT	0.343000													20	115					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89939508	89939508	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:89939508G>T	ENST00000389297.4	+	23	3033	c.2782G>T	c.(2782-2784)Gca>Tca	p.A928S	C7orf63_ENST00000497910.1_Missense_Mutation_p.A910S|C7orf63_ENST00000316089.8_Missense_Mutation_p.A882S	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	928							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GAGGGTGAAAGCAGTTAAAAT	0.388000													28	60					1.17739e-12	1.56463e-12	1	1	0
VN1R4	317703	broad.mit.edu	37	19	53770578	53770578	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:53770578G>T	ENST00000311170.4	-	1	394	c.341C>A	c.(340-342)tCc>tAc	p.S114Y		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	114					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGCCCACCTGGATTTCCTGGA	0.493000										HNSCC(26;0.072)			22	30					6.44725e-10	7.93304e-10	1	1	0
SHPRH	257218	broad.mit.edu	37	6	146264551	146264551	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:146264551C>G	ENST00000367503.3	-	9	2364	c.1966G>C	c.(1966-1968)Gat>Cat	p.D656H	SHPRH_ENST00000367505.2_Missense_Mutation_p.D656H|SHPRH_ENST00000275233.7_Missense_Mutation_p.D656H|SHPRH_ENST00000438092.2_Missense_Mutation_p.D656H	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	656					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AAGCGGTAATCAGAGGTGTTA	0.423000													38	83					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120744843	120744843	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:120744843C>A	ENST00000527524.2	+	10	1262	c.975C>A	c.(973-975)agC>agA	p.S325R	RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.S325R			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	325					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TGAACCGGAGCCAAGAGATCG	0.647000													11	37					9.05144e-12	1.17669e-11	1	1	0
MGAT3	4248	broad.mit.edu	37	22	39884102	39884102	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr22:39884102G>T	ENST00000341184.6	+	2	965	c.750G>T	c.(748-750)ccG>ccT	p.P250P		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	250					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)					AGCCGCGGCCGCTCAAGTTCC	0.637000													16	37					1.3612e-06	1.5564e-06	1	1	0
HMBS	3145	broad.mit.edu	37	11	118963717	118963717	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:118963717C>T	ENST00000537841.1	+	13	1138	c.847C>T	c.(847-849)Cat>Tat	p.H283Y	HMBS_ENST00000392841.1_Missense_Mutation_p.H283Y|HMBS_ENST00000278715.3_Missense_Mutation_p.H300Y|HMBS_ENST00000542729.1_Missense_Mutation_p.H243Y|HMBS_ENST00000442944.2_Missense_Mutation_p.H283Y|HMBS_ENST00000544387.1_Missense_Mutation_p.H260Y|HMBS_ENST00000543090.1_Missense_Mutation_p.H269Y			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	300					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGCTACCATCCATGTCCCTGC	0.517000													16	78					0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56060466	56060466	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:56060466T>G	ENST00000584396.1	-	2	383	c.295A>C	c.(295-297)Acc>Ccc	p.T99P	VEZF1_ENST00000581208.1_Missense_Mutation_p.T108P			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	108					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GTGGTGGGGGTTTTCTTTGGC	0.547000													18	87					0	0	1	0	0
BCL7A	605	broad.mit.edu	37	12	122473321	122473321	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:122473321A>G	ENST00000538010.1	+	3	2929	c.259A>G	c.(259-261)Atg>Gtg	p.M87V	BCL7A_ENST00000261822.4_Missense_Mutation_p.M87V	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	87					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CCCAGGGATGATGGACATGCA	0.547000			T	MYC	BNHL								21	45					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10250059	10250059	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:10250059G>T	ENST00000418404.3	-	12	1364	c.1201C>A	c.(1201-1203)Ctg>Atg	p.L401M	MYH13_ENST00000252172.4_Missense_Mutation_p.L401M|MYH13_ENST00000570743.1_Missense_Mutation_p.L401M			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	401	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						GGACAGCACAGGCCCTTCAGC	0.453000													20	24					1.36565e-18	2.0519e-18	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62050081	62050081	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:62050081G>C	ENST00000578147.1	-	1	197	c.121C>G	c.(121-123)Cgg>Ggg	p.R41G	SCN4A_ENST00000435607.1_Missense_Mutation_p.R41G			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	41					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGCTTATTCCGCTGCAGCCGG	0.642000													9	24					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302237	31302237	+	Silent	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:31302237T>C	ENST00000265071.2	+	6	1096	c.831T>C	c.(829-831)acT>acC	p.T277T	CDH6_ENST00000514738.1_Silent_p.T222T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	277	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						AGTTTAAAACTCCTGAATCTT	0.408000													8	35					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35176789	35176789	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:35176789T>A	ENST00000156471.5	-	26	3189	c.2964A>T	c.(2962-2964)gaA>gaT	p.E988D		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	988						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CCATGTCTTCTTCATAAGATC	0.383000													11	42					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113196658	113196658	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr9:113196658G>T	ENST00000401783.2	-	30	5353	c.5017C>A	c.(5017-5019)Ctg>Atg	p.L1673M	SVEP1_ENST00000374469.1_Missense_Mutation_p.L1650M	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1673	Sushi 5.				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						CCTTGATTCAGACAGTACTGC	0.443000													4	25					0.000602214	0.000639652	1	1	0
TNRC6B	23112	broad.mit.edu	37	22	40662101	40662101	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr22:40662101T>G	ENST00000454349.2	+	5	2078	c.1867T>G	c.(1867-1869)Tgg>Ggg	p.W623G	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.W623G	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	623					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						AAACACTGGCTGGGGCCAAAC	0.552000													14	32					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216595395	216595395	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:216595395G>T	ENST00000366943.2	-	2	670	c.284C>A	c.(283-285)cCt>cAt	p.P95H	USH2A_ENST00000307340.3_Missense_Mutation_p.P95H|USH2A_ENST00000366942.3_Missense_Mutation_p.P95H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	95					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)		AGTGTAGGTAGGGTGTGAAGA	0.468000										HNSCC(13;0.011)			76	67					8.07507e-42	1.50433e-41	1	1	0
IGKV2-30	28919	broad.mit.edu	37	2	89544427	89544427	+	RNA	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:89544427C>A	ENST00000468494.1	-	0	226																											TGGAGATTGGCCTGGCCTCTG	0.522000													60	124					2.81305e-35	5.03654e-35	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			18	8					2.94398e-08	3.51398e-08	1	1	0
SORBS3	10174	broad.mit.edu	37	8	22423981	22423981	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:22423981C>T	ENST00000240123.7	+	13	1457	c.1074C>T	c.(1072-1074)taC>taT	p.Y358Y	SORBS3_ENST00000428103.1_Silent_p.Y16Y|SORBS3_ENST00000523740.1_3'UTR|RP11-582J16.3_ENST00000517384.1_RNA	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	358					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)		ACTTTGTCTACCCTTCCTCAA	0.612000													34	46					0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48953774	48953774	+	Missense_Mutation	SNP	C	C	T	rs147465341	byFrequency	TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:48953774C>T	ENST00000253237.5	+	4	906	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	225						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CTGGTCCCCCCGGGTGACCGG	0.667000													21	50					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210542	37210542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:37210542G>T	ENST00000585696.1	+	3	2053	c.823G>T	c.(823-825)Gag>Tag	p.E275*	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Nonsense_Mutation_p.E275*|ZNF567_ENST00000536254.2_Nonsense_Mutation_p.E306*|ZNF567_ENST00000360729.4_Nonsense_Mutation_p.E275*|ZNF567_ENST00000392163.2_Nonsense_Mutation_p.E275*			Q8N184	ZN567_HUMAN	zinc finger protein 567	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACACAGGAGAGAAACCCTT	0.418000													13	51					2.27111e-07	2.64226e-07	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55591283	55591283	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:55591283C>A	ENST00000373965.2	-	31	4409	c.4015G>T	c.(4015-4017)Ggc>Tgc	p.G1339C	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1295C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1332C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1337C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1332C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1339C|PCDH15_ENST00000409834.1_Missense_Mutation_p.G943C|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1261C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1332C|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1310C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1332C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1332					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)				AGTAGTTTGCCATCCAAAAAT	0.333000										HNSCC(58;0.16)			19	19					5.03518e-11	6.42013e-11	1	1	0
CYP4F24P	388514	broad.mit.edu	37	19	15880899	15880899	+	RNA	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:15880899C>T	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							AACTCAAACCCACTCTGAATG	0.507000													4	3					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134071984	134071984	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:134071984G>C	ENST00000264360.4	+	1	1515	c.689G>C	c.(688-690)cGc>cCc	p.R230P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	230	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAGCAGCAGCGCACCGGCACG	0.657000													17	63					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740220	176740220	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:176740220A>T	ENST00000367662.3	+	17	5783	c.4619A>T	c.(4618-4620)cAc>cTc	p.H1540L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1540	Sushi 3.				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						CTCCTGCCTCACTGCCTCCAG	0.493000													32	124					0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17718180	17718180	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:17718180G>A	ENST00000355815.4	-	15	2830	c.2661C>T	c.(2659-2661)ttC>ttT	p.F887F	SREBF1_ENST00000261646.5_Silent_p.F857F|SREBF1_ENST00000395757.1_Silent_p.F603F|SREBF1_ENST00000338854.5_Silent_p.F857F	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	857					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AACTGATGGAGAAGCTGTAGG	0.637000													3	5					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7613241	7613241	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:7613241G>C	ENST00000340080.4	+	4	1556	c.1135G>C	c.(1135-1137)Gaa>Caa	p.E379Q	MIOS_ENST00000405785.1_Missense_Mutation_p.E379Q	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	379										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAATGTACGGAAGAAGAAAA	0.388000													51	70					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395186	115395186	+	Silent	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:115395186C>G	ENST00000393780.3	+	3	933	c.465C>G	c.(463-465)gcC>gcG	p.A155A	GAP43_ENST00000305124.6_Silent_p.A119A	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	119					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GTGATGCTGCCACAGAGCAGG	0.607000													19	38					0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69631163	69631163	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:69631163C>A	ENST00000334134.2	-	2	339	c.249G>T	c.(247-249)gtG>gtT	p.V83V		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	83					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CCACAATGCCCACCTCCACTG	0.627000													37	70					1.66425e-11	2.14487e-11	1	1	0
PLCD4	84812	broad.mit.edu	37	2	219483388	219483388	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:219483388G>T	ENST00000450993.2	+	4	607	c.268G>T	c.(268-270)Ggc>Tgc	p.G90C	PLCD4_ENST00000432688.1_Missense_Mutation_p.G90C|PLCD4_ENST00000417849.1_Missense_Mutation_p.G90C	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	90	PH.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTGGAGCAGGGCTTCACCAT	0.567000													11	30					0.000978159	0.00102801	1	1	0
DRD1	1812	broad.mit.edu	37	5	174869390	174869390	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:174869390G>T	ENST00000393752.2	-	2	1705	c.713C>A	c.(712-714)gCc>gAc	p.A238D		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	238					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)	GCAATTCTTGGCGTGGACTGC	0.483000													43	99					3.54909e-21	5.5559e-21	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152651554	152651554	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:152651554C>A	ENST00000367255.5	-	78	14867	c.14266G>T	c.(14266-14268)Gtc>Ttc	p.V4756F	SYNE1_ENST00000341594.5_Missense_Mutation_p.V4503F|SYNE1_ENST00000265368.4_Missense_Mutation_p.V4756F|SYNE1_ENST00000423061.1_Missense_Mutation_p.V4685F|SYNE1_ENST00000448038.1_Missense_Mutation_p.V4685F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4756					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATAAGGTGACAAGGTGCAGC	0.512000										HNSCC(10;0.0054)			25	28					3.73808e-20	5.74646e-20	1	1	0
ARMCX2	9823	broad.mit.edu	37	X	100912119	100912119	+	Silent	SNP	T	T	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chrX:100912119T>G	ENST00000328766.5	-	5	909	c.456A>C	c.(454-456)gcA>gcC	p.A152A	ARMCX2_ENST00000330154.2_Silent_p.A152A|ARMCX2_ENST00000356824.4_Silent_p.A152A	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	152	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CAGGGGCTTCTGCAGCCCCAA	0.637000													26	30					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74148302	74148302	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:74148302C>T	ENST00000324896.4	+	16	1731	c.1342C>T	c.(1342-1344)Ctt>Ttt	p.L448F	GTF2I_ENST00000416070.1_Missense_Mutation_p.L407F|GTF2I_ENST00000353920.4_Missense_Mutation_p.L428F|GTF2I_ENST00000346152.4_Missense_Mutation_p.L427F	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	448					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGATTTACAGCTTGATAAGCC	0.353000													29	123					0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133921683	133921683	+	Missense_Mutation	SNP	G	G	A	rs55740278		TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:133921683G>A	ENST00000427044.2	-	7	713	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	RYK_ENST00000296084.4_Missense_Mutation_p.R225C			P34925	RYK_HUMAN	receptor-like tyrosine kinase	224				PALRAAAAPALLLARCAVAAAAGLRAAAR -> RGLRAPPP PPLLLLLALLPLLPAPGAAAAPA (in Ref. 2).	corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TAAAACACACGCGTAGAAGTG	0.343000													7	47					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7773092	7773092	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:7773092C>A	ENST00000338316.4	+	18	2351	c.2262C>A	c.(2260-2262)ttC>ttA	p.F754L	ADCY2_ENST00000537121.1_Missense_Mutation_p.F574L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	754					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTTCCGTGTTCCTGCGGGTAA	0.502000													66	125					2.05175e-36	3.69563e-36	1	1	0
STX2	2054	broad.mit.edu	37	12	131286002	131286002	+	Silent	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:131286002T>C	ENST00000261653.6	-	7	661	c.495A>G	c.(493-495)gaA>gaG	p.E165E	STX2_ENST00000392373.2_Silent_p.E165E	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	165					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CCAGCATCTCTTCTAGCTCGT	0.527000													18	73					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477116	63477116	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:63477116C>A	ENST00000536984.2	+	3	1081	c.387C>A	c.(385-387)acC>acA	p.T129T	CDH7_ENST00000323011.3_Silent_p.T129T|CDH7_ENST00000397968.2_Silent_p.T129T			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	129	Cadherin 1.				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)				ATAGGCTCACCAACAAACCCG	0.502000													38	95					1.69901e-12	2.25279e-12	1	1	0
ABR	29	broad.mit.edu	37	17	960238	960238	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:960238C>A	ENST00000544583.2	-	13	1947	c.1348_splice	c.e13+1	p.D450_splice	ABR_ENST00000536794.2_Splice_Site_p.D278_splice|ABR_ENST00000302538.5_Splice_Site_p.D496_splice|ABR_ENST00000291107.2_Splice_Site_p.D459_splice|ABR_ENST00000573895.1_5'UTR|ABR_ENST00000574437.1_Splice_Site_p.D450_splice	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	496	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCGAGCTTACCGTCTTTATTG	0.567000													21	106					1.50039e-11	1.93787e-11	1	1	0
ACBD5	91452	broad.mit.edu	37	10	27497247	27497247	+	Silent	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:27497247C>G	ENST00000396271.3	-	10	1458	c.1332G>C	c.(1330-1332)ctG>ctC	p.L444L	ACBD5_ENST00000375901.1_Silent_p.L335L|ACBD5_ENST00000375905.4_Silent_p.L409L|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Silent_p.L267L|ACBD5_ENST00000375888.1_Silent_p.L453L	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	453					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GCAGTCTCATCAGCACGAGGG	0.562000													45	114					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13192576	13192576	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:13192576G>T	ENST00000358552.3	+	6	1035	c.1035G>T	c.(1033-1035)ccG>ccT	p.P345P	NFIX_ENST00000592199.1_Silent_p.P387P|NFIX_ENST00000587760.1_Silent_p.P379P|NFIX_ENST00000360105.4_Silent_p.P349P|NFIX_ENST00000397661.2_Silent_p.P387P|NFIX_ENST00000585575.1_Silent_p.P379P|NFIX_ENST00000587260.1_Silent_p.P386P|NFIX_ENST00000588228.1_Silent_p.P340P			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	387					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)			TCACGCACCCGACCATCCGCT	0.642000													27	40					3.65163e-15	5.21163e-15	1	1	0
ZEB1	6935	broad.mit.edu	37	10	31608200	31608200	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:31608200G>T	ENST00000361642.5	+	1	100	c.37G>T	c.(37-39)Gcg>Tcg	p.A13S	ZEB1_ENST00000320985.10_Missense_Mutation_p.A13S|ZEB1-AS1_ENST00000423714.1_RNA|ZEB1-AS1_ENST00000606286.1_RNA|ZEB1-AS1_ENST00000605946.1_RNA|ZEB1_ENST00000542815.3_Missense_Mutation_p.A13S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.A13S	NM_001174093.1|NM_001174095.1|NM_001174096.1|NM_030751.5	NP_001167564.1|NP_001167566.1|NP_001167567.1|NP_110378.3	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	13					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)				CAGAAAGCAGGCGAACCCGCG	0.706000													7	2					0.00448238	0.00463748	1	1	0
SETD4	54093	broad.mit.edu	37	21	37418170	37418170	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr21:37418170C>T	ENST00000399215.1	-	5	1808	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Missense_Mutation_p.E122K|SETD4_ENST00000332131.4_Missense_Mutation_p.E146K|SETD4_ENST00000399207.1_Missense_Mutation_p.E146K|SETD4_ENST00000399205.1_Missense_Mutation_p.E122K|SETD4_ENST00000399208.2_Missense_Mutation_p.E146K|SETD4_ENST00000399201.1_Missense_Mutation_p.E122K			Q9NVD3	SETD4_HUMAN	SET domain containing 4	146	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TTCACCACTTCCGGCTCCAAA	0.473000													51	125					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132195840	132195840	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:132195840G>T	ENST00000261674.4	+	1	207	c.66G>T	c.(64-66)ggG>ggT	p.G22G	SFSWAP_ENST00000541286.1_Silent_p.G22G	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	22					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGGAGGCCGGGCCAGGCGGTG	0.701000													23	26					1.66031e-10	2.08585e-10	1	1	0
RAB30	27314	broad.mit.edu	37	11	82693450	82693450	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:82693450C>A	ENST00000533486.1	-	6	653	c.369G>T	c.(367-369)aaG>aaT	p.K123N	RAB30_ENST00000527633.1_Missense_Mutation_p.K123N|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000534141.1_Missense_Mutation_p.R122I|RAB30_ENST00000260056.2_Missense_Mutation_p.K123N	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	123					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CCAGGTCAATCTTGTTGCCTA	0.423000													30	69					4.66903e-05	5.14195e-05	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12294346	12294346	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:12294346G>T	ENST00000358136.3	+	2	153	c.23G>T	c.(22-24)tGg>tTg	p.W8L	VPS13D_ENST00000356315.4_Missense_Mutation_p.W8L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	8					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)		CTTGTAGCCTGGGTTCTCAAT	0.393000													22	50					1.64293e-13	2.2329e-13	1	1	0
ADHFE1	137872	broad.mit.edu	37	8	67357514	67357514	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:67357514G>T	ENST00000396623.3	+	6	446	c.415G>T	c.(415-417)Ggt>Tgt	p.G139C	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.G91C|ADHFE1_ENST00000379385.4_Missense_Mutation_p.G139C	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	139					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGCTGTCGGTGGTGGCTCTAC	0.438000													30	96					7.26314e-15	1.0268e-14	1	1	0
PDIA4	9601	broad.mit.edu	37	7	148702998	148702998	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:148702998A>T	ENST00000286091.4	-	8	1511	c.1279T>A	c.(1279-1281)Tac>Aac	p.Y427N		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	427					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	p.Y427H(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCAGCTCTGTAATCAAAGCTG	0.617000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	33					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47278284	47278284	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:47278284C>A	ENST00000271153.4	+	4	520	c.484C>A	c.(484-486)Cgt>Agt	p.R162S	CYP4B1_ENST00000371919.4_Missense_Mutation_p.R147S|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R162S|CYP4B1_ENST00000452782.2_5'UTR			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	162					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGAGTCTACACGTATCATGCT	0.567000													34	63					9.80977e-26	1.62951e-25	1	1	0
CUX2	23316	broad.mit.edu	37	12	111701589	111701589	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:111701589C>A	ENST00000261726.6	+	4	401	c.247C>A	c.(247-249)Cag>Aag	p.Q83K	CUX2_ENST00000551604.2_3'UTR	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	83						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TAAGAGAAGTCAGGAGGCGGA	0.413000													69	196					1.15074e-40	2.1239e-40	1	1	0
NAP1L5	266812	broad.mit.edu	37	4	89618482	89618482	+	Missense_Mutation	SNP	C	C	T	rs147461195	by1000genomes	TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:89618482C>T	ENST00000323061.5	-	1	904	c.424G>A	c.(424-426)Gag>Aag	p.E142K	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	142	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		tcgtactcctcttcctcctcc	0.617000													12	57					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088063	92088063	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:92088063G>A	ENST00000298047.6	+	1	2802	c.2785G>A	c.(2785-2787)Gtc>Atc	p.V929I	FAT3_ENST00000541502.1_Missense_Mutation_p.V929I|FAT3_ENST00000409404.2_Missense_Mutation_p.V929I|FAT3_ENST00000525166.1_Missense_Mutation_p.V779I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	929	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTAGATGATGTCAATGACTG	0.433000										TCGA Ovarian(4;0.039)			59	118					0	0	1	0	0
MS4A8	83661	broad.mit.edu	37	11	60482864	60482864	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:60482864A>C	ENST00000300226.2	+	7	933	c.730A>C	c.(730-732)Agt>Cgt	p.S244R		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		AAGTTATTCCAGTGAGATCCA	0.483000													21	21					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431668	56431668	+	Nonsense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:56431668T>A	ENST00000302969.2	+	1	531	c.507T>A	c.(505-507)tgT>tgA	p.C169*		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TGAGTTACTGTGGTTCCAATA	0.498000													68	138					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954616	70954616	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:70954616C>A	ENST00000334414.6	-	17	4311	c.4267G>T	c.(4267-4269)Gag>Tag	p.E1423*	PTPRB_ENST00000550857.1_Nonsense_Mutation_p.E1115*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.E1335*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.E1115*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.E1205*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.E1422*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.E1115*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1205	Fibronectin type-III 16.				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)			AGAATCAGCTCATAAAAGTCA	0.502000													32	57					9.65021e-13	1.29101e-12	1	1	0
RXFP3	51289	broad.mit.edu	37	5	33936956	33936956	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:33936956G>A	ENST00000330120.3	+	1	466	c.111G>A	c.(109-111)acG>acA	p.T37T		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	37						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						CGGCCAACACGAGTGGTAACG	0.667000													31	102					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611794	84611794	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:84611794C>A	ENST00000286744.5	+	19	2674	c.2450C>A	c.(2449-2451)aCa>aAa	p.T817K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T817K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	817	TSP type-1 6.					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)			TGTGCCAGGACAGACTGTCCT	0.517000													10	32					2.27111e-07	2.64226e-07	1	1	0
DRD5	1816	broad.mit.edu	37	4	9784336	9784336	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:9784336C>A	ENST00000304374.2	+	1	1079	c.683C>A	c.(682-684)tCt>tAt	p.S228Y		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	228					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TACGCCATCTCTTCCTCGCTC	0.572000													23	74					9.57634e-11	1.21071e-10	1	1	0
COL6A2	1292	broad.mit.edu	37	21	47545217	47545217	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr21:47545217G>T	ENST00000300527.4	+	24	1912	c.1808G>T	c.(1807-1809)gGg>gTg	p.G603V	COL6A2_ENST00000310645.5_Missense_Mutation_p.G603V|COL6A2_ENST00000409416.1_Missense_Mutation_p.G603V|COL6A2_ENST00000397763.1_Missense_Mutation_p.G603V|COL6A2_ENST00000357838.4_Missense_Mutation_p.G603V	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	603	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGACCTGCGGGTGCTGCGGT	0.677000													51	88					3.68337e-26	6.18724e-26	1	1	0
NETO1	81832	broad.mit.edu	37	18	70532043	70532043	+	Splice_Site	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:70532043C>T	ENST00000327305.6	-	3	877	c.220_splice	c.e3+1	p.A74_splice	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Splice_Site_p.A73_splice|NETO1_ENST00000299430.2_Splice_Site_p.A73_splice|NETO1_ENST00000583169.1_Splice_Site_p.A74_splice	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	74	CUB 1.				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)		CTCCCCTTACCTTCTATGATG	0.453000													15	59					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55523570	55523570	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr16:55523570C>T	ENST00000219070.4	+	7	1523	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	MMP2_ENST00000437642.2_Silent_p.S288S|MMP2_ENST00000570308.1_Silent_p.S262S|MMP2_ENST00000543485.1_Silent_p.S262S	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	338	Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CAGCCATGTCCACTGTTGGTG	0.562000													67	80					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739417	38739417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:38739417G>T	ENST00000449082.2	-	27	5293	c.5294C>A	c.(5293-5295)tCg>tAg	p.S1765*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1765					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGCAAAGTCCGAGAGAGCAGA	0.493000													18	100					1.45105e-14	2.04653e-14	1	1	0
MUC16	94025	broad.mit.edu	37	19	9009642	9009642	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:9009642C>A	ENST00000397910.4	-	39	39287	c.39084G>T	c.(39082-39084)atG>atT	p.M13028I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13030	SEA 7.				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						CAGGGTGACGCATGTCCTCCC	0.552000													50	129					6.31075e-24	1.02272e-23	1	1	0
GABRB3	2562	broad.mit.edu	37	15	27017828	27017828	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:27017828C>A	ENST00000541819.2	-	3	442	c.340_splice	c.e3+1	p.G114_splice	GABRB3_ENST00000299267.4_Splice_Site_p.G58_splice|GABRB3_ENST00000311550.5_Splice_Site_p.G58_splice|GABRB3_ENST00000557641.1_5'UTR			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	58					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)	GCCCACTTACCCCCGAAGTCG	0.687000													3	8					0.004672	0.00481699	1	1	0
MIB2	142678	broad.mit.edu	37	1	1562683	1562683	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:1562683C>T	ENST00000357210.4	+	12	1772	c.1556C>T	c.(1555-1557)aCc>aTc	p.T519I	MIB2_ENST00000378708.1_Missense_Mutation_p.T425I|MIB2_ENST00000505820.2_Missense_Mutation_p.T576I|MIB2_ENST00000504599.1_Missense_Mutation_p.T475I|MIB2_ENST00000520777.1_Missense_Mutation_p.T572I|MIB2_ENST00000518681.1_Missense_Mutation_p.T511I|MIB2_ENST00000378712.1_Missense_Mutation_p.T396I|MIB2_ENST00000360522.4_Missense_Mutation_p.T484I|MIB2_ENST00000355826.5_Missense_Mutation_p.T562I|MIB2_ENST00000378710.3_Missense_Mutation_p.T483I	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	519					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGGTGGACACCAAGAACCAA	0.647000													14	35					0	0	1	0	0
PRRC1	133619	broad.mit.edu	37	5	126860299	126860299	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:126860299G>C	ENST00000442138.2	+	3	326	c.180G>C	c.(178-180)caG>caC	p.Q60H	PRRC1_ENST00000296666.8_Missense_Mutation_p.Q60H|PRRC1_ENST00000512635.2_Missense_Mutation_p.Q60H			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	60	Pro-rich.					Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		CTACTCCTCAGCCGCCCCTTC	0.507000													101	190					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42296978	42296978	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:42296978C>A	ENST00000342228.3	-	7	1293	c.924G>T	c.(922-924)cgG>cgT	p.R308R	SLC20A2_ENST00000520262.1_Silent_p.R308R|SLC20A2_ENST00000520179.1_Silent_p.R308R	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	308					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGTATGCAGCCCGAGGGTGGC	0.627000													25	54					0.000586117	0.000628133	1	1	0
OR52K1	390036	broad.mit.edu	37	11	4510466	4510466	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:4510466G>T	ENST00000307632.3	+	1	358	c.336G>T	c.(334-336)atG>atT	p.M112I		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCTCCATCATGGAGTCAGCAG	0.532000													27	43					6.32553e-13	8.50038e-13	1	1	0
OR7D4	125958	broad.mit.edu	37	19	9325407	9325407	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:9325407A>G	ENST00000308682.2	-	1	135	c.107T>C	c.(106-108)cTg>cCg	p.L36P		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CACCGTGACCAGGTACATGGA	0.522000													52	78					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47389304	47389304	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:47389304G>A	ENST00000426342.1	-	10	2001	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	MDGA2_ENST00000439988.2_Missense_Mutation_p.H648Y|MDGA2_ENST00000357362.3_Missense_Mutation_p.H419Y|MDGA2_ENST00000399232.2_Missense_Mutation_p.H717Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	648	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TAAACACGGTGTCTGTTCTGC	0.418000													34	69					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813812	248813812	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:248813812G>A	ENST00000344889.3	-	1	373	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTTGCAGATGGCTACGTAGCG	0.532000													15	198					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79181278	79181278	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:79181278C>T	ENST00000554719.1	+	5	1212	c.721C>T	c.(721-723)Cta>Tta	p.L241L	NRXN3_ENST00000335750.5_Silent_p.L241L	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)		CATCCGCGACCTATTCATTGA	0.582000													25	37					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54542613	54542613	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:54542613A>T	ENST00000545554.1	+	7	3419	c.3419A>T	c.(3418-3420)cAg>cTg	p.Q1140L	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1138L|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q1140L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1140					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAAAGTGTCAGGACCTGCTA	0.488000													9	35					0	0	1	0	0
NAGK	55577	broad.mit.edu	37	2	71303805	71303805	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:71303805G>A	ENST00000418807.3	+	7	750	c.586G>A	c.(586-588)Gta>Ata	p.V196I	NAGK_ENST00000455662.2_Missense_Mutation_p.V293I|NAGK_ENST00000244204.5_Missense_Mutation_p.V247I			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	247					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CAGACACATCGTAGCAGTGTT	0.587000													3	25					0	0	1	0	0
SPRED3	399473	broad.mit.edu	37	19	38886192	38886192	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:38886192G>T	ENST00000587013.1	+	5	850	c.772G>T	c.(772-774)Ggg>Tgg	p.G258W	SPRED3_ENST00000586301.1_Missense_Mutation_p.G214W|SPRED3_ENST00000338502.4_Missense_Mutation_p.G214W			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	214	Pro-rich.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGGGGCCTGGGGTGGGGCGG	0.701000													5	9					1.23904e-05	1.37467e-05	1	1	0
MBD5	55777	broad.mit.edu	37	2	149227562	149227562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:149227562G>T	ENST00000407073.1	+	9	3047	c.2050G>T	c.(2050-2052)Gga>Tga	p.G684*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.G684*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	684						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)		TCCTAAACCTGGACCTGACTT	0.443000													43	63					1.59932e-28	2.72477e-28	1	1	0
MSH3	4437	broad.mit.edu	37	5	79950566	79950566	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:79950566C>A	ENST00000265081.6	+	1	100	c.20C>A	c.(19-21)gCg>gAg	p.A7E	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	7					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CGGAAGCCTGCGTCGGGCGGC	0.701000								Mismatch excision repair (MMR)					15	17					3.45872e-05	3.81608e-05	1	1	0
HRH2	3274	broad.mit.edu	37	5	175110441	175110441	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:175110441C>A	ENST00000231683.2	+	1	1978	c.205C>A	c.(205-207)Ctc>Atc	p.L69I	HRH2_ENST00000377291.2_Missense_Mutation_p.L69I	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	69					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)	GCTCCTCGGCCTCCTGGTGCT	0.567000													46	75					2.24722e-20	3.4635e-20	1	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686544	125686544	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chrX:125686544G>T	ENST00000371126.1	-	1	290	c.48C>A	c.(46-48)gtC>gtA	p.V16V		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	16										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGTCCGCCTCGACCGCGGGCG	0.726000													20	30					7.41877e-09	8.9633e-09	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165956856	165956856	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:165956856C>A	ENST00000360093.3	-	22	4413	c.3922G>T	c.(3922-3924)Gct>Tct	p.A1308S	SCN3A_ENST00000409101.3_Missense_Mutation_p.A1259S|SCN3A_ENST00000283254.7_Missense_Mutation_p.A1308S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1308						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A1259T(1)|p.A1308T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GGTCTTAAAGCTCTTAATGTC	0.378000													14	60					1.15088e-07	1.35477e-07	1	1	0
PXK	54899	broad.mit.edu	37	3	58385031	58385031	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:58385031G>T	ENST00000463280.1	+	10	1100	c.1009G>T	c.(1009-1011)Gtg>Ttg	p.V337L	PXK_ENST00000383715.4_Missense_Mutation_p.V353L|PXK_ENST00000484288.1_Missense_Mutation_p.V370L|PXK_ENST00000302779.5_Missense_Mutation_p.V353L|PXK_ENST00000356151.2_Missense_Mutation_p.V370L|PXK_ENST00000479241.1_Missense_Mutation_p.V353L|PXK_ENST00000536660.1_Missense_Mutation_p.V233L|PXK_ENST00000383716.3_Missense_Mutation_p.V337L			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	370	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TCAAGTGGCCGTGTTGGAGTC	0.438000													12	27					4.3838e-07	5.06084e-07	1	1	0
ANKS3	124401	broad.mit.edu	37	16	4776715	4776715	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr16:4776715C>A	ENST00000304283.4	-	5	730	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000446014.2_Missense_Mutation_p.G17W|ANKS3_ENST00000585773.1_Missense_Mutation_p.G73W|ANKS3_ENST00000592711.1_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	146										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TGCTGGTGCCCGGCGCTGGTA	0.557000													39	66					8.69298e-16	1.25565e-15	1	1	0
RPS5	6193	broad.mit.edu	37	19	58904406	58904406	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:58904406G>A	ENST00000596046.1	+	2	1021	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	RPS5_ENST00000598495.1_Missense_Mutation_p.A79T|RPS5_ENST00000601521.1_Missense_Mutation_p.A58T|RPS5_ENST00000196551.3_Missense_Mutation_p.A58T|RPS5_ENST00000598098.1_Intron			P46782	RS5_HUMAN	ribosomal protein S5	58					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GCGGTATGCCGCCAAACGCTT	0.552000													19	19					0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94935532	94935532	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:94935532G>T	ENST00000396200.3	+	3	1596	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F	PDP1_ENST00000520728.1_Missense_Mutation_p.L415F|PDP1_ENST00000517764.1_Missense_Mutation_p.L415F|PDP1_ENST00000297598.4_Missense_Mutation_p.L415F	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	415					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTCTGGTGTTGGCTACTGATG	0.473000													65	78					3.8128e-34	6.76574e-34	1	1	0
PCTP	58488	broad.mit.edu	37	17	53852152	53852152	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:53852152G>T	ENST00000576183.1	+	5	554		c.e5-1		PCTP_ENST00000325214.6_Splice_Site|PCTP_ENST00000573500.1_Splice_Site|PCTP_ENST00000268896.5_Splice_Site|PCTP_ENST00000576221.1_Splice_Site			Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein							cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TCCCTCTCTAGTTTTCATGTA	0.448000													25	54					7.41945e-09	8.9633e-09	1	1	0
LAMC2	3918	broad.mit.edu	37	1	183195900	183195900	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:183195900G>T	ENST00000264144.4	+	9	1199	c.1134G>T	c.(1132-1134)tgG>tgT	p.W378C	LAMC2_ENST00000493293.1_Missense_Mutation_p.W378C	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	378	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CAGCACCCTGGGTTGAACAGT	0.522000													134	256					4.18689e-49	7.8983e-49	1	1	0
CYP2D7	1564	broad.mit.edu	37	22	42537649	42537649	+	RNA	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr22:42537649T>A	ENST00000435101.1	-	0	93				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						ATGCGCAGGTTCTCATCATTG	0.587000													5	16					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88729810	88729810	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:88729810C>A	ENST00000340700.5	-	2	574	c.123G>T	c.(121-123)ccG>ccT	p.P41P	KCNK10_ENST00000312350.5_Silent_p.P46P|KCNK10_ENST00000319231.5_Silent_p.P46P	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	41					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TGGACAGGCGCGGAGTTGGAG	0.652000													49	75					2.55665e-31	4.47039e-31	1	1	0
DMGDH	29958	broad.mit.edu	37	5	78351669	78351669	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:78351669G>A	ENST00000255189.3	-	3	367	c.339C>T	c.(337-339)atC>atT	p.I113I	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	113					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CATAAAGTTTGATGCTATCAT	0.333000													9	31					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101648225	101648225	+	Silent	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:101648225A>G	ENST00000311812.2	-	3	306	c.156T>C	c.(154-156)ttT>ttC	p.F52F		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	52	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GGCAATTTCCAAAGACCCGCC	0.483000													18	24					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382687	22382687	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:22382687C>G	ENST00000328795.4	+	1	306	c.215C>G	c.(214-216)tCc>tGc	p.S72C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGGATGCATCCTACTCCTTC	0.483000													31	270					0	0	1	0	0
PRSS21	10942	broad.mit.edu	37	16	2870974	2870974	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr16:2870974C>A	ENST00000455114.1	+	5	669	c.563C>A	c.(562-564)aCc>aAc	p.T188N	PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000450020.3_Missense_Mutation_p.T190N|PRSS21_ENST00000005995.3_Missense_Mutation_p.T190N	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	190	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						TCTCCCCACACCCTCCAGGAA	0.552000													63	393					1.3268e-25	2.18575e-25	1	1	0
OR5L2	26338	broad.mit.edu	37	11	55594991	55594991	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:55594991G>A	ENST00000378397.1	+	1	297	c.297G>A	c.(295-297)gtG>gtA	p.V99V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	99					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)				GGTGCATGGTGCAATTCTACT	0.468000										HNSCC(27;0.073)			39	125					0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54394247	54394247	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:54394247A>T	ENST00000303450.4	+	1	345	c.275A>T	c.(274-276)tAc>tTc	p.Y92F	HOXC9_ENST00000508190.1_Missense_Mutation_p.Y92F|HOXC9_ENST00000504557.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	92					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GACACGCGCTACATGCGGACT	0.721000													15	31					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132437876	132437876	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:132437876C>A	ENST00000326682.8	-	3	708	c.632G>T	c.(631-633)gGg>gTg	p.G211V	NPHP3_ENST00000337331.5_Missense_Mutation_p.G211V|NPHP3_ENST00000343113.4_Missense_Mutation_p.G211V			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	211					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						ATCAGACTCCCCAGGATCAAA	0.423000													40	75					8.16277e-20	1.24842e-19	1	1	0
CCKAR	886	broad.mit.edu	37	4	26487330	26487330	+	Silent	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:26487330A>G	ENST00000295589.3	-	3	749	c.555T>C	c.(553-555)ttT>ttC	p.F185F		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	185					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TATTTTTGGTAAAAGGCACCA	0.423000													27	32					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50280515	50280515	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:50280515G>T	ENST00000404971.1	-	22	5481	c.4142C>A	c.(4141-4143)aCt>aAt	p.T1381N	NRXN1_ENST00000402717.3_Missense_Mutation_p.T1333N|NRXN1_ENST00000401710.1_Missense_Mutation_p.T329N|NRXN1_ENST00000406316.2_Missense_Mutation_p.T1311N|NRXN1_ENST00000401669.2_Missense_Mutation_p.T1341N|NRXN1_ENST00000405472.3_Missense_Mutation_p.T1333N|NRXN1_ENST00000342183.5_Missense_Mutation_p.T276N|NRXN1_ENST00000406859.3_Missense_Mutation_p.T1311N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1311					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)			TTGCATGGCAGTGGCTGTTGA	0.498000													50	107					8.72198e-27	1.46922e-26	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55600186	55600186	+	Silent	SNP	G	G	T	rs142034111	byFrequency	TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:55600186G>T	ENST00000373965.2	-	30	4292	c.3898C>A	c.(3898-3900)Cgg>Agg	p.R1300R	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.R1256R|PCDH15_ENST00000395430.1_Silent_p.R1293R|PCDH15_ENST00000414778.1_Silent_p.R1298R|PCDH15_ENST00000395438.1_Silent_p.R1293R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.R1300R|PCDH15_ENST00000409834.1_Silent_p.R904R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Silent_p.R1222R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Silent_p.R1293R|PCDH15_ENST00000395433.1_Silent_p.R1271R|PCDH15_ENST00000361849.3_Silent_p.R1293R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1293					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	p.R1293W(1)|p.R1298W(1)		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)				TCTCCATGCCGGCGAGCTCCA	0.448000										HNSCC(58;0.16)			41	33					3.09479e-21	4.85743e-21	1	1	0
DSG3	1830	broad.mit.edu	37	18	29046556	29046556	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:29046556G>C	ENST00000257189.4	+	11	1558	c.1475G>C	c.(1474-1476)tGt>tCt	p.C492S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	492	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATGACAATTGTCCAACAGCT	0.398000													79	147					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039369	11039369	+	RNA	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr21:11039369G>T	ENST00000470054.1	-	0	834									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)		CACTTCAGAAGACATTTTCAT	0.348000													15	338					7.93312e-07	9.08813e-07	1	1	0
MIR412	574433	broad.mit.edu	37	14	101531849	101531849	+	RNA	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:101531849C>T	ENST00000362142.2	+	0	66					NR_030155.1																						TTCACCTGGTCCACTAGCCGT	0.602000													40	119					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460755	142460755	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:142460755C>A	ENST00000486171.1	+	6	687	c.670C>A	c.(670-672)Ctc>Atc	p.L224I	PRSS1_ENST00000311737.7_Missense_Mutation_p.L210I			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	210	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)			CAATGGACAGCTCCAAGGAGT	0.498000													20	114					1.96292e-10	2.45571e-10	1	1	0
SLC6A17	388662	broad.mit.edu	37	1	110709731	110709731	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:110709731G>T	ENST00000331565.4	+	2	665	c.180G>T	c.(178-180)cgG>cgT	p.R60R	RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	60					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)		CAGAGGACCGGCCGGCCTGGA	0.587000													10	9					4.68919e-08	5.57482e-08	1	1	0
HELB	92797	broad.mit.edu	37	12	66703641	66703641	+	Silent	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:66703641A>G	ENST00000247815.4	+	4	992	c.933A>G	c.(931-933)acA>acG	p.T311T		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	311					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ATGGGCACACATATGTTGAAG	0.383000													95	210					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43679537	43679537	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:43679537G>C	ENST00000404580.1	-	4	882	c.794C>G	c.(793-795)tCt>tGt	p.S265C	PSG5_ENST00000407356.1_Missense_Mutation_p.S265C|PSG5_ENST00000342951.6_Missense_Mutation_p.S265C|PSG5_ENST00000599812.1_Missense_Mutation_p.S358C|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Missense_Mutation_p.S265C			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	265	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CGGTGGGTTAGATTCCGCGAA	0.458000													132	244					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325633	31325633	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:31325633C>A	ENST00000269197.5	+	12	5821	c.5821C>A	c.(5821-5823)Ccc>Acc	p.P1941T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1941					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						TGCCAGGGGCCCCATTCCTAC	0.522000													34	59					9.65021e-13	1.29101e-12	1	1	0
ZNF644	84146	broad.mit.edu	37	1	91405265	91405265	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:91405265C>A	ENST00000370440.1	-	3	1863	c.1646G>T	c.(1645-1647)gGg>gTg	p.G549V	ZNF644_ENST00000337393.5_Missense_Mutation_p.G549V|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TACCACTGCCCCATGTGCAAT	0.393000													54	37					7.34454e-26	1.23026e-25	1	1	0
MIOS	54468	broad.mit.edu	37	7	7613240	7613240	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:7613240G>T	ENST00000340080.4	+	4	1555	c.1134G>T	c.(1132-1134)acG>acT	p.T378T	MIOS_ENST00000405785.1_Silent_p.T378T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	378										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATGAATGTACGGAAGAAGAAA	0.393000													52	70					8.04919e-23	1.28701e-22	1	1	0
CYP2B7P	1556	broad.mit.edu	37	19	41444902	41444902	+	RNA	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:41444902C>G	ENST00000599198.1	+	0	567					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CCTTCCTCTTCCATTCCATTA	0.517000													4	19					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54095673	54095673	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:54095673G>A	ENST00000502396.1	+	12	2912	c.2880G>A	c.(2878-2880)caG>caA	p.Q960Q	MLIP_ENST00000274897.5_Silent_p.Q425Q|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000358276.5_Intron			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	425						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GTGATGAACAGGAGAATTCTC	0.498000													52	156					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184571	130184571	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:130184571C>A	ENST00000422113.2	-	2	1078	c.752G>T	c.(751-753)cGg>cTg	p.R251L		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	251						integral to membrane		p.R251L(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTGGCCTGTCCGGATCCCATT	0.617000													57	58					3.76997e-23	6.06032e-23	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22807168	22807168	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:22807168C>G	ENST00000361524.3	-	4	862	c.714G>C	c.(712-714)gaG>gaC	p.E238D	ZNF521_ENST00000584787.1_Missense_Mutation_p.E18D|ZNF521_ENST00000538137.2_Missense_Mutation_p.E238D	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	238					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)					TCTTCCAGTCCTCCATCCTGG	0.527000			T	PAX5	ALL								35	66					0	0	1	0	0
FAM124B	79843	broad.mit.edu	37	2	225266225	225266225	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:225266225G>T	ENST00000389874.3	-	1	486	c.261C>A	c.(259-261)gaC>gaA	p.D87E	FAM124B_ENST00000243806.2_Missense_Mutation_p.D87E|FAM124B_ENST00000409685.3_Missense_Mutation_p.D87E	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	87							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GCTGGAGAGAGTCCAGGACGC	0.567000													7	52					0.00198382	0.00207037	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102510336	102510336	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:102510336G>T	ENST00000360184.4	+	70	12802	c.12638G>T	c.(12637-12639)cGg>cTg	p.R4213L	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4213	AAA 6 (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	p.R4213Q(1)		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						TCTGACCTGCGGTCAGCTTGC	0.547000													18	66					1.67942e-08	2.01665e-08	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54685273	54685273	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:54685273G>T	ENST00000545554.1	+	17	4741	c.4741G>T	c.(4741-4743)Gat>Tat	p.D1581Y	UNC13C_ENST00000537900.1_Missense_Mutation_p.D1579Y|UNC13C_ENST00000260323.11_Missense_Mutation_p.D1581Y			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1581					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCCTCGTGAAGATCAGGGACC	0.398000													25	41					9.90768e-06	1.10951e-05	1	1	0
ZNF106	64397	broad.mit.edu	37	15	42734441	42734441	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:42734441G>T	ENST00000263805.4	-	7	3850	c.3524C>A	c.(3523-3525)tCt>tAt	p.S1175Y	ZNF106_ENST00000565611.1_Missense_Mutation_p.S360Y|ZNF106_ENST00000565380.1_Missense_Mutation_p.S403Y	NM_022473.1	NP_071918.1			zinc finger protein 106																		TATTTGAAGAGAGGCTCCGGT	0.502000													24	65					2.21704e-12	2.92668e-12	1	1	0
DPY19L3	147991	broad.mit.edu	37	19	32928131	32928131	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:32928131A>C	ENST00000342179.5	+	6	697	c.482A>C	c.(481-483)tAc>tCc	p.Y161S	DPY19L3_ENST00000586987.1_Missense_Mutation_p.Y161S|DPY19L3_ENST00000392250.2_Missense_Mutation_p.Y161S	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	161						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TTTTATATTTACACCTTATTT	0.423000													18	75					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216152	20216152	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:20216152C>T	ENST00000331723.1	+	1	566	c.566C>T	c.(565-567)gCc>gTc	p.A189V		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A189V(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCAAGCTGGCCTGCATGGAC	0.483000													25	51					0	0	1	0	0
DEFB127	140850	broad.mit.edu	37	20	139530	139530	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:139530C>T	ENST00000382388.3	+	2	240	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	55					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ACTGTTGCCTCAATATCAAGG	0.403000													34	59					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661327	22661327	+	RNA	SNP	C	C	T	rs71316745	by1000genomes	TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr22:22661327C>T	ENST00000426066.1	+	0	360					NR_027293.1																						CTTTGACCCCCGTTACCCCAT	0.502000													4	48					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25743872	25743872	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr13:25743872G>T	ENST00000357816.2	-	3	2004	c.1529C>A	c.(1528-1530)cCc>cAc	p.P510H	AMER2_ENST00000515384.1_Missense_Mutation_p.P629H|AMER2_ENST00000381853.3_Missense_Mutation_p.P510H					APC membrane recruitment protein 2																		ACTCCTGGAGGGTTGCTGGTG	0.562000													47	68					1.19451e-25	1.97326e-25	1	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23830043	23830043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:23830043G>T	ENST00000264867.2	-	5	856	c.737C>A	c.(736-738)tCg>tAg	p.S246*	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	246					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGTGACTGCGACTGTGTGTG	0.493000													52	61					1.54886e-18	2.32135e-18	1	1	0
MMP26	56547	broad.mit.edu	37	11	5012688	5012688	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:5012688A>G	ENST00000380390.1	+	5	773	c.557A>G	c.(556-558)cAt>cGt	p.H186R	MMP26_ENST00000300762.1_Missense_Mutation_p.H186R			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	186					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGAGTTGTCCATTTTGACAAG	0.488000													97	164					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41736141	41736141	+	Splice_Site	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr22:41736141G>A	ENST00000352645.4	+	10	1395	c.1138_splice	c.e10+1	p.E380_splice	ZC3H7B_ENST00000351589.4_Splice_Site_p.E380_splice	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	396					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTCCTTCATGGGTAAGGCCAT	0.597000													9	16					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967770	58967770	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:58967770G>A	ENST00000391696.1	+	3	2361	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	ZNF324B_ENST00000336614.4_Missense_Mutation_p.G487S|ZNF324B_ENST00000545523.1_Missense_Mutation_p.G487S			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	487					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)		CACGCAGTGTGGCCGCGCCTT	0.677000													15	84					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52786159	52786159	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:52786159G>T	ENST00000216862.3	-	4	1005	c.612C>A	c.(610-612)taC>taA	p.Y204*	CYP24A1_ENST00000395954.3_Nonsense_Mutation_p.Y62*|CYP24A1_ENST00000395955.3_Nonsense_Mutation_p.Y204*	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	204					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCAGTTCGCTGTACAAGTCTT	0.418000													32	76					1.74807e-11	2.24805e-11	1	1	0
OR2T34	127068	broad.mit.edu	37	1	248737432	248737432	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:248737432G>A	ENST00000328782.2	-	1	648	c.627C>T	c.(625-627)atC>atT	p.I209I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	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;0.0265)			GAAGCATGAGGATGCAGCACA	0.537000													128	554					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768900	140768900	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:140768900C>A	ENST00000519479.1	+	1	1449	c.1449C>A	c.(1447-1449)ggC>ggA	p.G483G	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCAACGGCCAAGTCTCTT	0.592000													21	132					3.62473e-10	4.49707e-10	1	1	0
GLRA2	2742	broad.mit.edu	37	X	14625361	14625361	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chrX:14625361T>G	ENST00000218075.4	+	6	1216	c.686T>G	c.(685-687)cTt>cGt	p.L229R	GLRA2_ENST00000355020.4_Missense_Mutation_p.L229R|GLRA2_ENST00000443437.2_Missense_Mutation_p.L140R	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	229					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)	GAGAAGGAACTTGGCTACTGT	0.393000													35	92					0	0	1	0	0
R3HDML	140902	broad.mit.edu	37	20	42973947	42973947	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:42973947C>A	ENST00000217043.2	+	4	730	c.558C>A	c.(556-558)acC>acA	p.T186T		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	186						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCATCCACACCTGTAGTAGCA	0.582000													55	116					1.08141e-31	1.89642e-31	1	1	0
MYH4	4622	broad.mit.edu	37	17	10351409	10351409	+	Missense_Mutation	SNP	C	C	T	rs141756717	by1000genomes	TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:10351409C>T	ENST00000255381.2	-	34	4801	c.4691G>A	c.(4690-4692)cGc>cAc	p.R1564H	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1564					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AAGTTGAATGCGAAGAATTTT	0.338000													41	47					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206364714	206364714	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:206364714G>T	ENST00000406610.2	+	21	3346	c.3139G>T	c.(3139-3141)Gac>Tac	p.D1047Y	PARD3B_ENST00000358768.2_Missense_Mutation_p.D985Y|PARD3B_ENST00000351153.1_Missense_Mutation_p.D978Y|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000349953.3_Missense_Mutation_p.D946Y	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1047					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ATATGAAGACGACGAAGGAAG	0.468000													55	141					3.81248e-40	6.99344e-40	1	1	0
OR2M3	127062	broad.mit.edu	37	1	248366750	248366750	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:248366750C>T	ENST00000456743.1	+	1	419	c.381C>T	c.(379-381)tgC>tgT	p.C127C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			CTGCCATTTGCCACCCTCTAA	0.448000													65	738					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168112771	168112771	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:168112771G>T	ENST00000519560.1	-	31	3895	c.3476C>A	c.(3475-3477)aCt>aAt	p.T1159N	SLIT3_ENST00000404867.3_Missense_Mutation_p.T1159N|SLIT3_ENST00000332966.8_Missense_Mutation_p.T1166N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1159	Laminin G-like.				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)			GAAGTTGACAGTGATGAGCTT	0.657000													16	36					6.72482e-11	8.55626e-11	1	1	0
MT1H	4496	broad.mit.edu	37	16	56704483	56704483	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr16:56704483A>T	ENST00000569155.1	+	2	139	c.94A>T	c.(94-96)Agt>Tgt	p.S32C	MT1H_ENST00000332374.4_Splice_Site_p.S32_splice			P80294	MT1H_HUMAN	metallothionein 1H	32	Alpha.						metal ion binding|protein binding			lung(5)	5						CTGCAAGAAGAGTGAGTGCGG	0.587000													19	32					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181049	19181049	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:19181049G>A	ENST00000375371.3	-	3	936	c.915C>T	c.(913-915)gcC>gcT	p.A305A	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	305					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCGGGTCGATGGCCCAGGACT	0.632000													7	24					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557888	157557888	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:157557888G>T	ENST00000271532.1	-	4	464	c.329C>A	c.(328-330)cCa>cAa	p.P110Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	110	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CACAGAATATGGTGCCTGCAG	0.403000													17	54					2.5808e-16	3.75503e-16	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	85					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606501	55606501	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:55606501A>G	ENST00000378396.1	+	1	274	c.274A>G	c.(274-276)Aga>Gga	p.R92G		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGTAGAAGATAGAACCATTTC	0.413000													109	221					0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3703673	3703673	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:3703673C>T	ENST00000378251.1	-	2	844	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	273					translation		phenylalanine-tRNA ligase activity|RNA binding	p.E273K(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		tccGAGCCCTCGGCACGGCCC	0.672000													14	52					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538569	27538569	+	RNA	SNP	G	G	A	rs11015624	by1000genomes	TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:27538569G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CAGGTCCAAAGGTTGAACTGT	0.478000													10	176					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155115634	155115634	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:155115634C>A	ENST00000392825.3	+	8	1525	c.958C>A	c.(958-960)Ctt>Att	p.L320I	GALNT13_ENST00000409237.1_Missense_Mutation_p.L320I|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	320	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGGAGAGAATCTTGAAATGTC	0.383000													27	135					2.12542e-12	2.81194e-12	1	1	0
MPP2	4355	broad.mit.edu	37	17	41957272	41957272	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:41957272C>A	ENST00000269095.4	-	11	1535	c.1231G>T	c.(1231-1233)Gtc>Ttc	p.V411F	MPP2_ENST00000377184.3_Missense_Mutation_p.V428F|MPP2_ENST00000518766.1_Missense_Mutation_p.V456F|MPP2_ENST00000523501.1_Missense_Mutation_p.V400F|MPP2_ENST00000536246.1_Missense_Mutation_p.V400F|MPP2_ENST00000520305.1_Missense_Mutation_p.V272F|MPP2_ENST00000461854.1_Missense_Mutation_p.V435F	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	435	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCAGCACGGACGTCAGCCTCC	0.627000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	68					9.05144e-12	1.17669e-11	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31324355	31324355	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:31324355G>C	ENST00000269197.5	+	12	4543	c.4543G>C	c.(4543-4545)Gcg>Ccg	p.A1515P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1515					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						ACAGCCCGTGGCGTGTCCTCA	0.542000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	22					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777895	123777895	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:123777895G>T	ENST00000321355.2	+	1	787	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253W(1)		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)		TATGTTTTATGGGTCTCTGAT	0.448000													51	106					2.74695e-27	4.64033e-27	1	1	0
ANKDD1A	348094	broad.mit.edu	37	15	65208028	65208028	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:65208028G>T	ENST00000380230.3	+	2	96	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.A23S|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.A23S|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000319580.8_Intron|ANKDD1A_ENST00000496660.1_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	23					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CCACGAGGCCGCCCGCCAGAA	0.592000													6	35					0.000157383	0.000170499	1	1	0
FUT9	10690	broad.mit.edu	37	6	96651655	96651655	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:96651655G>A	ENST00000302103.5	+	3	950	c.624G>A	c.(622-624)gaG>gaA	p.E208E		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	208					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATTACAATGAGCTAAGCAAAA	0.388000													22	15					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21078694	21078694	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr16:21078694G>A	ENST00000261383.3	-	24	3427	c.3428C>T	c.(3427-3429)gCa>gTa	p.A1143V	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1143V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1143	Stem (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)		AAGCTTCTCTGCCATCCGTGG	0.468000													17	142					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40015368	40015368	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr22:40015368C>A	ENST00000336649.4	+	6	536	c.536C>A	c.(535-537)aCc>aAc	p.T179N	CACNA1I_ENST00000400164.3_Missense_Mutation_p.T179N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.T179N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.T179N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.T179N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.T179N			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	179					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCCATCCGCACCGTGCGCGTC	0.617000													23	66					6.44725e-10	7.93304e-10	1	1	0
OR10X1	128367	broad.mit.edu	37	1	158549135	158549135	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:158549135G>A	ENST00000368150.1	-	1	554	c.555C>T	c.(553-555)tgC>tgT	p.C185C		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGTTGGGTCTGCAGAAAGAGT	0.433000													13	127					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76570861	76570861	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:76570861C>A	ENST00000389840.5	-	2	403	c.279G>T	c.(277-279)agG>agT	p.R93S	DNAH17_ENST00000585328.1_Missense_Mutation_p.R93S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGAGCCGGGCCCTGTAGTTGT	0.592000													35	83					1.36161e-19	2.06661e-19	1	1	0
CPNE3	8895	broad.mit.edu	37	8	87559999	87559999	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:87559999G>T	ENST00000521271.1	+	11	1041		c.e11+1		CPNE3_ENST00000198765.4_Splice_Site	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III						lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GAATTTTACTGTAAGTAACAC	0.318000													12	11					1.05317e-09	1.2853e-09	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167731	140167731	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:140167731G>A	ENST00000504120.2	+	1	1856	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R619H	NM_018900.2	NP_061723.1												p.R619H(2)		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)			GGCGGCGCGCGCATCCCGTTC	0.667000													24	118					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161505591	161505591	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:161505591G>A	ENST00000392142.4	+	7	2462	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	MAP3K4_ENST00000366919.2_Missense_Mutation_p.E772K|MAP3K4_ENST00000348824.7_Missense_Mutation_p.E772K|MAP3K4_ENST00000366920.2_Missense_Mutation_p.E772K	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	772					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGGCTTACAGGAGAGCTGTGC	0.413000													24	23					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400490	40400490	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:40400490C>A	ENST00000338305.6	-	2	905	c.363G>T	c.(361-363)cgG>cgT	p.R121R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	121						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGACCAGGCCCCGGAGGGTGT	0.587000													16	22					0.479597	0.481206	1	1	0
RADIL	55698	broad.mit.edu	37	7	4862170	4862170	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:4862170C>A	ENST00000399583.3	-	6	1657	c.1470G>T	c.(1468-1470)tcG>tcT	p.S490S	RADIL_ENST00000538469.1_Silent_p.S250S|RADIL_ENST00000536091.1_Intron	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	490					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGCTGGCCAGCGAGATGGGCT	0.527000													13	52					0.000308642	0.000331957	1	1	0
SNX18	112574	broad.mit.edu	37	5	53814156	53814156	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:53814156G>T	ENST00000343017.6	+	1	568	c.374G>T	c.(373-375)gGc>gTc	p.G125V	SNX18_ENST00000326277.3_Missense_Mutation_p.G125V|SNX18_ENST00000381410.4_Missense_Mutation_p.G125V	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	125					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CCCGGCGCGGGCTTCCCGTAC	0.741000													3	2					0.0215528	0.0220694	1	1	0
AVPR1A	552	broad.mit.edu	37	12	63541410	63541410	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:63541410G>T	ENST00000299178.2	-	2	1091	c.986C>A	c.(985-987)aCc>aAc	p.T329N		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	329					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GATGGTGATGGTAGGGTTTTC	0.368000													51	103					2.76378e-25	4.5405e-25	1	1	0
LRTM1	57408	broad.mit.edu	37	3	54952669	54952669	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:54952669G>A	ENST00000273286.5	-	3	1017	c.855C>T	c.(853-855)gcC>gcT	p.A285A	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Silent_p.A209A|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	285						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CAGTGGCAATGGCATGACGCA	0.582000													29	66					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265493	10265493	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:10265493C>G	ENST00000418404.3	-	4	610	c.447G>C	c.(445-447)caG>caC	p.Q149H	MYH13_ENST00000252172.4_Missense_Mutation_p.Q149H|MYH13_ENST00000570743.1_Missense_Mutation_p.Q149H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	149	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						GCGGGGCCTCCTGGCGCTTTT	0.517000													32	122					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28662387	28662387	+	Nonsense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:28662387A>T	ENST00000280904.6	-	9	1523	c.1080T>A	c.(1078-1080)taT>taA	p.Y360*	DSC2_ENST00000251081.6_Nonsense_Mutation_p.Y360*	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	360	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTGATGTCACATACTAAAATA	0.318000													22	52					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42449194	42449194	+	Splice_Site	SNP	G	G	T	rs147805077		TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:42449194G>T	ENST00000282030.5	+	3	782		c.e3-1		SETBP1_ENST00000426838.4_Splice_Site	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1							nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTCTTTTGCAGCTCCTCACAG	0.433000									Schinzel-Giedion syndrome				29	67					6.50621e-10	7.98915e-10	1	1	0
SF3A2	8175	broad.mit.edu	37	19	2247831	2247831	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:2247831C>T	ENST00000221494.4	+	9	1099	c.681C>T	c.(679-681)ccC>ccT	p.P227P		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	227	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		CTGCTGGCCCCCCTGGGGTGA	0.667000													24	48					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19295156	19295156	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:19295156C>T	ENST00000328405.2	+	2	353	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	29	PAS.					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						ATAGCAACTTCATCCTTGCCA	0.418000													30	162					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675475	100675475	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:100675475G>T	ENST00000306151.4	+	3	842	c.778G>T	c.(778-780)Gct>Tct	p.A260S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	260	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)					TCCTACAACTGCTGAAGGTCC	0.507000													135	214					4.39993e-52	8.35289e-52	1	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140762746	140762746	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:140762746G>A	ENST00000518325.1	+	1	280	c.280G>A	c.(280-282)Gag>Aag	p.E94K	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1												p.E94Q(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCGGGAAGAGATCTGCGC	0.512000													40	80					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79118131	79118131	+	Silent	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr9:79118131C>G	ENST00000442371.1	+	3	1773	c.834C>G	c.(832-834)ctC>ctG	p.L278L	GCNT1_ENST00000376730.4_Silent_p.L278L|GCNT1_ENST00000536223.1_Silent_p.L278L|GCNT1_ENST00000444201.2_Silent_p.L278L	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	278	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						TTCCTCCACTCGAAACACCTC	0.458000													18	100					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54416314	54416314	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:54416314C>A	ENST00000296733.1	-	10	1454	c.1280G>T	c.(1279-1281)cGc>cTc	p.R427L	CDC20B_ENST00000381375.2_Missense_Mutation_p.R427L|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Intron	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	427										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GATGTGTAAGCGTCCATCCTT	0.468000													59	97					7.47603e-22	1.19218e-21	1	1	0
CYP2A13	1553	broad.mit.edu	37	19	41597750	41597750	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:41597750G>T	ENST00000330436.3	+	5	768	c.768G>T	c.(766-768)caG>caT	p.Q256H		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	256					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AGCACAACCAGCGCACGCTGG	0.577000													33	45					9.17885e-22	1.45596e-21	1	1	0
GOPC	57120	broad.mit.edu	37	6	117888158	117888158	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:117888158C>T	ENST00000535237.1	-	8	1346	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	GOPC_ENST00000368498.2_Missense_Mutation_p.E373K|GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Missense_Mutation_p.E365K|DCBLD1_ENST00000296955.8_Intron					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		GAATCCACTTCAGGAGCCACA	0.368000			O	ROS1	glioblastoma								22	13					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000637	52000637	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:52000637G>T	ENST00000291707.3	-	6	1523	c.1468C>A	c.(1468-1470)Ctg>Atg	p.L490M	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.L372M	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	490					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGGAAGACCAGGGCTGTGGCT	0.557000													30	71					3.76114e-14	5.18239e-14	1	1	0
RAD54L2	23132	broad.mit.edu	37	3	51694122	51694122	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:51694122A>T	ENST00000409535.1	+	21	3522	c.3397A>T	c.(3397-3399)Atg>Ttg	p.M1133L	RAD54L2_ENST00000296477.3_Missense_Mutation_p.M827L	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1133						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGATGGTCGGATGGCTGCCTC	0.418000													4	18					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585052	7585052	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:7585052G>T	ENST00000379802.3	+	24	7898	c.7557G>T	c.(7555-7557)ctG>ctT	p.L2519L	DSP_ENST00000418664.2_Silent_p.L1920L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2519	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGGTGGTCCTGGTAGATAGAA	0.458000													23	88					1.50039e-11	1.93787e-11	1	1	0
FLT3	2322	broad.mit.edu	37	13	28636182	28636182	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr13:28636182C>A	ENST00000380982.4	-	3	271	c.190G>T	c.(190-192)Ggg>Tgg	p.G64W	FLT3_ENST00000537084.1_Missense_Mutation_p.G64W|FLT3_ENST00000241453.7_Missense_Mutation_p.G64W			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	64					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AACGCACACCCGAGGTCTTCC	0.512000			"""Mis, O"""		"""AML, ALL"""								36	65					2.40579e-17	3.56105e-17	1	1	0
KRTAP19-6	337973	broad.mit.edu	37	21	31913989	31913989	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr21:31913989G>T	ENST00000334046.5	-	1	194	c.164C>A	c.(163-165)tCt>tAt	p.S55Y		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	55						intermediate filament				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						GTAGAATCCAGAGAATCCATA	0.463000													62	142					1.08241e-25	1.79302e-25	1	1	0
AVPR1A	552	broad.mit.edu	37	12	63544089	63544089	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:63544089C>A	ENST00000299178.2	-	1	633	c.528G>T	c.(526-528)gtG>gtT	p.V176V		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	176					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGAAGCTCAGCACCCAGGCGG	0.637000													36	66					3.33393e-15	4.7696e-15	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40433821	40433821	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:40433821C>A	ENST00000221347.6	-	2	455	c.448G>T	c.(448-450)Ggc>Tgc	p.G150C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	150	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGAGGTGCCGGGGGGTGTG	0.607000													27	48					7.76418e-22	1.23484e-21	1	1	0
DRP2	1821	broad.mit.edu	37	X	100509461	100509461	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chrX:100509461C>A	ENST00000395209.3	+	18	2552	c.2025C>A	c.(2023-2025)aaC>aaA	p.N675K	DRP2_ENST00000541709.1_Missense_Mutation_p.N597K|DRP2_ENST00000402866.1_Missense_Mutation_p.N675K|DRP2_ENST00000538510.1_Missense_Mutation_p.N675K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	675					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCTTAAAGAACAAATTCCGCT	0.493000													11	36					0.000978159	0.00102801	1	1	0
KBTBD3	143879	broad.mit.edu	37	11	105923631	105923631	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:105923631C>A	ENST00000526793.1	-	3	1944	c.1785G>T	c.(1783-1785)caG>caT	p.Q595H	KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q595H|KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q516H	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	591										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ACTGAATCACCTGGCAGTAAA	0.383000													33	74					4.74835e-14	6.52762e-14	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48691216	48691216	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:48691216C>T	ENST00000544264.1	-	9	5564	c.5284G>A	c.(5284-5286)Gcc>Acc	p.A1762T	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1762T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1762					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)		TGGGGATGGGCCATAGCTGAG	0.577000													41	62					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77709393	77709393	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:77709393G>T	ENST00000328313.5	+	3	1172	c.951G>T	c.(949-951)gaG>gaT	p.E317D		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	317					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGTTCCCCGAGGCCTTCCACT	0.612000													62	43					8.4772e-36	1.52233e-35	1	1	0
DYRK1B	9149	broad.mit.edu	37	19	40316442	40316442	+	Silent	SNP	T	T	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:40316442T>G	ENST00000593685.1	-	11	2271	c.1803A>C	c.(1801-1803)ccA>ccC	p.P601P	DYRK1B_ENST00000430012.2_Silent_p.P561P|DYRK1B_ENST00000597639.1_Silent_p.P573P|DYRK1B_ENST00000348817.3_Silent_p.P573P|DYRK1B_ENST00000323039.5_Silent_p.P601P			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	601					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCGGGAGGGGTGGACGACCTC	0.716000													5	4					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52661509	52661509	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr13:52661509C>G	ENST00000355568.4	-	15	1496	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	453							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AATGGCAGCTCCTGGAATCTA	0.383000													16	110					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333452	70333452	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:70333452C>A	ENST00000373644.4	+	2	1566	c.1357C>A	c.(1357-1359)Caa>Aaa	p.Q453K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	453					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCCTGAGCCCCAAAGCACTGT	0.473000													29	38					9.39395e-14	1.28549e-13	1	1	0
SLC4A8	9498	broad.mit.edu	37	12	51863414	51863414	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:51863414G>T	ENST00000453097.2	+	12	1583	c.1366G>T	c.(1366-1368)Gtg>Ttg	p.V456L	SLC4A8_ENST00000394856.1_Missense_Mutation_p.V403L|SLC4A8_ENST00000514353.3_Missense_Mutation_p.V403L|SLC4A8_ENST00000535225.2_Missense_Mutation_p.V403L|SLC4A8_ENST00000358657.3_Missense_Mutation_p.V483L|SLC4A8_ENST00000546663.1_3'UTR	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	456					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)		TGGGGGCTTGGTGCTGGACAT	0.498000													25	48					3.28513e-13	4.44458e-13	1	1	0
LMBRD2	92255	broad.mit.edu	37	5	36117968	36117968	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:36117968C>T	ENST00000296603.4	-	10	1633	c.1171G>A	c.(1171-1173)Gtg>Atg	p.V391M		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	391						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACAGAACCACAGCAAGTATC	0.408000													11	48					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064694	7064694	+	Silent	SNP	C	C	T	rs141145409		TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:7064694C>T	ENST00000299481.4	+	4	1783	c.1437C>T	c.(1435-1437)acC>acT	p.T479T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	479	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGTGTTCACCCACCTTCATG	0.418000													38	91					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20685413	20685413	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:20685413C>A	ENST00000404938.2	+	8	1365	c.713C>A	c.(712-714)gCc>gAc	p.A238D		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	424					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAATTAAGTGCCTATTCCAAA	0.403000													17	69					2.23348e-06	2.53921e-06	1	1	0
TLDC2	140711	broad.mit.edu	37	20	35504605	35504605	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:35504605C>A	ENST00000217320.3	+	1	72	c.28C>A	c.(28-30)Cgg>Agg	p.R10R	TLDC2_ENST00000602922.1_Silent_p.R10R	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		GCGTTACACTCGGCTGGTAAG	0.632000													45	94					1.48734e-19	2.25171e-19	1	1	0
CYTIP	9595	broad.mit.edu	37	2	158272292	158272292	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:158272292C>A	ENST00000264192.3	-	8	1098	c.977G>T	c.(976-978)gGg>gTg	p.G326V	CYTIP_ENST00000540637.1_Missense_Mutation_p.G220V	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	326					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GGGCAGGGTCCCAAACATGCT	0.512000													35	69					3.90053e-15	5.54042e-15	1	1	0
LRRC4B	94030	broad.mit.edu	37	19	51021092	51021092	+	Silent	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:51021092G>C	ENST00000599957.1	-	3	2075	c.1878C>G	c.(1876-1878)gcC>gcG	p.A626A	LRRC4B_ENST00000389201.3_Silent_p.A626A			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	626						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)		CGGCCGAGGCGGCGGGCAGCT	0.726000													15	19					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811349	5811349	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chrX:5811349G>T	ENST00000381095.3	-	6	2587	c.1960C>A	c.(1960-1962)Cac>Aac	p.H654N	NLGN4X_ENST00000381093.2_Missense_Mutation_p.H674N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.H654N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.H654N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.H654N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	654					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCTGTTTTGTGAGGGTCCTTA	0.527000													84	75					1.63847e-34	2.91608e-34	1	1	0
FAT4	79633	broad.mit.edu	37	4	126408608	126408608	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:126408608A>T	ENST00000394329.3	+	16	12938	c.12925A>T	c.(12925-12927)Att>Ttt	p.I4309F	FAT4_ENST00000335110.5_Missense_Mutation_p.I2550F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4309	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACTTTTCTAATTGGGAAAAA	0.413000													23	93					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159172958	159172958	+	Splice_Site	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:159172958A>T	ENST00000297239.9	+	12	1228		c.e12-1		SYTL3_ENST00000360448.3_Splice_Site|SYTL3_ENST00000367081.3_Splice_Site			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3						intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTTGGCCCCTAGGTATGTGAA	0.552000													13	14					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228491478	228491478	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:228491478G>T	ENST00000570156.2	+	52	13915	c.13841G>T	c.(13840-13842)tGg>tTg	p.W4614L	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.W1304L|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3657	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCGTGGAGTGGCGGAAGGGG	0.612000													67	130					3.13743e-37	5.70268e-37	1	1	0
FAT3	120114	broad.mit.edu	37	11	92531882	92531882	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:92531882G>T	ENST00000298047.6	+	9	5720	c.5703G>T	c.(5701-5703)gaG>gaT	p.E1901D	FAT3_ENST00000409404.2_Missense_Mutation_p.E1901D|FAT3_ENST00000525166.1_Missense_Mutation_p.E1751D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1901	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTGGAGTGGAGGTTCTGAAAG	0.423000										TCGA Ovarian(4;0.039)			8	42					0.00307968	0.00319731	1	1	0
PTPRC	5788	broad.mit.edu	37	1	198718600	198718600	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:198718600G>A	ENST00000367376.2	+	28	3159	c.2988G>A	c.(2986-2988)gaG>gaA	p.E996E	PTPRC_ENST00000442510.2_Silent_p.E998E|PTPRC_ENST00000594404.1_Silent_p.E835E|PTPRC_ENST00000352140.3_Silent_p.E948E|PTPRC_ENST00000348564.6_Silent_p.E837E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	996	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAGAGAGTGAGCATGATTCAG	0.338000													55	50					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117389	46117389	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr21:46117389G>T	ENST00000400365.3	+	1	303	c.273G>T	c.(271-273)caG>caT	p.Q91H	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	91	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CTAGCTGCCAGCCGGCTTGCT	0.662000													43	186					8.01111e-26	1.33444e-25	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12294347	12294347	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:12294347G>T	ENST00000358136.3	+	2	154	c.24G>T	c.(22-24)tgG>tgT	p.W8C	VPS13D_ENST00000356315.4_Missense_Mutation_p.W8C	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	8					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)		TTGTAGCCTGGGTTCTCAATA	0.398000													22	50					1.64293e-13	2.2329e-13	1	1	0
RBM19	9904	broad.mit.edu	37	12	114400175	114400175	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:114400175C>T	ENST00000545145.2	-	2	159	c.81G>A	c.(79-81)acG>acA	p.T27T	RBM19_ENST00000392561.3_Silent_p.T27T|RBM19_ENST00000261741.5_Silent_p.T27T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	27	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AGTCTGTCAGCGTGCCGAAGG	0.537000													31	75					0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469541	72469541	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:72469541G>T	ENST00000296776.5	+	1	520	c.471G>T	c.(469-471)ctG>ctT	p.L157L	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	157						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CCAGCTACCTGCAGTCTGTGG	0.547000													44	69					1.61572e-30	2.80873e-30	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104778578	104778578	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:104778578A>G	ENST00000406091.3	+	3	511	c.511A>G	c.(511-513)Aga>Gga	p.R171G		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	202	RabBD.				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)			TCGAGGGCTAAGAAATGAGGA	0.443000										HNSCC(12;0.0054)			29	34					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619399	64619399	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:64619399C>A	ENST00000498707.1	-	13	2355	c.2013G>T	c.(2011-2013)gtG>gtT	p.V671V	ADAMTS9_ENST00000295903.4_Silent_p.V643V	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	671	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGACCCAGCGCACATTGGGAA	0.512000													111	225					8.46469e-41	1.56715e-40	1	1	0
TMOD1	7111	broad.mit.edu	37	9	100326379	100326379	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr9:100326379G>T	ENST00000395211.2	+	6	683	c.547G>T	c.(547-549)Gta>Tta	p.V183L	TMOD1_ENST00000375175.1_Missense_Mutation_p.V56L|TMOD1_ENST00000259365.3_Missense_Mutation_p.V183L	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1	183					muscle filament sliding	cytosol	actin binding	p.V183L(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TTCAACAGACGTAGAGGAAAC	0.443000													6	25					0.0215528	0.0220694	1	1	0
DPY19L2	283417	broad.mit.edu	37	12	64017820	64017820	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:64017820C>A	ENST00000324472.4	-	8	1136	c.953_splice	c.e8+1	p.R318_splice	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	318					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCGAAGTTACCTGAGAATCAA	0.373000													11	24					0.000673444	0.000712778	1	1	0
CSNK1G2	1455	broad.mit.edu	37	19	1979928	1979928	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:1979928G>T	ENST00000255641.8	+	11	1600	c.1105G>T	c.(1105-1107)Ggg>Tgg	p.G369W		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	369					sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		CTCCACCAACGGGGAGCTGAA	0.692000													4	19					0.150653	0.152438	1	1	0
OASL	8638	broad.mit.edu	37	12	121476600	121476600	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:121476600C>A	ENST00000257570.5	-	1	445	c.175G>T	c.(175-177)Gtg>Ttg	p.V59L	OASL_ENST00000339275.5_Missense_Mutation_p.V59L	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	59					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCACCCGCACATCCTGGTCC	0.612000													12	36					0.000978159	0.00102801	1	1	0
TYRO3	7301	broad.mit.edu	37	15	41864670	41864670	+	Missense_Mutation	SNP	C	C	T	rs148583498		TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:41864670C>T	ENST00000263798.3	+	15	2007	c.1783C>T	c.(1783-1785)Cgt>Tgt	p.R595C	TYRO3_ENST00000559066.1_Missense_Mutation_p.R550C	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	595	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCTAAAGGCCGTCTCCCCAT	0.592000													20	67					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552098	178552098	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:178552098G>T	ENST00000251582.7	-	19	2935	c.2834C>A	c.(2833-2835)cCg>cAg	p.P945Q		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	945	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTCGTGTAGCGGCTGAATGCA	0.692000													51	129					3.07002e-29	5.26037e-29	1	1	0
ABCG5	64240	broad.mit.edu	37	2	44049935	44049935	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:44049935C>A	ENST00000543989.1	-	6	1984		c.e6+1		ABCG5_ENST00000405322.1_Splice_Site|ABCG5_ENST00000260645.1_Splice_Site			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5						cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAACCCCTCACCAGTAGCACA	0.582000													12	36					1.05317e-09	1.2853e-09	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25470966	25470966	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:25470966C>A	ENST00000264709.3	-	7	1132	c.795G>T	c.(793-795)gtG>gtT	p.V265V	DNMT3A_ENST00000321117.5_Silent_p.V265V|DNMT3A_ENST00000380746.4_Silent_p.V76V|DNMT3A_ENST00000402667.1_Silent_p.V42V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	265	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCGGACCCCACGGGCTCAG	0.662000			"""Mis, F, N, S"""		AML								35	66					9.45814e-24	1.52864e-23	1	1	0
MAGEB2	4113	broad.mit.edu	37	X	30237051	30237051	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chrX:30237051G>T	ENST00000378988.4	+	2	455	c.354G>T	c.(352-354)ttG>ttT	p.L118F		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	118	MAGE.						protein binding	p.L118F(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CAGGGTCGTTGGTGCAGTTCC	0.463000													4	5					0.150653	0.152438	1	1	0
KCND3	3752	broad.mit.edu	37	1	112525136	112525136	+	Missense_Mutation	SNP	C	C	A	rs74392775		TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:112525136C>A	ENST00000369697.1	-	1	282	c.213G>T	c.(211-213)aaG>aaT	p.K71N	KCND3_ENST00000315987.2_Missense_Mutation_p.K71N|KCND3_ENST00000302127.4_Missense_Mutation_p.K71N			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	71						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGAAGAACTCCTTCTCCGTGC	0.607000													18	35					3.52763e-06	3.98023e-06	1	1	0
MARK4	57787	broad.mit.edu	37	19	45766420	45766420	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:45766420A>C	ENST00000300843.4	+	3	599	c.302A>C	c.(301-303)cAg>cCg	p.Q101P	MARK4_ENST00000262891.4_Missense_Mutation_p.Q101P	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	101	Protein kinase.				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)		AGCAGCCTGCAGAAGGTGAGG	0.642000													8	18					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123988582	123988582	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:123988582G>T	ENST00000456829.2	+	4	497	c.246_splice	c.e4+1	p.K82_splice	VWA5A_ENST00000392748.1_Splice_Site_p.K82_splice|VWA5A_ENST00000361352.5_Splice_Site_p.K82_splice|VWA5A_ENST00000392744.4_Splice_Site_p.K98_splice|VWA5A_ENST00000360334.4_Splice_Site_p.K82_splice|VWA5A_ENST00000449321.1_Splice_Site_p.K82_splice	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	82	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ACAAGATGAAGGTAGTAGAGA	0.398000													32	48					2.61193e-14	3.62398e-14	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57189575	57189575	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:57189575G>T	ENST00000504228.1	+	7	3325	c.3220G>T	c.(3220-3222)Gat>Tat	p.D1074Y	KIAA1211_ENST00000541073.1_Missense_Mutation_p.D1067Y|KIAA1211_ENST00000264229.6_Missense_Mutation_p.D1074Y			Q6ZU35	K1211_HUMAN	KIAA1211	1074										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)					ACACTCCTTAGATGGCTCCAA	0.507000													11	48					3.07112e-06	3.4717e-06	1	1	0
GMDS	2762	broad.mit.edu	37	6	1624766	1624766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:1624766G>A	ENST00000380815.4	-	10	1266	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	GMDS_ENST00000530927.1_Nonsense_Mutation_p.Q303*|GMDS_ENST00000467288.2_5'UTR	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	333					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CAGTCGCCCTGCAGAAAGTCC	0.662000													4	27					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974343	44974343	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:44974343C>A	ENST00000340446.4	-	1	2139	c.1848G>T	c.(1846-1848)gaG>gaT	p.E616D		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	616	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CGGGGGCCTCCTCAGCTGGTG	0.612000													14	37					3.41278e-10	4.25176e-10	1	1	0
FGF6	2251	broad.mit.edu	37	12	4554424	4554424	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:4554424G>A	ENST00000228837.2	-	1	356	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	105					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)			CCGCTGATCCGGCCGTCGGGG	0.622000													4	24					0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870489	129870489	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr9:129870489G>T	ENST00000373425.3	-	2	1139	c.522C>A	c.(520-522)agC>agA	p.S174R	RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	174					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CCTTGTACTTGCTGGCCAGCT	0.597000													10	30					7.48243e-07	8.58828e-07	1	1	0
TNFSF11	8600	broad.mit.edu	37	13	43174903	43174903	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr13:43174903G>T	ENST00000398795.2	+	3	552	c.184G>T	c.(184-186)Gtt>Ttt	p.V62F	TNFSF11_ENST00000544862.1_Missense_Mutation_p.V62F|TNFSF11_ENST00000239849.6_Missense_Mutation_p.V135F|TNFSF11_ENST00000405262.2_Missense_Mutation_p.V62F|TNFSF11_ENST00000358545.2_Missense_Mutation_p.V62F	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	135					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		ACAACATATCGTTGGATCACA	0.328000													12	44					0.000978159	0.00102801	1	1	0
SMOC2	64094	broad.mit.edu	37	6	168944338	168944338	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:168944338G>T	ENST00000354536.5	+	5	717	c.497G>T	c.(496-498)gGc>gTc	p.G166V	SMOC2_ENST00000356284.2_Missense_Mutation_p.G166V	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	166					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CAACGCGAAGGCACAGGAAAA	0.333000													5	9					5.9392e-07	6.84324e-07	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885699	88885699	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:88885699G>T	ENST00000319675.3	-	1	597	c.501C>A	c.(499-501)agC>agA	p.S167R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	167										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCCTGGGAAGCTACCTATGA	0.562000													46	69					9.39024e-22	1.48555e-21	1	1	0
APOC3	345	broad.mit.edu	37	11	116701583	116701583	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:116701583G>T	ENST00000375345.1	+	3	266	c.204G>T	c.(202-204)gtG>gtT	p.V68V	APOC3_ENST00000227667.3_Silent_p.V50V|APOC3_ENST00000470144.1_3'UTR			P02656	APOC3_HUMAN	apolipoprotein C-III	50	Lipid-binding.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGAGCAGCGTGCAGGAGTCCC	0.662000													16	26					1.02788e-11	1.33335e-11	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105410888	105410888	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:105410888T>C	ENST00000333244.5	-	7	11019	c.10900A>G	c.(10900-10902)Aaa>Gaa	p.K3634E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3634						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)			TTGCTGTCTTTGGCAGTCACG	0.597000													81	337					0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36930854	36930854	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:36930854A>G	ENST00000373674.3	+	5	1064	c.736A>G	c.(736-738)Aca>Gca	p.T246A	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	246						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTTGGTAACAGAGGTCTC	0.567000													25	103					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273557	162273557	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:162273557C>T	ENST00000389554.3	+	1	953	c.636C>T	c.(634-636)ccC>ccT	p.P212P		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	212						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GCAACAGGCCCCTTTGGCTGA	0.577000													31	89					0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15300517	15300517	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:15300517G>A	ENST00000383791.3	-	7	930	c.710C>T	c.(709-711)aCc>aTc	p.T237I	SH3BP5_ENST00000408919.3_Missense_Mutation_p.T80I|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5_ENST00000253688.5_Missense_Mutation_p.T80I|SH3BP5_ENST00000426925.1_Missense_Mutation_p.T80I	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	237					intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TTTTGCCAGGGTCAGTTTGGC	0.537000													28	35					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468894	10468894	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:10468894G>T	ENST00000382483.3	-	4	2937	c.2714C>A	c.(2713-2715)tCa>tAa	p.S905*		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	905					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)		TGATGCCCCTGAATTGGGGCC	0.716000													7	9					0.0381472	0.038796	1	1	0
KCNAB1	7881	broad.mit.edu	37	3	156249251	156249251	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:156249251C>A	ENST00000302490.8	+	13	1952	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	KCNAB1_ENST00000471742.1_Missense_Mutation_p.P368T|KCNAB1_ENST00000389634.5_Missense_Mutation_p.P332T|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Missense_Mutation_p.P350T|KCNAB1_ENST00000490337.1_Missense_Mutation_p.P379T	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	379						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATCATCCACTCCTGAACAACT	0.502000													64	106					1.02487e-32	1.80257e-32	1	1	0
DYRK1A	1859	broad.mit.edu	37	21	38865332	38865332	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr21:38865332T>G	ENST00000339659.3	+	7	2408	c.938T>G	c.(937-939)aTt>aGt	p.I313S	DYRK1A_ENST00000398956.2_Missense_Mutation_p.I322S|DYRK1A_ENST00000451934.1_Missense_Mutation_p.I322S|DYRK1A_ENST00000338785.3_Missense_Mutation_p.I322S|DYRK1A_ENST00000455387.2_Missense_Mutation_p.I94S|DYRK1A_ENST00000321219.8_Missense_Mutation_p.I322S|DYRK1A_ENST00000398960.2_Missense_Mutation_p.I322S	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	322	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TACCAGTATATTCAGAGTCGC	0.368000													18	101					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44491060	44491060	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:44491060C>A	ENST00000425708.2	-	6	1217	c.876G>T	c.(874-876)tgG>tgT	p.W292C	ZNF445_ENST00000396077.2_Missense_Mutation_p.W292C			P59923	ZN445_HUMAN	zinc finger protein 445	292	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGTTCAGGCCCCATGGCTCCC	0.547000													21	43					2.89027e-11	3.69312e-11	1	1	0
VPS39	23339	broad.mit.edu	37	15	42461932	42461932	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:42461932T>C	ENST00000318006.5	-	12	1385	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	VPS39_ENST00000348544.4_Missense_Mutation_p.Y419C	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	419					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CTGTGTCAGGTAGTCAATCAG	0.493000													14	40					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395980	47395980	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:47395980T>A	ENST00000310638.4	-	12	1398	c.1367A>T	c.(1366-1368)aAc>aTc	p.N456I	CYP4A11_ENST00000371904.4_Missense_Mutation_p.N457I|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	456					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CCCGATGCAGTTCCTGGGCCA	0.577000													33	95					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121350731	121350731	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:121350731C>T	ENST00000314583.3	-	14	1514	c.1423G>A	c.(1423-1425)Gga>Aga	p.G475R	HCLS1_ENST00000428394.2_Missense_Mutation_p.G438R|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	475	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GGGAAGAGTCCAAAGTGGCCA	0.527000													31	70					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27121538	27121538	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:27121538G>T	ENST00000288699.6	+	2	329	c.171G>T	c.(169-171)ctG>ctT	p.L57L	DPYSL5_ENST00000401478.1_Silent_p.L57L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	57					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGAAAACTGGTGATCCCTG	0.577000													33	53					2.08457e-15	2.99657e-15	1	1	0
MPPED1	758	broad.mit.edu	37	22	43870810	43870810	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr22:43870810G>T	ENST00000417669.1	+	4	1045	c.601G>T	c.(601-603)Gtg>Ttg	p.V201L	MPPED1_ENST00000414469.2_Missense_Mutation_p.V95L|MPPED1_ENST00000443721.1_Missense_Mutation_p.V201L|MPPED1_ENST00000542779.1_Missense_Mutation_p.V201L|MPPED1_ENST00000439548.1_Missense_Mutation_p.V43L|MPPED1_ENST00000538182.1_Missense_Mutation_p.V234L			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	201							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGAGGTCACCGTGCGGGGCTT	0.592000													19	33					1.55795e-14	2.18698e-14	1	1	0
RTEL1	51750	broad.mit.edu	37	20	62322178	62322178	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:62322178C>T	ENST00000318100.4	+	27	3261	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.P812S|RTEL1_ENST00000370018.3_Missense_Mutation_p.P812S|RTEL1_ENST00000360203.5_Missense_Mutation_p.P812S|RTEL1_ENST00000508582.2_Missense_Mutation_p.P836S|RTEL1_ENST00000370003.1_Missense_Mutation_p.P57S			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	812					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TGCCGGGGACCCCGAGAGTAG	0.711000													4	8					0	0	1	0	0
NAPA	8775	broad.mit.edu	37	19	47996260	47996260	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:47996260C>A	ENST00000263354.3	-	7	818	c.519G>T	c.(517-519)gcG>gcT	p.A173A	NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Silent_p.A134A|NAPA-AS1_ENST00000593284.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	173					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GCTCCAGCAGCGCAGCGTAAC	0.642000													32	60					2.68265e-12	3.53353e-12	1	1	0
ADAM12	8038	broad.mit.edu	37	10	127708298	127708298	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:127708298G>T	ENST00000368679.4	-	22	2944	c.2635C>A	c.(2635-2637)Caa>Aaa	p.Q879K		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	879					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.Q879*(2)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTCTCCCATTGTCCTGGGGTC	0.582000													27	33					1.77063e-15	2.55142e-15	1	1	0
OR6N2	81442	broad.mit.edu	37	1	158746841	158746841	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:158746841G>T	ENST00000339258.1	-	1	584	c.585C>A	c.(583-585)aaC>aaA	p.N195K		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CCACCAGAATGTTAGCAGATG	0.408000													11	106					1.58986e-06	1.81439e-06	1	1	0
OR8D4	338662	broad.mit.edu	37	11	123777894	123777894	+	Nonsense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:123777894T>A	ENST00000321355.2	+	1	786	c.756T>A	c.(754-756)taT>taA	p.Y252*		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	252					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)		TTATGTTTTATGGGTCTCTGA	0.453000													52	106					0	0	1	0	0
ODF3L2	284451	broad.mit.edu	37	19	463925	463925	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:463925G>T	ENST00000315489.4	-	4	1024	c.789C>A	c.(787-789)cgC>cgA	p.R263R	ODF3L2_ENST00000382696.3_Silent_p.R227R	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	263										large_intestine(1)|lung(2)	3						GTTTCGAGTGGCGGATGCCCA	0.716000													12	20					9.31168e-06	1.04473e-05	1	1	0
UGT1A8	54576	broad.mit.edu	37	2	234526615	234526615	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:234526615C>A	ENST00000373450.4	+	1	325	c.262C>A	c.(262-264)Cgg>Agg	p.R88R		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGATCTGGACCGGGAATTCAT	0.418000													74	140					7.1157e-29	1.21577e-28	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105410891	105410891	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:105410891C>G	ENST00000333244.5	-	7	11016	c.10897G>C	c.(10897-10899)Gcc>Ccc	p.A3633P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3633						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)			CTGTCTTTGGCAGTCACGTCC	0.602000													78	331					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583848	35583848	+	Silent	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:35583848A>T	ENST00000287272.2	+	9	1295	c.1275A>T	c.(1273-1275)ggA>ggT	p.G425G	UNC5D_ENST00000449677.1_Silent_p.G70G|UNC5D_ENST00000416672.1_Silent_p.G499G|UNC5D_ENST00000404895.2_Silent_p.G494G|UNC5D_ENST00000453357.2_Silent_p.G489G|UNC5D_ENST00000420357.1_Silent_p.G427G			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	494					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)		TTTCCCTGGGAGTGTCTGAGA	0.478000													30	22					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280126	18280126	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:18280126A>T	ENST00000377369.2	+	8	1589	c.1316A>T	c.(1315-1317)cAt>cTt	p.H439L	SLC39A12_ENST00000539911.1_Missense_Mutation_p.H305L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.H439L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.H439L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	439					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGGCATTTCCATGAAAGCAAA	0.358000													20	48					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65623006	65623006	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:65623006G>T	ENST00000327987.4	-	10	1886	c.1635C>A	c.(1633-1635)ccC>ccA	p.P545P		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	545	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCCAGCCGGGGCCAAGGCT	0.662000													6	26					0.00116845	0.00122584	1	1	0
LILRB1	10859	broad.mit.edu	37	19	55143161	55143161	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:55143161G>T	ENST00000396331.1	+	5	638	c.281G>T	c.(280-282)gGg>gTg	p.G94V	LILRB1_ENST00000396332.4_Missense_Mutation_p.G94V|LILRB1_ENST00000324602.7_Missense_Mutation_p.G94V|LILRB1_ENST00000448689.1_Missense_Mutation_p.G94V|LILRB1_ENST00000396317.1_Missense_Mutation_p.G94V|LILRB1_ENST00000396327.3_Missense_Mutation_p.G94V|LILRB1_ENST00000434867.2_Missense_Mutation_p.G94V|LILRB1_ENST00000396315.1_Missense_Mutation_p.G94V|LILRB1_ENST00000396321.2_Missense_Mutation_p.G94V|LILRB1_ENST00000427581.2_Missense_Mutation_p.G130V|LILRB1_ENST00000418536.2_Missense_Mutation_p.G94V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	94	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GAACATGCAGGGCGGTATCGC	0.562000										HNSCC(37;0.09)			53	89					1.08114e-33	1.91279e-33	1	1	0
OAS3	4940	broad.mit.edu	37	12	113379681	113379681	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:113379681A>T	ENST00000551007.1	+	2	571	c.484A>T	c.(484-486)Agg>Tgg	p.R162W	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000548514.1_Intron|OAS3_ENST00000228928.7_Intron|OAS3_ENST00000546638.1_Intron			Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	0	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGACCATTCCAGGGTTGGGGG	0.552000													51	68					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167868866	167868866	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:167868866C>A	ENST00000367848.1	-	6	658	c.160_splice	c.e6-1	p.G54_splice	ADCY10_ENST00000367851.4_Splice_Site_p.G146_splice|ADCY10_ENST00000545172.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	146	Guanylate cyclase 1.				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						AGCAGCCAGTCCTGGCAAGAA	0.488000													22	65					7.41877e-09	8.9633e-09	1	1	0
KRTAP9-3	83900	broad.mit.edu	37	17	39388857	39388857	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:39388857C>T	ENST00000411528.2	+	1	143	c.104C>T	c.(103-105)cCc>cTc	p.P35L		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	35	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGTCAGCCCTCCTGCTGT	0.617000													12	60					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37841704	37841704	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:37841704G>T	ENST00000381967.4	+	6	642	c.542G>T	c.(541-543)gGa>gTa	p.G181V	PGM2_ENST00000544359.1_Missense_Mutation_p.G42V|PGM2_ENST00000537241.1_Missense_Mutation_p.G21V	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	181					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TGGGATAATGGAGCTCAGATC	0.403000													53	75					2.14255e-21	3.38059e-21	1	1	0
TRIO	7204	broad.mit.edu	37	5	14280470	14280470	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:14280470C>T	ENST00000344204.4	+	3	296	c.272C>T	c.(271-273)cCg>cTg	p.P91L	TRIO_ENST00000537187.1_Missense_Mutation_p.P91L|TRIO_ENST00000509967.2_Missense_Mutation_p.P42L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	91	CRAL-TRIO.				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)					TTAACGTTTCCGGCCCGCAGC	0.433000													35	53					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38117315	38117315	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr21:38117315C>T	ENST00000290399.6	+	10	2067	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V	SIM2_ENST00000430056.3_Missense_Mutation_p.A485V	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	485	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						ACACTGCCAGCCAGCGGTGAA	0.582000													28	58					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821611	5821611	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chrX:5821611C>A	ENST00000381095.3	-	5	1735	c.1108G>T	c.(1108-1110)Ggc>Tgc	p.G370C	NLGN4X_ENST00000381093.2_Missense_Mutation_p.G390C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G370C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G370C|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G370C	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	370					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGTTGACGCCCAGCATGATG	0.587000													30	19					1.96642e-18	2.92517e-18	1	1	0
ZNF100	163227	broad.mit.edu	37	19	21910399	21910399	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:21910399C>A	ENST00000358296.6	-	5	913	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C	ZNF100_ENST00000305570.6_Missense_Mutation_p.G175C	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AAGGCTTTGCCACAATCTTTA	0.353000													20	56					1.15919e-05	1.29086e-05	1	1	0
ZPBP	11055	broad.mit.edu	37	7	50023055	50023055	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:50023055C>G	ENST00000046087.2	-	7	913	c.844G>C	c.(844-846)Gaa>Caa	p.E282Q	ZPBP_ENST00000491129.1_5'UTR|ZPBP_ENST00000419417.1_Missense_Mutation_p.E281Q	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	282					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGTAATTGTTCTGCACGTCTG	0.328000													8	35					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204650	9204650	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:9204650C>A	ENST00000429566.3	+	1	796	c.730C>A	c.(730-732)Cac>Aac	p.H244N		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTGCAGCTCCCACCTGTCTGT	0.567000													68	135					4.38816e-42	8.20038e-42	1	1	0
BDP1	55814	broad.mit.edu	37	5	70785408	70785408	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:70785408G>C	ENST00000358731.4	+	10	1654	c.1391G>C	c.(1390-1392)aGa>aCa	p.R464T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	464	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAAAAGAAAAGAAGGAGGAAG	0.423000													39	50					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2916087	2916087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:2916087C>T	ENST00000306908.5	+	3	290	c.142C>T	c.(142-144)Caa>Taa	p.Q48*	ZNF57_ENST00000523428.1_Nonsense_Mutation_p.Q16*|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATGGGACTCAATTTAAAGC	0.383000													38	63					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86258474	86258474	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:86258474G>A	ENST00000263857.6	-	30	4935	c.4557C>T	c.(4555-4557)acC>acT	p.T1519T	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1519					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						GGCTCTCCTCGGTGTCGTACT	0.662000													54	81					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56639370	56639370	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:56639370C>G	ENST00000267116.7	-	21	2316	c.2195G>C	c.(2194-2196)gGc>gCc	p.G732A		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	732							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTCCTCACAGCCAGTCACTGC	0.597000													18	35					0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4432789	4432789	+	Silent	SNP	A	A	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr16:4432789A>C	ENST00000304735.3	+	2	2066	c.1911A>C	c.(1909-1911)gcA>gcC	p.A637A	CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000537233.2_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	637						extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						GCCCGAAGGCAACAGAGGGCG	0.687000													8	5					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10327515	10327515	+	Silent	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:10327515T>C	ENST00000377086.1	+	6	709	c.507T>C	c.(505-507)cgT>cgC	p.R169R	KIF1B_ENST00000377093.4_Silent_p.R169R|KIF1B_ENST00000377083.1_Silent_p.R169R|KIF1B_ENST00000377081.1_Silent_p.R169R|KIF1B_ENST00000263934.6_Silent_p.R169R			O60333	KIF1B_HUMAN	kinesin family member 1B	169	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-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;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGCGTGTGCGTGAACACCCAC	0.433000													29	61					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443826	5443826	+	Silent	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:5443826C>G	ENST00000300778.4	+	1	486	c.396C>G	c.(394-396)ctC>ctG	p.L132L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGTCCCCTCCATTATGCCT	0.478000													91	187					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151520234	151520234	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:151520234G>A	ENST00000535741.1	-	38	6444	c.5971C>T	c.(5971-5973)Cgc>Tgc	p.R1991C	LRBA_ENST00000357115.3_Missense_Mutation_p.R1991C|LRBA_ENST00000507224.1_Missense_Mutation_p.R1991C|LRBA_ENST00000510413.1_Missense_Mutation_p.R1991C			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1991	Poly-Arg.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CGTCGCCGGCGCCGCAAGTCA	0.493000													50	54					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98770767	98770767	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:98770767G>A	ENST00000266058.4	-	31	3569	c.3324C>T	c.(3322-3324)ctC>ctT	p.L1108L	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.L1108L	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1108	EGF-like 5.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCTCAGCACAGAGGCAGGAGT	0.602000													19	20					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19753612	19753612	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr13:19753612G>C	ENST00000400113.3	-	2	199	c.95C>G	c.(94-96)cCc>cGc	p.P32R		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	32					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGACCATCGGGCTGAATTCC	0.552000													43	67					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323988	152323988	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:152323988G>T	ENST00000388718.5	-	3	6346	c.6274C>A	c.(6274-6276)Cag>Aag	p.Q2092K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2092							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)			GACCCTCTCTGTGTGGACTGT	0.527000													670	652					3.2671e-213	6.28207e-213	1	1	0
RAD54L2	23132	broad.mit.edu	37	3	51661703	51661703	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:51661703A>G	ENST00000409535.1	+	3	399	c.274A>G	c.(274-276)Aac>Gac	p.N92D		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	92						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCAAGGCAAGAACCTAGCCTC	0.557000													8	26					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433077	55433077	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:55433077G>T	ENST00000314259.3	+	1	464	c.435G>T	c.(433-435)ggG>ggT	p.G145G		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGGTAGGAGGGGCTTGGGTGG	0.478000													43	96					1.7489e-18	2.61461e-18	1	1	0
ALDH4A1	8659	broad.mit.edu	37	1	19209798	19209798	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:19209798T>C	ENST00000375341.3	-	6	835	c.578A>G	c.(577-579)aAc>aGc	p.N193S	ALDH4A1_ENST00000290597.5_Missense_Mutation_p.N193S|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.N133S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.N193S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	193					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CACCGTGCTGTTGGTGCTCGG	0.642000													12	37					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106843916	106843916	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chrX:106843916C>A	ENST00000276185.4	+	16	2746	c.2746C>A	c.(2746-2748)Cca>Aca	p.P916T				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	916						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGCACTGTCCCCACAGCTTAG	0.602000													5	7					1	1	1	1	0
PMM1	5372	broad.mit.edu	37	22	41980548	41980548	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr22:41980548G>A	ENST00000216259.7	-	3	349	c.265C>T	c.(265-267)Cga>Tga	p.R89*	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	89					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GAGAGCAGTCGTCCGTGCTTA	0.552000													19	38					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923186	24923186	+	Nonsense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:24923186C>G	ENST00000329468.2	+	1	2646	c.2172C>G	c.(2170-2172)taC>taG	p.Y724*		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCCATTTTACCTGGGGCTTC	0.542000													44	79					0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69326542	69326542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:69326542C>A	ENST00000551568.1	-	2	136	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	CPM_ENST00000546373.1_Nonsense_Mutation_p.E26*|CPM_ENST00000338356.3_Nonsense_Mutation_p.E26*	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	26					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCCATCCCTTCCTGGCGGTGG	0.478000													25	106					1.64293e-13	2.2329e-13	1	1	0
NRAP	4892	broad.mit.edu	37	10	115391691	115391691	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:115391691C>G	ENST00000369358.4	-	17	1909	c.1665G>C	c.(1663-1665)aaG>aaC	p.K555N	NRAP_ENST00000369360.3_Missense_Mutation_p.K520N|NRAP_ENST00000360478.3_Missense_Mutation_p.K520N|NRAP_ENST00000359988.3_Missense_Mutation_p.K555N			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	555						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			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)		ATCCTTTCCCCTTTGTCTTCT	0.453000													48	32					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129276	248129276	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:248129276C>T	ENST00000366480.3	+	1	742	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	215					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)			GTATACAGTCCTCCTGAGTGG	0.453000													23	134					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51172542	51172542	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:51172542C>A	ENST00000293441.1	-	22	2693	c.2674_splice	c.e22-1	p.G892_splice	SHANK1_ENST00000391813.1_Splice_Site_p.G279_splice|SHANK1_ENST00000391814.1_Splice_Site_p.G900_splice|SHANK1_ENST00000359082.3_Splice_Site_p.G883_splice	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	892					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TTCTGCCGCACCTGGGGAGAT	0.592000											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	8					0.27861	0.280487	1	1	0
CROCC	9696	broad.mit.edu	37	1	17295692	17295692	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:17295692A>G	ENST00000375541.5	+	32	5227	c.5158A>G	c.(5158-5160)Agc>Ggc	p.S1720G		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1720					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGTGGAGGAAAGCGAGGGGGC	0.677000													9	10					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140953137	140953137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr9:140953137C>A	ENST00000277549.5	+	30	4582	c.2013C>A	c.(2011-2013)taC>taA	p.Y671*	CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.Y1475*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.Y1475*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.Y1476*|CACNA1B_ENST00000371372.1_Nonsense_Mutation_p.Y1475*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.Y1476*			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1475					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCTTTGAATACTTCATCATGG	0.567000													5	6					0.000602214	0.000639652	1	1	0
DMKN	93099	broad.mit.edu	37	19	36004175	36004175	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:36004175C>A	ENST00000339686.3	-	1	379	c.203G>T	c.(202-204)aGt>aTt	p.S68I	DMKN_ENST00000451297.2_Missense_Mutation_p.S68I|DMKN_ENST00000447113.2_Missense_Mutation_p.S68I|DMKN_ENST00000418261.1_Missense_Mutation_p.S68I|DMKN_ENST00000419602.1_Missense_Mutation_p.S68I|DMKN_ENST00000440396.1_Missense_Mutation_p.S68I|DMKN_ENST00000429837.1_Missense_Mutation_p.S68I|DMKN_ENST00000424570.2_Missense_Mutation_p.S68I	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	68	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAGGGCCTCACTGACTTTAGA	0.617000													53	67					5.39261e-20	8.26867e-20	1	1	0
F13A1	2162	broad.mit.edu	37	6	6305759	6305759	+	Silent	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:6305759G>C	ENST00000264870.3	-	3	409	c.144C>G	c.(142-144)gtC>gtG	p.V48V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	48					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GAACGCTCGTGACATTAAGAA	0.383000													24	35					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737539	248737539	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:248737539A>C	ENST00000328782.2	-	1	541	c.520T>G	c.(520-522)Tgc>Ggc	p.C174G		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	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;0.0265)			CTAGACTGGCAAAAGGGGAAG	0.522000													52	218					0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46804335	46804335	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:46804335G>A	ENST00000290295.7	-	2	1256	c.672C>T	c.(670-672)agC>agT	p.S224S		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	224					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ACTGCCCCTTGCTGTACGGAA	0.632000													40	59					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148771595	148771595	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:148771595T>C	ENST00000451334.3	-	4	581	c.70A>G	c.(70-72)Att>Gtt	p.I24V	ZNF786_ENST00000491431.1_Missense_Mutation_p.I61V|ZNF786_ENST00000316286.9_5'UTR			Q8N393	ZN786_HUMAN	zinc finger protein 786	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCGTGTTCAATCCAGGATATT	0.408000													9	36					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117243240	117243240	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:117243240C>T	ENST00000332958.2	+	13	1379	c.1363C>T	c.(1363-1365)Ctc>Ttc	p.L455F		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	455					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACTGAAGGATCTCCTTAAGAA	0.348000													53	39					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952670	54952670	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:54952670G>T	ENST00000273286.5	-	3	1016	c.854C>A	c.(853-855)gCc>gAc	p.A285D	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.A209D|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	285						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGTGGCAATGGCATGACGCAG	0.582000													30	65					7.01153e-11	8.90212e-11	1	1	0
TOPORS	10210	broad.mit.edu	37	9	32544314	32544314	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr9:32544314G>A	ENST00000360538.2	-	3	325	c.209C>T	c.(208-210)tCa>tTa	p.S70L	TOPORS_ENST00000379858.1_Missense_Mutation_p.S5L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	70	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTTAGCAGCTGATGCCATTAT	0.358000													32	56					0	0	1	0	0
RNF14	9604	broad.mit.edu	37	5	141357914	141357914	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:141357914G>T	ENST00000394520.2	+	5	662	c.353G>T	c.(352-354)cGt>cTt	p.R118L	RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394519.1_Missense_Mutation_p.R118L|RNF14_ENST00000356143.1_Missense_Mutation_p.R118L|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000347642.3_Missense_Mutation_p.R118L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	118	RWD.				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)		GAAGAACACCGTGGCAGCGTG	0.453000													35	72					2.20474e-14	3.08766e-14	1	1	0
UBXN7	26043	broad.mit.edu	37	3	196089298	196089298	+	Silent	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:196089298C>G	ENST00000296328.4	-	9	1169	c.1095G>C	c.(1093-1095)ccG>ccC	p.P365P	UBXN7_ENST00000535858.1_Silent_p.P217P|UBXN7_ENST00000428095.1_Silent_p.P203P	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	365							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCTCAGTCAGCGGCCTTCTAT	0.483000													50	86					0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62891624	62891624	+	Splice_Site	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:62891624A>T	ENST00000308824.6	+	2	433	c.307_splice	c.e2+1	p.L102_splice	PCMTD2_ENST00000299468.7_Splice_Site_p.L102_splice|PCMTD2_ENST00000369758.3_Splice_Site_p.L102_splice	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	102						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCTCATTCTAGGTAAGTGTG	0.532000													33	68					0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	168944337	168944337	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:168944337G>T	ENST00000354536.5	+	5	716	c.496G>T	c.(496-498)Ggc>Tgc	p.G166C	SMOC2_ENST00000356284.2_Missense_Mutation_p.G166C	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	166					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCAACGCGAAGGCACAGGAAA	0.333000													5	9					1.23904e-05	1.37467e-05	1	1	0
TRBV9	28586	broad.mit.edu	37	7	142239628	142239628	+	RNA	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:142239628G>A	ENST00000390363.2	-	0	298																											ACTGTTGTGCGGAGAATCGTT	0.498000													41	80					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164467333	164467333	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:164467333T>A	ENST00000333129.3	-	3	1323	c.1009A>T	c.(1009-1011)Agc>Tgc	p.S337C	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	337						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGGCCATAGCTGTAATTTCCA	0.463000													40	83					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947736	145947736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:145947736C>A	ENST00000292562.7	-	5	1584	c.1309G>T	c.(1309-1311)Gag>Tag	p.E437*	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TTGCCGCACTCATTACAAACA	0.458000													56	67					8.99859e-20	1.36925e-19	1	1	0
RFX6	222546	broad.mit.edu	37	6	117243241	117243241	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:117243241T>A	ENST00000332958.2	+	13	1380	c.1364T>A	c.(1363-1365)cTc>cAc	p.L455H		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	455					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTGAAGGATCTCCTTAAGAAG	0.348000													52	39					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39613319	39613319	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:39613319C>T	ENST00000265708.4	-	16	1828	c.1725G>A	c.(1723-1725)gtG>gtA	p.V575V	ADAM2_ENST00000379853.2_Silent_p.V419V|ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000347580.4_Silent_p.V556V	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	575	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGGCAAATTCCACAGCAATGC	0.338000													31	71					0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107224903	107224903	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chrX:107224903T>A	ENST00000302917.1	-	2	547	c.455A>T	c.(454-456)cAt>cTt	p.H152L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	152										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TCTTACGGCATGGAAGAGCTT	0.597000													42	36					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231995	7231995	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:7231995G>T	ENST00000383467.2	+	1	873	c.859G>T	c.(859-861)Ggc>Tgc	p.G287C		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	287										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGTGGAGGGGGGCCTGGAGAT	0.587000													68	186					3.86735e-44	7.24976e-44	1	1	0
S100A7A	338324	broad.mit.edu	37	1	153390627	153390627	+	Silent	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:153390627T>A	ENST00000368729.4	+	2	126	c.69T>A	c.(67-69)cgT>cgA	p.R23R	S100A7A_ENST00000329256.2_Silent_p.R23R|S100A7A_ENST00000368728.2_Silent_p.R23R	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	23	EF-hand 1.		R -> H (in dbSNP:rs55985140).			cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACACCGGACGTGATGGCAAGA	0.453000													157	166					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48752480	48752480	+	Silent	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:48752480T>C	ENST00000316623.5	-	43	5714	c.5259A>G	c.(5257-5259)ccA>ccG	p.P1753P		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1753					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)		TGACAAAGCCTGGCCTTTGAC	0.418000													12	40					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27121537	27121537	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:27121537T>C	ENST00000288699.6	+	2	328	c.170T>C	c.(169-171)cTg>cCg	p.L57P	DPYSL5_ENST00000401478.1_Missense_Mutation_p.L57P	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	57					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGAAAACTGGTGATCCCT	0.577000													33	54					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39512397	39512397	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:39512397C>A	ENST00000287152.7	-	12	1454	c.1360G>T	c.(1360-1362)Gaa>Taa	p.E454*	KIF6_ENST00000373215.3_Nonsense_Mutation_p.E454*|KIF6_ENST00000373213.4_Nonsense_Mutation_p.E293*|KIF6_ENST00000373216.3_Nonsense_Mutation_p.E454*|KIF6_ENST00000538893.1_Nonsense_Mutation_p.E454*	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	454					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTAATGGTTCTTGACAATCT	0.338000													17	44					1.5739e-10	1.98563e-10	1	1	0
ZNF407	55628	broad.mit.edu	37	18	72347394	72347394	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:72347394G>T	ENST00000299687.5	+	1	4419	c.4419G>T	c.(4417-4419)caG>caT	p.Q1473H	ZNF407_ENST00000309902.6_Missense_Mutation_p.Q1473H|ZNF407_ENST00000582337.1_Missense_Mutation_p.Q1473H|ZNF407_ENST00000577538.1_Missense_Mutation_p.Q1473H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1473					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)		GAAATGAGCAGGCCAGTGTGG	0.463000													13	17					9.05144e-12	1.17669e-11	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146536856	146536856	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:146536856G>A	ENST00000361727.3	+	3	778	c.262G>A	c.(262-264)Gac>Aac	p.D88N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	88	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.D88N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCTTCAGGTTGACTTTGGCAA	0.483000										HNSCC(39;0.1)			14	73					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238928	48238928	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:48238928C>T	ENST00000309562.2	+	1	585	c.567C>T	c.(565-567)gaC>gaT	p.D189D		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGCACTGACACCTTCATGG	0.448000													22	154					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413827	61413827	+	Silent	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:61413827T>A	ENST00000395348.3	-	5	1593	c.957A>T	c.(955-957)ggA>ggT	p.G319G	SLC16A9_ENST00000395347.1_Silent_p.G319G	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	319					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GTGGAAACCCTCCGATGTCAA	0.348000													41	21					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361932	9361932	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:9361932C>T	ENST00000456448.1	+	1	327	c.213C>T	c.(211-213)tcC>tcT	p.S71S		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GCTCTGACTCCCACCTCCACA	0.572000													20	65					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17613307	17613307	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:17613307C>T	ENST00000381869.3	-	2	483	c.10G>A	c.(10-12)Gat>Aat	p.D4N	MTUS1_ENST00000381862.3_Missense_Mutation_p.D4N|MTUS1_ENST00000519263.1_Missense_Mutation_p.D4N|MTUS1_ENST00000262102.6_Missense_Mutation_p.D4N	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	4						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCTGAATTATCATCAGTCATC	0.358000													12	49					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554455	28554455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:28554455G>A	ENST00000452236.2	-	1	657	c.40C>T	c.(40-42)Cag>Tag	p.Q14*	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	14					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCTGGAGCCTGGCCAGCCAAG	0.493000													33	31					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132081914	132081914	+	Splice_Site	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:132081914A>T	ENST00000374786.1	+	3	879		c.e3-1		NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000425719.2_Splice_Site|NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000427481.2_Splice_Site|NTM_ENST00000474900.1_Splice_Site	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.?(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTGTTTCCACAGTATCTCCCA	0.383000													8	52					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237586456	237586456	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:237586456T>A	ENST00000366574.2	+	12	1230	c.913T>A	c.(913-915)Tac>Aac	p.Y305N	RYR2_ENST00000360064.6_Missense_Mutation_p.Y303N|RYR2_ENST00000542537.1_Missense_Mutation_p.Y289N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	305	MIR 4.				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)			AACAGGAAAATACTTGAGTCT	0.438000													116	130					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147259229	147259229	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:147259229G>T	ENST00000361727.3	+	12	2293		c.e12-1			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTTTGTTCTAGCTATCTACGA	0.448000										HNSCC(39;0.1)			23	65					1.28384e-07	1.50832e-07	1	1	0
APBB2	323	broad.mit.edu	37	4	40827944	40827944	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:40827944G>A	ENST00000295974.8	-	15	2402	c.1773C>T	c.(1771-1773)caC>caT	p.H591H	APBB2_ENST00000543538.1_Silent_p.H43H|APBB2_ENST00000513140.1_Silent_p.H569H|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000508593.1_Silent_p.H592H|APBB2_ENST00000506352.1_Silent_p.H570H|APBB2_ENST00000504305.1_Silent_p.H43H|APBB2_ENST00000502841.1_Silent_p.H43H	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	591	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGTACTGCACGTGGAACTTCT	0.458000													65	66					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33879712	33879712	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:33879712G>C	ENST00000307296.3	+	9	1451	c.1074G>C	c.(1072-1074)atG>atC	p.M358I	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.M363I			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	358	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTGAGAAGATGGTTCCCGTGT	0.373000													5	82					0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29634017	29634017	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:29634017C>G	ENST00000376894.4	+	3	643	c.525C>G	c.(523-525)ttC>ttG	p.F175L	MOG_ENST00000431798.2_Missense_Mutation_p.F175L|MOG_ENST00000483013.1_Missense_Mutation_p.F59L|MOG_ENST00000416766.2_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.F175L|MOG_ENST00000396701.2_Missense_Mutation_p.F175L|MOG_ENST00000396704.3_Missense_Mutation_p.F175L|MOG_ENST00000494692.1_Missense_Mutation_p.F175L|MOG_ENST00000490427.1_Missense_Mutation_p.F59L|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376891.4_Missense_Mutation_p.F175L|MOG_ENST00000376888.2_Missense_Mutation_p.F59L|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376917.3_Missense_Mutation_p.F175L			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	175					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						GCCTCATCTTCCTCTGCCTGC	0.547000													34	144					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176951843	176951843	+	Silent	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:176951843A>G	ENST00000329540.5	-	9	3346	c.517T>C	c.(517-519)Tta>Cta	p.L173L	FAM193B_ENST00000443375.2_Silent_p.L514L|FAM193B_ENST00000514747.1_Silent_p.L547L			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	223										kidney(1)|large_intestine(3)	4						GGAGCTTGTAACGTGTGGTTC	0.622000													3	14					0	0	1	0	0
ANGPTL3	27329	broad.mit.edu	37	1	63064423	63064423	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:63064423C>A	ENST00000371129.3	+	2	632	c.552C>A	c.(550-552)gaC>gaA	p.D184E	DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	184					acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity	p.D184E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						CCGTGGAAGACCAATATAAAC	0.348000													25	42					1.68575e-08	2.0202e-08	1	1	0
TCTEX1D1	200132	broad.mit.edu	37	1	67220360	67220360	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:67220360G>A	ENST00000282670.2	+	2	147	c.19G>A	c.(19-21)Gct>Act	p.A7T	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	7										large_intestine(2)|lung(10)|skin(1)	13						GTCAGACAATGCTAAAGGCAG	0.363000													20	11					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1559062	1559062	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:1559062A>T	ENST00000357210.4	+	3	620	c.404A>T	c.(403-405)tAc>tTc	p.Y135F	MIB2_ENST00000512004.1_Intron|MIB2_ENST00000378708.1_Missense_Mutation_p.Y77F|MIB2_ENST00000505820.2_Missense_Mutation_p.Y192F|MIB2_ENST00000504599.1_Missense_Mutation_p.Y91F|MIB2_ENST00000520777.1_Missense_Mutation_p.Y192F|MIB2_ENST00000518681.1_Missense_Mutation_p.Y192F|MIB2_ENST00000378712.1_Missense_Mutation_p.Y77F|MIB2_ENST00000360522.4_Missense_Mutation_p.Y135F|MIB2_ENST00000355826.5_Missense_Mutation_p.Y178F|MIB2_ENST00000378710.3_Missense_Mutation_p.Y135F	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	135	MIB/HERC2 1.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCTGCTGTACGACAACGCC	0.741000													2	2					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455183	70455183	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:70455183G>T	ENST00000503640.1	-	6	1546	c.1491C>A	c.(1489-1491)gtC>gtA	p.V497V	UGT2A1_ENST00000286604.4_Silent_p.V497V|UGT2A1_ENST00000514019.1_Silent_p.V663V|UGT2A2_ENST00000457664.2_Silent_p.V506V|UGT2A1_ENST00000512704.1_Silent_p.V453V	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	497					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGTCACACAGACCAGCAAGA	0.428000													27	89					1.12875e-08	1.35814e-08	1	1	0
TUB	7275	broad.mit.edu	37	11	8060507	8060507	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:8060507C>A	ENST00000305253.4	+	1	328	c.87C>A	c.(85-87)ccC>ccA	p.P29P	RP11-236J17.6_ENST00000528151.1_RNA|RP11-236J17.6_ENST00000526646.1_RNA|TUB_ENST00000534099.1_Intron	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CTCCCTGGCCCATGGGATCTC	0.557000													35	72					3.76114e-14	5.18239e-14	1	1	0
MUC16	94025	broad.mit.edu	37	19	9026276	9026276	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:9026276G>A	ENST00000397910.4	-	14	36913	c.36710C>T	c.(36709-36711)aCc>aTc	p.T12237I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12239	SEA 2.				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						GTTGGTGATGGTGAAGTTGAG	0.502000													65	152					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10981908	10981908	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:10981908C>A	ENST00000304623.8	-	21	3583	c.3394G>T	c.(3394-3396)Gct>Tct	p.A1132S	CTNND2_ENST00000511377.1_Missense_Mutation_p.A1041S|CTNND2_ENST00000458100.2_Missense_Mutation_p.A699S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A795S|CTNND2_ENST00000359640.2_Missense_Mutation_p.A1074S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1132					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						ATGTCTTCAGCGGGCGCACCA	0.338000													57	101					2.67592e-24	4.36022e-24	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31322891	31322891	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:31322891A>T	ENST00000269197.5	+	12	3079	c.3079A>T	c.(3079-3081)Agc>Tgc	p.S1027C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1027					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						TATAATCAAGAGCCAACCAGT	0.478000													17	27					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47351366	47351366	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:47351366C>G	ENST00000426342.1	-	11	2149	c.1403G>C	c.(1402-1404)gGa>gCa	p.G468A	MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.2_Missense_Mutation_p.G697A|MDGA2_ENST00000357362.3_Missense_Mutation_p.G468A|MDGA2_ENST00000399232.2_Missense_Mutation_p.G766A	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	697	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AATTAATTCTCCCTTTTGAAT	0.373000													14	43					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732507	152732507	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:152732507G>T	ENST00000368773.1	+	2	501	c.443G>T	c.(442-444)tGc>tTc	p.C148F	KPRP_ENST00000606109.1_Missense_Mutation_p.C148F	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	148	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATGTAGAATGCCCAGTCCAG	0.512000													179	185					3.15417e-93	6.0455e-93	1	1	0
PCDHB12	56124	broad.mit.edu	37	5	140590530	140590530	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:140590530A>T	ENST00000239450.2	+	1	2240	c.2051A>T	c.(2050-2052)gAc>gTc	p.D684V	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D347V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		684					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCAGGCCGACTCGCTCACT	0.706000													84	137					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38797450	38797450	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:38797450C>A	ENST00000449082.2	-	10	1290		c.e10-1			NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit						sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGCTAGCACCTGCGAAGAGA	0.488000													47	73					6.48837e-15	9.19441e-15	1	1	0
EHD2	30846	broad.mit.edu	37	19	48220014	48220014	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:48220014G>T	ENST00000263277.3	+	2	396	c.145G>T	c.(145-147)Gcc>Tcc	p.A49S	EHD2_ENST00000538399.1_Intron|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	49					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	p.A49T(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CCACTCGCCGGCCCTGGAGGA	0.662000													8	22					0.000274275	0.000295525	1	1	0
SHCBP1L	81626	broad.mit.edu	37	1	182922031	182922031	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:182922031C>A	ENST00000367547.3	-	1	474	c.238G>T	c.(238-240)Gac>Tac	p.D80Y	SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	152										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TCTCCCGTGTCCTCGGCCTGA	0.761000													5	14					0.000602214	0.000639652	1	1	0
PRR14L	253143	broad.mit.edu	37	22	32108337	32108337	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr22:32108337C>A	ENST00000327423.6	-	4	5677	c.5488G>T	c.(5488-5490)Gga>Tga	p.G1830*	PRR14L_ENST00000434485.1_Nonsense_Mutation_p.G1830*|PRR14L_ENST00000397493.2_Nonsense_Mutation_p.G1830*	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1830										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CGGTAACATCCTGGGGAACAA	0.522000													8	23					1.06961e-07	1.26409e-07	1	1	0
PTGER4	5734	broad.mit.edu	37	5	40692160	40692160	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:40692160C>A	ENST00000302472.3	+	3	2171	c.1147C>A	c.(1147-1149)Cgg>Agg	p.R383R		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	383					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTTCATCTCCCGGGAGCTGAA	0.587000													30	58					1.2476e-16	1.82859e-16	1	1	0
RYR2	6262	broad.mit.edu	37	1	237711866	237711866	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:237711866G>T	ENST00000366574.2	+	26	3359	c.3042G>T	c.(3040-3042)caG>caT	p.Q1014H	RYR2_ENST00000360064.6_Missense_Mutation_p.Q1012H|RYR2_ENST00000542537.1_Missense_Mutation_p.Q998H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1014	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)			GAATCCGGCAGGGCTGGACTT	0.453000													8	61					1.12685e-05	1.25955e-05	1	1	0
GPR45	11250	broad.mit.edu	37	2	105858853	105858853	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:105858853C>A	ENST00000258456.1	+	1	654	c.538C>A	c.(538-540)Cca>Aca	p.P180T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	180						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGCGCGGGCCCCACAGTGCGT	0.692000													12	25					7.03913e-09	8.55569e-09	1	1	0
SPO11	23626	broad.mit.edu	37	20	55910931	55910931	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:55910931T>A	ENST00000371263.3	+	8	821	c.712T>A	c.(712-714)Tgc>Agc	p.C238S	SPO11_ENST00000345868.4_Missense_Mutation_p.C200S|SPO11_ENST00000371260.4_Missense_Mutation_p.C196S	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	238					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TGACAACTTTTGCAACAAATT	0.328000								Editing and processing nucleases					24	53					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14105507	14105507	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:14105507G>A	ENST00000235372.7	+	8	2073	c.1217G>A	c.(1216-1218)cGg>cAg	p.R406Q	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R205Q|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R406Q|PRDM2_ENST00000343137.4_Missense_Mutation_p.R205Q|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	406						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ATTAACCGGCGGCGACATGAG	0.517000													14	75					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354680	42354680	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:42354680G>T	ENST00000269945.3	+	8	954	c.903G>T	c.(901-903)ctG>ctT	p.L301L	DMRTC2_ENST00000596827.1_Silent_p.L352L	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	301	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TCGTGGGGCTGAAAGATTCAT	0.642000													18	42					9.16793e-09	1.10533e-08	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22661318	22661318	+	RNA	SNP	T	T	C	rs1044437	by1000genomes	TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr22:22661318T>C	ENST00000426066.1	+	0	360					NR_027293.1																						TGTGTAGAACTTTGACCCCCG	0.488000													4	47					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43679524	43679524	+	Silent	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:43679524T>C	ENST00000404580.1	-	4	895	c.807A>G	c.(805-807)gcA>gcG	p.A269A	PSG5_ENST00000407356.1_Silent_p.A269A|PSG5_ENST00000342951.6_Silent_p.A269A|PSG5_ENST00000599812.1_Silent_p.A362A|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Silent_p.A269A			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	269	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AAAAATACTCTGCCGGTGGGT	0.458000													128	260					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5033026	5033026	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:5033026G>T	ENST00000159111.4	+	3	343	c.125G>T	c.(124-126)cGg>cTg	p.R42L	KDM4B_ENST00000536461.1_Missense_Mutation_p.R42L|KDM4B_ENST00000381759.4_Missense_Mutation_p.R42L	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	42	JmjN.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGAGCCCACCGGGCGGGCCTG	0.617000													62	127					8.72158e-25	1.42717e-24	1	1	0
CTNNA1	1495	broad.mit.edu	37	5	138266206	138266206	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:138266206G>A	ENST00000302763.7	+	15	2145	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	CTNNA1_ENST00000355078.5_Silent_p.A582A|CTNNA1_ENST00000518825.1_Silent_p.A685A|CTNNA1_ENST00000540387.1_Silent_p.A315A	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	685				A -> R (in Ref. 3; AAA86430/AAA18949).	adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CGAAGATTGCGGAACAGGTGG	0.483000													34	59					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888342	97888342	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:97888342G>C	ENST00000356526.2	+	1	799	c.799G>C	c.(799-801)Gca>Cca	p.A267P		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATCTCCGCAAGCAGATGGTCA	0.433000													24	74					0	0	1	0	0
CDKN2B	1030	broad.mit.edu	37	9	22006055	22006055	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr9:22006055G>A	ENST00000276925.6	-	2	757	c.348C>T	c.(346-348)ccC>ccT	p.P116P	CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	116					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CCAAGTCCACGGGCAGACGAC	0.721000													12	23					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													5	57					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531601	42531601	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:42531601C>A	ENST00000282030.5	+	4	2592	c.2296C>A	c.(2296-2298)Cag>Aag	p.Q766K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	766						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTCCAACTTTCAGTCACTTGT	0.552000									Schinzel-Giedion syndrome				13	64					2.61681e-11	3.35806e-11	1	1	0
TIAM2	26230	broad.mit.edu	37	6	155486469	155486469	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:155486469G>C	ENST00000461783.3	+	11	3560	c.2287G>C	c.(2287-2289)Gga>Cga	p.G763R	TIAM2_ENST00000360366.4_Missense_Mutation_p.G763R|TIAM2_ENST00000528391.2_Missense_Mutation_p.G75R|TIAM2_ENST00000318981.5_Missense_Mutation_p.G763R|TIAM2_ENST00000529824.2_Missense_Mutation_p.G763R|TIAM2_ENST00000367174.2_Missense_Mutation_p.G115R|TIAM2_ENST00000456144.1_Missense_Mutation_p.G763R|TIAM2_ENST00000456877.2_Missense_Mutation_p.G75R			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	763					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAACAAGAAGGGAATATTTTC	0.433000													26	26					0	0	1	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448495	142448495	+	RNA	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:142448495G>T	ENST00000422143.2	+	0	156																											ATCTGTCAACGTGGAACCTCC	0.512000													32	76					2.48696e-23	4.00863e-23	1	1	0
BTBD17	388419	broad.mit.edu	37	17	72353265	72353265	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:72353265G>A	ENST00000375366.3	-	3	1094	c.968C>T	c.(967-969)gCc>gTc	p.A323V		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	323						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						GACCCACGGGGCGCCCCAGGC	0.716000													8	8					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44590787	44590787	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:44590787C>G	ENST00000421176.3	+	5	1372	c.1156C>G	c.(1156-1158)Ctt>Gtt	p.L386V	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GTCCTCATGTCTTTCAAGACA	0.438000													48	88					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141294257	141294257	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:141294257G>T	ENST00000389484.3	-	46	8506	c.7535C>A	c.(7534-7536)gCt>gAt	p.A2512D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2512	LDL-receptor class A 11.				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)		CTCCGAATAAGCGTTGCAGGA	0.353000										TSP Lung(27;0.18)			23	69					2.89027e-11	3.69312e-11	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72938258	72938258	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:72938258G>T	ENST00000262209.4	-	25	3195	c.2988C>A	c.(2986-2988)cgC>cgA	p.R996R	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_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	996						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)	GATCCACTTTGCGTAGAAACC	0.378000													37	34					8.16904e-11	1.03498e-10	1	1	0
DNAAF3	352909	broad.mit.edu	37	19	55672063	55672063	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:55672063C>A	ENST00000527223.2	-	9	1198	c.1197G>T	c.(1195-1197)ggG>ggT	p.G399G	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Silent_p.G277G|DNAAF3_ENST00000524407.2_Silent_p.G331G|DNAAF3_ENST00000391720.4_Silent_p.G378G	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	331																	CCAGGTCCCCCCCGGTGGCTC	0.677000											OREG0025678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	86					8.01111e-26	1.33444e-25	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57768035	57768035	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:57768035C>A	ENST00000371030.2	+	1	1961	c.1961C>A	c.(1960-1962)gCa>gAa	p.A654E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	654						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)					GGCAGTGGGGCAGAACTGGGC	0.577000													25	50					1.55469e-16	2.27312e-16	1	1	0
AREL1	9870	broad.mit.edu	37	14	75142850	75142850	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:75142850G>A	ENST00000356357.4	-	7	1341	c.826C>T	c.(826-828)Cta>Tta	p.L276L	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		TTACCACTTAGGACAATAATG	0.393000													26	58					0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149001340	149001340	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:149001340G>T	ENST00000333677.6	+	9	1213	c.1050G>T	c.(1048-1050)ctG>ctT	p.L350L		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	350	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TGTGCAGCCTGGCCAAAGCCC	0.607000													38	83					2.37825e-27	4.02887e-27	1	1	0
NDST4	64579	broad.mit.edu	37	4	115997578	115997578	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:115997578G>T	ENST00000264363.2	-	2	1293	c.615C>A	c.(613-615)acC>acA	p.T205T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	205	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)		TGGGGGCTTTGGTAATATGCA	0.398000													18	94					3.51602e-12	4.61092e-12	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153904858	153904858	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:153904858C>T	ENST00000361217.4	-	24	4236	c.3818G>A	c.(3817-3819)cGt>cAt	p.R1273H	DENND4B_ENST00000474386.1_Intron	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1273										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCTCCTTACGCAGCACCAG	0.612000													4	40					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87968555	87968555	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:87968555A>T	ENST00000307808.6	+	3	1267	c.847A>T	c.(847-849)Agt>Tgt	p.S283C	AFF1_ENST00000395146.4_Missense_Mutation_p.S290C|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	283						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)		CCCCTCAAAAAGTGTTGCAAT	0.557000													90	109					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113303893	113303893	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:113303893G>T	ENST00000297405.5	-	56	9064	c.8820C>A	c.(8818-8820)gcC>gcA	p.A2940A	CSMD3_ENST00000352409.3_Silent_p.A2870A|CSMD3_ENST00000343508.3_Silent_p.A2900A|CSMD3_ENST00000455883.2_Silent_p.A2771A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2940	Sushi 20.					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						TTTTAGAATTGGCTGGAATTC	0.299000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	101					8.88839e-20	1.35593e-19	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2817109	2817109	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr16:2817109C>T	ENST00000301740.8	+	11	7129	c.6580C>T	c.(6580-6582)Cgg>Tgg	p.R2194W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2194	Ala-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						TGGCACCGCTCGGCCTCCTCC	0.577000													24	92					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109347872	109347872	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:109347872A>G	ENST00000283195.6	+	4	473	c.347A>G	c.(346-348)tAc>tGc	p.Y116C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	116					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						AGAGCAAAATACTGGCTTGAA	0.343000													84	147					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543874	23543874	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:23543874C>A	ENST00000300619.7	-	4	2112	c.1907G>T	c.(1906-1908)gGc>gTc	p.G636V	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.G604V	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	636						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AAAAGCTTTGCCACATTCTTC	0.393000													38	74					2.5098e-30	4.33775e-30	1	1	0
FLT3	2322	broad.mit.edu	37	13	28636181	28636181	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr13:28636181C>A	ENST00000380982.4	-	3	272	c.191G>T	c.(190-192)gGg>gTg	p.G64V	FLT3_ENST00000537084.1_Missense_Mutation_p.G64V|FLT3_ENST00000241453.7_Missense_Mutation_p.G64V			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	64					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAACGCACACCCGAGGTCTTC	0.517000			"""Mis, O"""		"""AML, ALL"""								37	66					3.61848e-18	5.36935e-18	1	1	0
IGHV1-24	28467	broad.mit.edu	37	14	106733361	106733361	+	RNA	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:106733361C>A	ENST00000390610.2	-	0	193																											GAGGGTGTATCCGGAAACCTT	0.562000													83	271					1.45978e-39	2.66957e-39	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17228583	17228583	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr16:17228583G>T	ENST00000261381.6	-	9	1858	c.1774C>A	c.(1774-1776)Cgg>Agg	p.R592R	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	592					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						AAGGTAGGCCGGGCTGTCTGC	0.522000													104	100					4.49162e-49	8.44651e-49	1	1	0
ISLR	3671	broad.mit.edu	37	15	74467872	74467872	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr15:74467872C>T	ENST00000249842.3	+	2	1030	c.673C>T	c.(673-675)Ccg>Tcg	p.P225S	ISLR_ENST00000395118.1_Missense_Mutation_p.P225S|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	225	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GAGCCGCCTGCCGCCACTGCC	0.657000													6	38					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92461848	92461848	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:92461848C>A	ENST00000267622.4	-	14	5277	c.4904G>T	c.(4903-4905)aGt>aTt	p.S1635I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1635					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TACCTGCACACTGGCTTGATG	0.393000			T	PDGFRB	AML								20	47					4.35082e-09	5.29896e-09	1	1	0
ATF7IP	55729	broad.mit.edu	37	12	14577231	14577231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:14577231G>T	ENST00000544627.1	+	2	726	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.E128*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.E128*|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.E128*|ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.E128*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	128					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	p.E128*(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACTGCCTGCTGAACCAGTTTC	0.483000													47	33					2.51966e-14	3.52046e-14	1	1	0
RYR1	6261	broad.mit.edu	37	19	38956781	38956781	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:38956781T>C	ENST00000355481.4	+	24	3052	c.2921T>C	c.(2920-2922)gTg>gCg	p.V974A	RYR1_ENST00000359596.3_Missense_Mutation_p.V974A|RYR1_ENST00000360985.3_Missense_Mutation_p.V974A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	974	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)	CTGAGCCACGTGCGGCTGACG	0.652000													6	16					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476617	120476617	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr9:120476617G>T	ENST00000355622.6	+	3	2312	c.2211G>T	c.(2209-2211)gtG>gtT	p.V737V	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.V697V	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	737	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTGTTGTGGTGTCCCAGCACT	0.483000													10	68					1.76689e-08	2.1132e-08	1	1	0
MEF2D	4209	broad.mit.edu	37	1	156437901	156437901	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:156437901T>A	ENST00000348159.4	-	11	1918	c.1438A>T	c.(1438-1440)Acg>Tcg	p.T480S	MEF2D_ENST00000340875.5_Missense_Mutation_p.T479S|MEF2D_ENST00000353795.3_Missense_Mutation_p.T434S|MEF2D_ENST00000360595.3_Missense_Mutation_p.T473S|MEF2D_ENST00000368240.2_Missense_Mutation_p.T473S|MEF2D_ENST00000464356.1_5'UTR	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	480					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGGTCTCCCGTCTCATAGGAT	0.701000													34	102					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729318	51729318	+	Silent	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:51729318C>G	ENST00000436584.2	+	2	352	c.297C>G	c.(295-297)acC>acG	p.T99T	CD33_ENST00000421133.2_Silent_p.T99T|CD33_ENST00000262262.4_Silent_p.T226T|CD33_ENST00000391796.3_Silent_p.T226T			P20138	CD33_HUMAN	CD33 molecule	226	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CGGAGAGAACCATCCAGCTCA	0.602000													18	37					0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56846632	56846632	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:56846632T>A	ENST00000370748.3	+	2	459	c.24T>A	c.(22-24)gaT>gaA	p.D8E	BEND6_ENST00000370746.3_Missense_Mutation_p.D8E|BEND6_ENST00000370745.1_Missense_Mutation_p.D8E|BEND6_ENST00000370750.2_Missense_Mutation_p.D8E			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	8										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TGCAGACAGATGAAATTACCA	0.378000													31	102					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123988583	123988583	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:123988583G>T	ENST00000456829.2	+	4	497		c.e4+1		VWA5A_ENST00000392748.1_Splice_Site|VWA5A_ENST00000361352.5_Splice_Site|VWA5A_ENST00000392744.4_Splice_Site|VWA5A_ENST00000360334.4_Splice_Site|VWA5A_ENST00000449321.1_Splice_Site	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A											autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CAAGATGAAGGTAGTAGAGAT	0.393000													32	49					2.61193e-14	3.62398e-14	1	1	0
OR2G3	81469	broad.mit.edu	37	1	247769538	247769538	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:247769538C>A	ENST00000320002.2	+	1	683	c.651C>A	c.(649-651)tcC>tcA	p.S217S	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			TCTCCATCTCCTATGGCTTCA	0.453000													38	132					2.05212e-20	3.17097e-20	1	1	0
ACTBL2	345651	broad.mit.edu	37	5	56778011	56778011	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:56778011G>T	ENST00000423391.1	-	1	625	c.524C>A	c.(523-525)gCc>gAc	p.A175D	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	175						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GCGTAGAATGGCATGAGGCAG	0.552000													36	66					6.05902e-23	9.71392e-23	1	1	0
USP47	55031	broad.mit.edu	37	11	11954630	11954630	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:11954630G>C	ENST00000339865.5	+	14	2290	c.1527G>C	c.(1525-1527)aaG>aaC	p.K509N	USP47_ENST00000527733.1_Missense_Mutation_p.K577N|USP47_ENST00000399455.2_Missense_Mutation_p.K597N|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	597					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AACAAGAAAAGAGACAACGAG	0.328000													17	31					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44469456	44469456	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:44469456A>T	ENST00000251269.5	+	5	608	c.280A>T	c.(280-282)Agc>Tgc	p.S94C	ZNF221_ENST00000587682.1_Missense_Mutation_p.S94C|ZNF221_ENST00000592350.1_Missense_Mutation_p.S94C	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	94	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GAAGACAACAAGCCAAAGAGA	0.413000													33	57					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79364418	79364418	+	RNA	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:79364418C>T	ENST00000444841.1	-	0	216																											GCACTGGTGCCTTCTGGGCAG	0.537000													9	22					0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97062180	97062180	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr9:97062180G>T	ENST00000395395.2	+	5	430	c.340G>T	c.(340-342)Ggc>Tgc	p.G114C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	114						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				TGCGCTAAGTGGCCATCCCAC	0.498000													21	69					6.21321e-17	9.15148e-17	1	1	0
TMEM74B	55321	broad.mit.edu	37	20	1161657	1161657	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:1161657G>T	ENST00000381894.3	-	2	1277	c.606C>A	c.(604-606)ggC>ggA	p.G202G		NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	202						integral to membrane	protein binding										GGTACAGCTCGCCCTTGCACA	0.647000													24	39					1.66031e-10	2.08585e-10	1	1	0
FMNL3	91010	broad.mit.edu	37	12	50045884	50045884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:50045884C>A	ENST00000335154.5	-	14	1668	c.1435G>T	c.(1435-1437)Gag>Tag	p.E479*	FMNL3_ENST00000352151.5_Nonsense_Mutation_p.E428*|FMNL3_ENST00000293590.5_Nonsense_Mutation_p.E479*|FMNL3_ENST00000550488.1_Nonsense_Mutation_p.E479*	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	479					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCCACAGACTCCAGGCCCCGG	0.622000													13	17					4.36969e-10	5.39892e-10	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107790357	107790357	+	Nonstop_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:107790357A>T	ENST00000379028.3	-	33	4383	c.3913T>A	c.(3913-3915)Taa>Aaa	p.*1305K	NRCAM_ENST00000413765.2_Nonstop_Mutation_p.*1181K|NRCAM_ENST00000425651.2_Nonstop_Mutation_p.*1305K|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000351718.4_Nonstop_Mutation_p.*1184K|NRCAM_ENST00000379024.4_Nonstop_Mutation_p.*1193K			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	0					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTTAAAAATTAAACAAAGGAA	0.398000													84	114					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221303	63221303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:63221303G>T	ENST00000449996.3	+	18	1654	c.1582G>T	c.(1582-1584)Gag>Tag	p.E528*	RGS9_ENST00000443584.3_Nonsense_Mutation_p.E528*|RGS9_ENST00000262406.9_Nonsense_Mutation_p.E531*	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	531				RVALE -> LVVLD (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AGTGGCCTTGGAGAGCTCATC	0.677000													105	109					9.07443e-57	1.72819e-56	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176564197	176564197	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:176564197C>A	ENST00000367662.3	+	3	2621	c.1457C>A	c.(1456-1458)cCa>cAa	p.P486Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P486Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	486	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P486Q(2)|p.P486H(2)		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						GGCTTTGAGCCAGAGCCTGAG	0.527000													29	126					2.36697e-06	2.68078e-06	1	1	0
MUC16	94025	broad.mit.edu	37	19	9075111	9075111	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:9075111G>T	ENST00000397910.4	-	3	12538	c.12335C>A	c.(12334-12336)aCa>aAa	p.T4112K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4114	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						TGTGGCTGATGTATCCAAAGT	0.483000													34	66					8.4185e-14	1.15465e-13	1	1	0
BEST4	266675	broad.mit.edu	37	1	45251771	45251771	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:45251771T>A	ENST00000372207.3	-	4	610	c.611A>T	c.(610-612)gAt>gTt	p.D204V		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	204						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GAGAGCGATATCGTCACGTAT	0.507000											OREG0013447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	110					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038174	62038174	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:62038174C>A	ENST00000354587.3	-	17	2642	c.2466G>T	c.(2464-2466)ctG>ctT	p.L822L	KCNQ2_ENST00000359125.2_Silent_p.L814L|KCNQ2_ENST00000357249.2_Silent_p.L796L|KCNQ2_ENST00000370224.1_Silent_p.L822L|KCNQ2_ENST00000344462.3_Silent_p.L810L|KCNQ2_ENST00000370226.1_Silent_p.L784L|KCNQ2_ENST00000430658.1_Silent_p.L783L|KCNQ2_ENST00000359689.1_Silent_p.L814L|KCNQ2_ENST00000360480.3_Silent_p.L786L			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	814					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)	TGAGAGCATCCAGGTTCTCCT	0.622000													7	17					0.000157383	0.000170499	1	1	0
KCNJ12	3768	broad.mit.edu	37	17	21318754	21318754	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:21318754G>T	ENST00000583088.1	+	3	995	c.100G>T	c.(100-102)Ggc>Tgc	p.G34C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G34C	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CTTCGGCAACGGCAAGGTGCA	0.632000										Prostate(3;0.18)			4	43					0.150653	0.152438	1	1	0
AXIN2	8313	broad.mit.edu	37	17	63545705	63545705	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:63545705C>T	ENST00000307078.5	-	3	1202	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.A297T	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	297					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTGTCGTTGGCGCTGGTGGCT	0.517000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				4	17					0	0	1	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39279840	39279840	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:39279840T>C	ENST00000394014.1	-	1	579	c.535A>G	c.(535-537)Act>Gct	p.T179A		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	179						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CGATAGCAAGTGGTGTGGCAG	0.607000													8	8					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6896449	6896449	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:6896449C>A	ENST00000312053.4	+	3	172	c.135C>A	c.(133-135)gcC>gcA	p.A45A	EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381407.5_Silent_p.A45A|EMR1_ENST00000381404.4_Silent_p.A45A|EMR1_ENST00000250572.8_Silent_p.A45A|EMR1_ENST00000450315.3_Silent_p.A45A	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	45	EGF-like 1.				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)					CAGCTTATGCCACCTGCACCA	0.458000													65	130					1.77791e-30	3.08172e-30	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106526602	106526602	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:106526602C>A	ENST00000359195.3	+	10	3205	c.2895C>A	c.(2893-2895)ttC>ttA	p.F965L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.F965L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.F965L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	965	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.F965F(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATATTGACTTCGGGCACATTC	0.388000													16	48					2.31682e-05	2.56567e-05	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40681166	40681166	+	Silent	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:40681166A>G	ENST00000298910.7	+	20	2572	c.2514A>G	c.(2512-2514)acA>acG	p.T838T	LRRK2_ENST00000343742.2_Silent_p.T838T	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	838					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAGCATCTACACTAGCAAGAA	0.363000													16	43					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42797515	42797515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:42797515G>T	ENST00000314073.5	+	6	1620	c.1444G>T	c.(1444-1446)Gga>Tga	p.G482*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.G482*					GLTSCR1-like																		TGCTGCCTCTGGAAGTCCAGT	0.517000													70	87					3.37205e-40	6.20457e-40	1	1	0
COPA	1314	broad.mit.edu	37	1	160293231	160293231	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:160293231C>A	ENST00000241704.7	-	8	925	c.696G>T	c.(694-696)tgG>tgT	p.W232C	COPA_ENST00000368069.3_Missense_Mutation_p.W232C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	232					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATTCATGCGCCAGATCTTCA	0.488000													32	48					3.90053e-15	5.54042e-15	1	1	0
PLXNC1	10154	broad.mit.edu	37	12	94692549	94692549	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:94692549G>C	ENST00000258526.4	+	27	4465	c.4216G>C	c.(4216-4218)Gta>Cta	p.V1406L	PLXNC1_ENST00000545312.1_Missense_Mutation_p.V145L|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V453L	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1406					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCCTGACGTCGTACATATTTG	0.363000													20	57					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48445962	48445962	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:48445962C>G	ENST00000358536.4	-	38	6608	c.6339G>C	c.(6337-6339)caG>caC	p.Q2113H	PLXNB1_ENST00000448774.2_Missense_Mutation_p.Q724H|PLXNB1_ENST00000456774.1_Missense_Mutation_p.Q1930H|PLXNB1_ENST00000296440.6_Missense_Mutation_p.Q2113H|PLXNB1_ENST00000358459.4_Missense_Mutation_p.Q1930H	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2113					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGCATCTTCTGGGCCGTGC	0.537000													8	23					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5067933	5067933	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:5067933C>A	ENST00000380370.1	+	1	178	c.178C>A	c.(178-180)Ccc>Acc	p.P60T		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCCGGGAGCCCATGTTCTA	0.507000													37	57					1.07637e-12	1.43676e-12	1	1	0
MAST2	23139	broad.mit.edu	37	1	46468496	46468496	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:46468496T>G	ENST00000361297.2	+	7	971	c.688T>G	c.(688-690)Tct>Gct	p.S230A	MAST2_ENST00000372009.2_Missense_Mutation_p.S230A|MAST2_ENST00000372008.1_Missense_Mutation_p.S115A	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	230					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)					GCGGCGCTGGTCTTTGGCCTC	0.493000													40	87					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420087	216420087	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:216420087C>T	ENST00000366943.2	-	13	3035	c.2649G>A	c.(2647-2649)gaG>gaA	p.E883E	USH2A_ENST00000307340.3_Silent_p.E883E|USH2A_ENST00000366942.3_Silent_p.E883E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	883	Laminin EGF-like 7.				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)		ACCTGTGAGGCTCACACTGAT	0.438000										HNSCC(13;0.011)			145	332					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091247	74091247	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:74091247C>A	ENST00000443185.2	-	4	3140	c.2823G>T	c.(2821-2823)gcG>gcT	p.A941A	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCGAGGGCTGCGCGCCAGCCC	0.697000													15	44					6.31663e-08	7.49473e-08	1	1	0
CYP26C1	340665	broad.mit.edu	37	10	94828426	94828426	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:94828426C>T	ENST00000285949.5	+	6	1541	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	514					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CTCACGCCTTCGGTTGCGGGG	0.677000													4	6					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762682	140762682	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:140762682G>T	ENST00000518325.1	+	1	216	c.216G>T	c.(214-216)acG>acT	p.T72T	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTAGGACGCAGCTTTTCG	0.637000													40	82					6.2361e-21	9.71143e-21	1	1	0
PGK2	5232	broad.mit.edu	37	6	49753951	49753951	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:49753951C>T	ENST00000304801.3	-	1	1102	c.950G>A	c.(949-951)gGt>gAt	p.G317D		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	317					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCTCTCAGGACCACAGTCCAA	0.473000													38	156					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42296979	42296979	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:42296979C>A	ENST00000342228.3	-	7	1292	c.923G>T	c.(922-924)cGg>cTg	p.R308L	SLC20A2_ENST00000520262.1_Missense_Mutation_p.R308L|SLC20A2_ENST00000520179.1_Missense_Mutation_p.R308L	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	308					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTATGCAGCCCGAGGGTGGCT	0.632000													24	56					0.00047179	0.000506518	1	1	0
H1FOO	132243	broad.mit.edu	37	3	129270016	129270016	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:129270016G>A	ENST00000324382.2	+	5	879	c.874G>A	c.(874-876)Ggg>Agg	p.G292R	H1FOO_ENST00000503977.1_Missense_Mutation_p.G153R	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	292					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CCCTAAAGCTGGGCAGGGGCC	0.582000													20	61					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548075	50548075	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:50548075G>T	ENST00000595661.1	+	6	870	c.375G>T	c.(373-375)ttG>ttT	p.L125F	ZNF473_ENST00000445728.3_Missense_Mutation_p.L113F|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Missense_Mutation_p.L125F|ZNF473_ENST00000391821.2_Missense_Mutation_p.L125F|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	125					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TAGATAGTTTGCTAGGCGATC	0.463000													35	65					8.73648e-17	1.28364e-16	1	1	0
ZNF518B	85460	broad.mit.edu	37	4	10445154	10445154	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:10445154C>A	ENST00000326756.3	-	3	3237	c.2799G>T	c.(2797-2799)ttG>ttT	p.L933F		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	933					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						GACACTTAATCAACTGATCTG	0.433000													35	101					1.836e-18	2.73798e-18	1	1	0
ERV3-1	2086	broad.mit.edu	37	7	64453191	64453191	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:64453191C>G	ENST00000394323.2	-	2	714	c.214G>C	c.(214-216)Gac>Cac	p.D72H		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		72						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						cttcctgggtcacagactgag	0.468000													27	47					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886981	119886981	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:119886981C>A	ENST00000464295.1	-	10	1788	c.1343G>T	c.(1342-1344)gGg>gTg	p.G448V	GPR156_ENST00000315843.3_Missense_Mutation_p.G448V|GPR156_ENST00000461057.1_Missense_Mutation_p.G444V			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	448						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGAGGAGGGCCCTGAAGTGCA	0.567000													19	28					7.07596e-05	7.74986e-05	1	1	0
ZNF436	80818	broad.mit.edu	37	1	23688985	23688985	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:23688985T>C	ENST00000314011.4	-	4	1026	c.890A>G	c.(889-891)tAt>tGt	p.Y297C	ZNF436_ENST00000374608.3_Missense_Mutation_p.Y297C|ZNF436_ENST00000374609.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GTGGACTCGATAGTGTTTGAT	0.527000													49	98					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44970627	44970627	+	Splice_Site	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chrX:44970627G>C	ENST00000377967.4	+	29	4218	c.4176_splice	c.e29-1	p.A1393_splice	KDM6A_ENST00000536777.1_Splice_Site_p.A1348_splice|KDM6A_ENST00000543216.1_Splice_Site_p.A1314_splice|KDM6A_ENST00000382899.4_Splice_Site_p.A1400_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1393					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						TTATTTTCAGGCTCCTCCATT	0.373000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								45	33					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6648429	6648429	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:6648429G>A	ENST00000299441.3	-	14	6252	c.5841C>T	c.(5839-5841)acC>acT	p.T1947T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1947	Cadherin 18.				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)		GCACCGTGATGGTGACAGACA	0.612000													24	49					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169528503	169528503	+	Silent	SNP	C	C	A	rs149072504		TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:169528503C>A	ENST00000367796.3	-	5	819	c.618G>T	c.(616-618)acG>acT	p.T206T	F5_ENST00000367797.3_Silent_p.T206T|F5_ENST00000546081.1_Silent_p.T69T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	206	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCTTGTCAAACGTCTTCTGTG	0.443000													13	164					9.31168e-06	1.04473e-05	1	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458742	45458742	+	RNA	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:45458742G>T	ENST00000548424.1	+	0	448																											GCTGCTGGATGGTTGGCCTCT	0.428000													12	36					2.27111e-07	2.64226e-07	1	1	0
KCNJ9	3765	broad.mit.edu	37	1	160054370	160054370	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:160054370G>A	ENST00000368088.3	+	2	792	c.550G>A	c.(550-552)Ggg>Agg	p.G184R		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	184					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGCGCGACGGGCGCCTCTG	0.662000													9	36					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56504401	56504401	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr6:56504401G>A	ENST00000370754.5	-	20	2606	c.2607C>T	c.(2605-2607)tcC>tcT	p.S869S	DST_ENST00000244364.6_Silent_p.S365S|DST_ENST00000446842.2_Silent_p.S365S|DST_ENST00000361203.3_Silent_p.S691S|DST_ENST00000421834.2_Silent_p.S691S|DST_ENST00000370769.4_Silent_p.S691S|DST_ENST00000370788.2_Silent_p.S691S|DST_ENST00000370765.6_Silent_p.S365S|DST_ENST00000312431.6_Silent_p.S691S|DST_ENST00000518935.1_Silent_p.S365S			Q03001	DYST_HUMAN	dystonin	691					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)			CTTGATTCCTGGATGTATTCT	0.328000													57	90					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148899834	148899834	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:148899834C>T	ENST00000264613.6	-	14	2774	c.2512G>A	c.(2512-2514)Ggg>Agg	p.G838R		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	838	F5/8 type A 3.|Plastocyanin-like 5.				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)	GTTTGTACCCCATGGGCATGT	0.473000													36	104					0	0	1	0	0
HAAO	23498	broad.mit.edu	37	2	43019654	43019654	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:43019654C>A	ENST00000294973.6	-	1	78	c.23G>T	c.(22-24)aGg>aTg	p.R8M		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	8	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CACCCAGGCCCTCACTCCCAG	0.706000													22	40					5.26018e-13	7.08465e-13	1	1	0
CHGA	1113	broad.mit.edu	37	14	93398735	93398735	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:93398735G>A	ENST00000216492.5	+	7	1109	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	CHGA_ENST00000334654.4_Missense_Mutation_p.V126M	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	277					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GGCTCTGGCTGTGGATGGAGC	0.642000													3	4					0	0	1	0	0
PGRMC2	10424	broad.mit.edu	37	4	129208545	129208545	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:129208545C>A	ENST00000520121.1	-	1	1439	c.473G>T	c.(472-474)aGc>aTc	p.S158I	PGRMC2_ENST00000512483.1_Intron|PGRMC2_ENST00000296425.5_Missense_Mutation_p.S134I	NM_006320.4	NP_006311.2			progesterone receptor membrane component 2																		GTAGAACTTGCTGCCTTTGGT	0.652000													7	17					0.00307968	0.00319731	1	1	0
SLC12A2	6558	broad.mit.edu	37	5	127466899	127466899	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:127466899G>T	ENST00000262461.2	+	5	1377		c.e5+1		SLC12A2_ENST00000343225.4_Splice_Site	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2						potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTGCTTAAGGTAATTCACCT	0.428000													52	78					1.35964e-18	2.04802e-18	1	1	0
C11orf65	160140	broad.mit.edu	37	11	108277822	108277822	+	Splice_Site	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:108277822C>T	ENST00000393084.1	-	4	298		c.e4+1		C11orf65_ENST00000529391.1_Splice_Site|C11orf65_ENST00000525729.1_Intron	NM_152587.3	NP_689800.3	Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65											endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TCCATACTTACTCCACCTAAT	0.289000													22	43					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95418721	95418721	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:95418721C>A	ENST00000371447.3	+	17	2238	c.2100C>A	c.(2098-2100)gcC>gcA	p.A700A		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	700					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AAGAAGAAGCCATCAAATATG	0.323000													23	21					0.000147802	0.000160701	1	1	0
LZTR1	8216	broad.mit.edu	37	22	21336744	21336744	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr22:21336744G>T	ENST00000215739.8	+	1	443	c.84G>T	c.(82-84)gtG>gtT	p.V28V	LZTR1_ENST00000389355.3_Silent_p.V28V|LZTR1_ENST00000479606.1_Intron	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	28					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCCCGAGCGTGGACTTCGACC	0.711000													3	13					1	1	1	1	0
GRIK3	2899	broad.mit.edu	37	1	37270565	37270565	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:37270565A>T	ENST00000373093.4	-	15	2608	c.2588T>A	c.(2587-2589)cTg>cAg	p.L863Q	GRIK3_ENST00000373091.3_Intron			Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	0					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)	CATCCTGTGCAGGCTCCAAGC	0.567000													18	43					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26222421	26222421	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr22:26222421G>A	ENST00000335473.7	+	14	2991	c.2741G>A	c.(2740-2742)gGc>gAc	p.G914D	MYO18B_ENST00000536101.1_Missense_Mutation_p.G914D|MYO18B_ENST00000407587.2_Missense_Mutation_p.G914D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	914	Myosin head-like.					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						ATGGCCTCGGGCCTGTACCAG	0.557000													19	90					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577230	14577230	+	Silent	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:14577230T>C	ENST00000544627.1	+	2	725	c.405T>C	c.(403-405)gcT>gcC	p.A135A	ATF7IP_ENST00000261168.4_Silent_p.A127A|ATF7IP_ENST00000543189.1_Silent_p.A127A|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Silent_p.A127A|ATF7IP_ENST00000540793.1_Silent_p.A127A			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	127					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						AACTGCCTGCTGAACCAGTTT	0.478000													47	33					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139838901	139838901	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr8:139838901C>A	ENST00000303045.6	-	6	1415	c.969_splice	c.e6+1	p.Q323_splice	COL22A1_ENST00000435777.1_Splice_Site_p.Q323_splice	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	323	TSP N-terminal.				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)			CTGCCCTTACCTGTGGGATGC	0.527000										HNSCC(7;0.00092)			17	76					7.07596e-05	7.74986e-05	1	1	0
OR13D1	286365	broad.mit.edu	37	9	107457179	107457179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr9:107457179C>A	ENST00000318763.5	+	1	520	c.477C>A	c.(475-477)tgC>tgA	p.C159*		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TGGCCATCTGCAACCCACTGA	0.532000													32	112					5.45727e-16	7.90181e-16	1	1	0
SEMA3E	9723	broad.mit.edu	37	7	83095868	83095868	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:83095868T>A	ENST00000307792.3	-	4	853	c.386A>T	c.(385-387)cAc>cTc	p.H129L	SEMA3E_ENST00000427262.1_Missense_Mutation_p.H69L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	129	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GGTCAGAAGGTGTGTCCTGTT	0.383000													33	60					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158223456	158223456	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:158223456G>T	ENST00000313708.6	-	9	1088	c.806C>A	c.(805-807)cCg>cAg	p.P269Q	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.P238Q|EBF1_ENST00000517373.1_Missense_Mutation_p.P261Q	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	269	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding	p.P269R(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTTCACTCGGGCTGATGGC	0.458000			T	HMGA2	lipoma								7	53					0.0381472	0.038796	1	1	0
SNTG2	54221	broad.mit.edu	37	2	1251197	1251197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:1251197C>A	ENST00000308624.5	+	12	1116	c.987C>A	c.(985-987)taC>taA	p.Y329*	SNTG2_ENST00000407292.1_Nonsense_Mutation_p.Y202*	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	329	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CGTCCTTCTACGTTTTCAGCA	0.532000													23	48					3.62473e-10	4.49707e-10	1	1	0
KIR2DL1	3802	broad.mit.edu	37	19	55281320	55281320	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:55281320C>A	ENST00000336077.6	+	1	58	c.18C>A	c.(16-18)gtC>gtA	p.V6V	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL1_ENST00000291633.7_Silent_p.V6V|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	6					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCTTGGTCGTCAGCATGGCGT	0.612000											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	20	61					3.5997e-14	4.98292e-14	1	1	0
UGGT2	55757	broad.mit.edu	37	13	96506724	96506724	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr13:96506724C>T	ENST00000376747.3	-	35	4084	c.4014G>A	c.(4012-4014)gtG>gtA	p.V1338V		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1338	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GATCATGTCTCACAATCTAAA	0.343000													8	23					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391468	49391468	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:49391468A>T	ENST00000421952.2	-	2	1212	c.1191T>A	c.(1189-1191)caT>caA	p.H397Q		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	397	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GTGTCTGGCTATGGCGGGGCG	0.617000													24	33					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77638085	77638085	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:77638085G>T	ENST00000461745.1	+	17	3583		c.e17+1		ROBO2_ENST00000332191.8_Splice_Site|ROBO2_ENST00000487694.3_Splice_Site	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)						apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AATTATGCTGGTAAGTGACTA	0.393000													33	70					1.61788e-16	2.35974e-16	1	1	0
PGBD2	267002	broad.mit.edu	37	1	249211655	249211655	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:249211655G>T	ENST00000355360.4	+	3	389	c.119G>T	c.(118-120)cGa>cTa	p.R40L	PGBD2_ENST00000539153.1_Missense_Mutation_p.R288L|PGBD2_ENST00000329291.5_Missense_Mutation_p.R291L	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	291										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)			AAGCCTGTGCGACTTGGCTAC	0.552000													155	115					2.78738e-67	5.3254e-67	1	1	0
GRIK4	2900	broad.mit.edu	37	11	120744844	120744844	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:120744844C>A	ENST00000527524.2	+	10	1263	c.976C>A	c.(976-978)Caa>Aaa	p.Q326K	RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.Q326K			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	326					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GAACCGGAGCCAAGAGATCGG	0.647000													11	38					9.05144e-12	1.17669e-11	1	1	0
TUBA3C	7278	broad.mit.edu	37	13	19751590	19751590	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr13:19751590G>T	ENST00000400113.3	-	4	637	c.533C>A	c.(532-534)tCc>tAc	p.S178Y		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	178					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CACGGCCGTGGAGACCTGGGG	0.557000													25	139					1.33986e-20	2.07575e-20	1	1	0
NLRP11	204801	broad.mit.edu	37	19	56307507	56307507	+	Missense_Mutation	SNP	C	C	T	rs141720579		TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:56307507C>T	ENST00000443188.1	-	8	2991	c.2281G>A	c.(2281-2283)Gac>Aac	p.D761N	NLRP11_ENST00000592953.1_Missense_Mutation_p.D662N|NLRP11_ENST00000360133.3_Missense_Mutation_p.D707N|NLRP11_ENST00000589824.2_Missense_Mutation_p.D707N|NLRP11_ENST00000589093.1_Missense_Mutation_p.D761N	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	761							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)		TTCATCCCGTCGCTCCTCAGC	0.502000													86	158					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81545816	81545816	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:81545816G>C	ENST00000548058.1	+	7	1949	c.1039G>C	c.(1039-1041)Gga>Cga	p.G347R	ACSS3_ENST00000548324.1_Missense_Mutation_p.G29R|ACSS3_ENST00000261206.3_Missense_Mutation_p.G346R			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	347						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						CTGGGTTGTTGGACATTCCTA	0.303000													40	90					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107431510	107431510	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:107431510G>T	ENST00000340010.5	-	5	737	c.553C>A	c.(553-555)Ctt>Att	p.L185I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L150I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	185					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATTCCAGAAAGCACTGTGACT	0.493000													24	23					6.21321e-17	9.15148e-17	1	1	0
PMS1	5378	broad.mit.edu	37	2	190728561	190728561	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:190728561G>T	ENST00000441310.2	+	10	2182	c.1949G>T	c.(1948-1950)gGc>gTc	p.G650V	PMS1_ENST00000447232.2_Intron|PMS1_ENST00000409823.3_Missense_Mutation_p.G611V|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.G474V|PMS1_ENST00000432292.3_Missense_Mutation_p.G474V	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	650					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CTAAAAGATGGCAGAAAAAAG	0.378000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					48	114					3.2641e-12	4.28996e-12	1	1	0
FAT1	2195	broad.mit.edu	37	4	187524354	187524354	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:187524354T>A	ENST00000441802.2	-	19	11535	c.11326A>T	c.(11326-11328)Agg>Tgg	p.R3776W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3776					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCGCTGCCCTGTGGTGGCGG	0.512000										HNSCC(5;0.00058)			3	19					0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147014252	147014252	+	Translation_Start_Site	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chrX:147014252G>A	ENST00000440235.2	+	0	263				FMR1_ENST00000370471.3_Missense_Mutation_p.D284N|FMR1_ENST00000370477.1_Missense_Mutation_p.D284N|FMR1_ENST00000218200.8_Missense_Mutation_p.D284N|FMR1_ENST00000370475.4_Missense_Mutation_p.D284N|FMR1_ENST00000439526.2_Missense_Mutation_p.D284N|FMR1_ENST00000334557.6_Missense_Mutation_p.D284N|FMR1_ENST00000370470.1_Missense_Mutation_p.D284N			Q06787	FMR1_HUMAN	fragile X mental retardation 1						mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTGCTGAAGATGTAATACA	0.328000									Fragile X syndrome				36	40					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168139308	168139308	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:168139308G>T	ENST00000519560.1	-	24	2954	c.2535C>A	c.(2533-2535)gaC>gaA	p.D845E	CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.D845E|SLIT3_ENST00000332966.8_Missense_Mutation_p.D845E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	845					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)			GAGATGTGAGGTCGTTGAAGG	0.458000													20	68					2.39187e-15	3.43007e-15	1	1	0
NEB	4703	broad.mit.edu	37	2	152544861	152544861	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:152544861G>T	ENST00000427231.2	-	25	2562	c.2360C>A	c.(2359-2361)cCa>cAa	p.P787Q	NEB_ENST00000604864.1_Missense_Mutation_p.P787Q|NEB_ENST00000603639.1_Missense_Mutation_p.P787Q|NEB_ENST00000172853.10_Missense_Mutation_p.P787Q|NEB_ENST00000397345.3_Missense_Mutation_p.P787Q|NEB_ENST00000409198.1_Missense_Mutation_p.P787Q	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	787					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)		AGCATCTGCTGGTATATGGCA	0.383000													15	25					2.23348e-06	2.53921e-06	1	1	0
LCE3D	84648	broad.mit.edu	37	1	152552228	152552228	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:152552228C>A	ENST00000368787.3	-	2	241	c.185G>T	c.(184-186)cGa>cTa	p.R62L		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	62					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GCGCCGGCATCGGTGGTGGCG	0.687000													71	183					2.17656e-39	3.96823e-39	1	1	0
FAM74A3	728495	broad.mit.edu	37	9	40715819	40715819	+	RNA	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr9:40715819T>A	ENST00000604146.1	+	0	158					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AACTGAAAGGTGATCAGACTC	0.547000													7	2					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100309	3100309	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr16:3100309C>T	ENST00000336577.4	+	4	660	c.423C>T	c.(421-423)ctC>ctT	p.L141L	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	141					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						TGCGGGTCCTCATGAGCTATG	0.632000													14	115					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38651407	38651407	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:38651407G>T	ENST00000413689.1	-	7	945	c.752C>A	c.(751-753)gCt>gAt	p.A251D	SCN5A_ENST00000425664.1_Missense_Mutation_p.A251D|SCN5A_ENST00000449557.2_Missense_Mutation_p.A251D|SCN5A_ENST00000423572.2_Missense_Mutation_p.A251D|SCN5A_ENST00000414099.2_Missense_Mutation_p.A251D|SCN5A_ENST00000333535.4_Missense_Mutation_p.A251D|SCN5A_ENST00000451551.2_Missense_Mutation_p.A251D|SCN5A_ENST00000443581.1_Missense_Mutation_p.A251D|SCN5A_ENST00000455624.2_Missense_Mutation_p.A251D|SCN5A_ENST00000450102.2_Missense_Mutation_p.A251D	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	251					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)	CATCACATCAGCCAGCTTCTT	0.597000													18	79					1.99824e-07	2.34303e-07	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62291631	62291631	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:62291631C>A	ENST00000378024.4	-	5	10532	c.10258G>T	c.(10258-10260)Gtg>Ttg	p.V3420L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3420					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)				TTTAGCTCCACGTCAGGCATA	0.403000													49	81					2.64894e-19	4.00017e-19	1	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37518270	37518270	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:37518270G>A	ENST00000299824.1	+	3	472	c.283G>A	c.(283-285)Gat>Aat	p.D95N	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.D95N|PPP1R16B_ENST00000468265.1_3'UTR	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	95					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)				GGTCAGCCCTGATTTGTGCAA	0.602000													71	130					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106209271	106209271	+	RNA	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:106209271C>A	ENST00000390548.2	-	0	137																											CGCCGCTGGTCAGGGCGCCTG	0.657000													15	40					1.55795e-14	2.18698e-14	1	1	0
LPHN1	22859	broad.mit.edu	37	19	14262214	14262214	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:14262214G>A	ENST00000340736.6	-	24	4193	c.3896C>T	c.(3895-3897)gCg>gTg	p.A1299V	LPHN1_ENST00000361434.3_Missense_Mutation_p.A1294V|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1299					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCCTTGGCCGCGCTGCTGCT	0.726000													8	17					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076853	9076853	+	Silent	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:9076853G>A	ENST00000397910.4	-	3	10796	c.10593C>T	c.(10591-10593)acC>acT	p.T3531T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3532	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						TAGGAGCTGTGGTTACGTCCA	0.517000													86	140					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7773093	7773093	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:7773093C>A	ENST00000338316.4	+	18	2352	c.2263C>A	c.(2263-2265)Ctg>Atg	p.L755M	ADCY2_ENST00000537121.1_Missense_Mutation_p.L575M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	755					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTCCGTGTTCCTGCGGGTAAA	0.498000													66	126					4.46356e-37	8.08851e-37	1	1	0
FBL	2091	broad.mit.edu	37	19	40328440	40328440	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr19:40328440C>T	ENST00000221801.3	-	6	706	c.593G>A	c.(592-594)cGt>cAt	p.R198H	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	198					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		AATGAGGTCACGGCCAGAGCG	0.473000													17	62					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759803	55759803	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:55759803C>A	ENST00000343399.3	+	1	909	c.909C>A	c.(907-909)gtC>gtA	p.V303V		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGAGCATGGTCCAGAAGATGA	0.388000													23	60					3.10358e-05	3.43057e-05	1	1	0
CSNK2A2	1459	broad.mit.edu	37	16	58220683	58220683	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr16:58220683C>A	ENST00000262506.3	-	3	477	c.294G>T	c.(292-294)ctG>ctT	p.L98L	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	98	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						CAGTGTCAATCAGCTTAATGA	0.428000													29	108					5.91797e-21	9.24006e-21	1	1	0
CHD4	1108	broad.mit.edu	37	12	6709016	6709016	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:6709016A>G	ENST00000309577.6	-	10	1568	c.1405T>C	c.(1405-1407)Tct>Cct	p.S469P	CHD4_ENST00000544484.1_Missense_Mutation_p.S466P|CHD4_ENST00000544040.1_Missense_Mutation_p.S462P|CHD4_ENST00000357008.2_Missense_Mutation_p.S469P			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	469					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						TGGTAGGAAGAAGGACAGGTA	0.562000													69	44					0	0	1	0	0
KCNJ13	3769	broad.mit.edu	37	2	233633139	233633139	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:233633139C>T	ENST00000233826.3	-	3	984	c.845G>A	c.(844-846)tGc>tAc	p.C282Y	GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373563.4_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.C282Y|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000409480.1_Intron|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000452341.2_Intron	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	282						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		CCTCCTTTGGCATATTTCTCC	0.438000													71	154					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23853925	23853925	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:23853925G>T	ENST00000405093.3	-	36	5361	c.5289_splice	c.e36-1	p.A1764_splice	MYH6_ENST00000356287.3_Splice_Site_p.A1764_splice	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1764					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CATCATGGCGGCCTGTGTGCA	0.602000													46	75					6.31075e-24	1.02272e-23	1	1	0
ARFIP2	23647	broad.mit.edu	37	11	6501566	6501566	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:6501566T>C	ENST00000254584.2	-	2	169	c.86A>G	c.(85-87)gAt>gGt	p.D29G	ARFIP2_ENST00000525235.1_Missense_Mutation_p.D29G|ARFIP2_ENST00000396777.3_Missense_Mutation_p.D29G|ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000423813.2_Intron	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	29					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCCAGCCCATCATCTTCAGG	0.488000													6	15					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132415659	132415659	+	Splice_Site	SNP	T	T	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:132415659T>G	ENST00000337331.5	-	15	2175		c.e15-2		NPHP3_ENST00000326682.8_Intron	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)						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						CTTCTTCTCCTGCACCAGTTT	0.443000													36	58					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47305794	47305794	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:47305794G>C	ENST00000342922.4	+	11	2285	c.1928G>C	c.(1927-1929)aGt>aCt	p.S643T	MADD_ENST00000395344.3_Missense_Mutation_p.S643T|MADD_ENST00000395336.3_Missense_Mutation_p.S643T|MADD_ENST00000402799.1_Missense_Mutation_p.S643T|MADD_ENST00000311027.5_Missense_Mutation_p.S643T|MADD_ENST00000407859.3_Missense_Mutation_p.S643T|MADD_ENST00000349238.3_Missense_Mutation_p.S643T|MADD_ENST00000406482.1_Missense_Mutation_p.S643T|MADD_ENST00000402192.2_Missense_Mutation_p.S643T	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	643					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GACTTTGTCAGTGAAATGATG	0.468000													61	140					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64875963	64875963	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:64875963C>T	ENST00000279281.3	+	5	1112	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		TGGCGGCCTTCGCCCGGCAGC	0.716000													5	17					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70209306	70209306	+	Silent	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:70209306G>T	ENST00000269503.4	-	3	863	c.90C>A	c.(88-90)tcC>tcA	p.S30S	CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000585159.1_Silent_p.S30S	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	30						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CCCCCAGGCAGGATCCGCAgc	0.761000													3	6					0.004672	0.00481699	1	1	0
EYA3	2140	broad.mit.edu	37	1	28339655	28339655	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:28339655C>A	ENST00000373871.3	-	9	976	c.736G>T	c.(736-738)Gcg>Tcg	p.A246S	EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_Missense_Mutation_p.A193S|EYA3_ENST00000540618.1_Missense_Mutation_p.A200S|EYA3_ENST00000436342.2_Missense_Mutation_p.A120S|EYA3_ENST00000373863.3_Missense_Mutation_p.A200S|EYA3_ENST00000373864.1_Missense_Mutation_p.A90S			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	246					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GGTGCAGGCGCCATGACACTA	0.512000													55	84					2.84144e-21	4.47152e-21	1	1	0
MAGI2	9863	broad.mit.edu	37	7	77756639	77756639	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:77756639G>T	ENST00000354212.4	-	19	3551	c.3298C>A	c.(3298-3300)Caa>Aaa	p.Q1100K	MAGI2_ENST00000419488.1_Missense_Mutation_p.Q1086K|MAGI2_ENST00000522391.1_Missense_Mutation_p.Q1100K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1100	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCTGGGGGTTGCCTGTAATCC	0.587000													57	94					9.59835e-30	1.64937e-29	1	1	0
NEBL	10529	broad.mit.edu	37	10	21101791	21101791	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:21101791C>G	ENST00000377122.4	-	24	2821	c.2425G>C	c.(2425-2427)Gtg>Ctg	p.V809L	NEBL_ENST00000417816.2_Missense_Mutation_p.V146L|NEBL_ENST00000377159.4_Missense_Mutation_p.V112L	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	809					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCTTCCTCACTCTCTCTGTC	0.468000													18	20					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706772	96706772	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:96706772G>T	ENST00000389672.5	+	3	1087	c.1049G>T	c.(1048-1050)tGg>tTg	p.W350L	EPHA6_ENST00000470610.2_Missense_Mutation_p.W350L|EPHA6_ENST00000542517.1_Missense_Mutation_p.W256L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	255	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GATGGAGATTGGCTGGTTCCT	0.428000													32	91					2.61193e-14	3.62398e-14	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176564196	176564196	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:176564196C>A	ENST00000367662.3	+	3	2620	c.1456C>A	c.(1456-1458)Cca>Aca	p.P486T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P486T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	486	Metalloprotease.				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						GGGCTTTGAGCCAGAGCCTGA	0.527000													29	127					2.36697e-06	2.68078e-06	1	1	0
VEGFC	7424	broad.mit.edu	37	4	177713413	177713413	+	Missense_Mutation	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:177713413A>G	ENST00000280193.2	-	1	468	c.53T>C	c.(52-54)cTg>cCg	p.L18P		NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	18					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACCCGGGAGCAGCGCAGCGGC	0.746000													3	7					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96435944	96435944	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr9:96435944C>A	ENST00000359246.4	+	18	2793	c.2426C>A	c.(2425-2427)tCc>tAc	p.S809Y	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	809					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 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			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCCTCCGACTCCTGCCTGCAG	0.672000													13	53					9.31168e-06	1.04473e-05	1	1	0
MOCS3	27304	broad.mit.edu	37	20	49576319	49576319	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:49576319G>A	ENST00000244051.1	+	1	957	c.940G>A	c.(940-942)Gcc>Acc	p.A314T		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	314					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GGACTATGAAGCCTTCTGTGG	0.582000													51	73					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39636968	39636968	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:39636968G>T	ENST00000246639.2	-	1	424	c.292C>A	c.(292-294)Cgc>Agc	p.R98S	KRT35_ENST00000393989.1_Missense_Mutation_p.R128S			Q92764	KRT35_HUMAN	keratin 35	128	Coil 1A.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TCACGGATGCGGCTCTCCAGG	0.597000													37	58					7.61165e-28	1.29312e-27	1	1	0
KCNA5	3741	broad.mit.edu	37	12	5153823	5153823	+	Silent	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:5153823C>G	ENST00000252321.3	+	1	739	c.510C>G	c.(508-510)ccC>ccG	p.P170P		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	170						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCAACCGGCCCAGCTTCGACG	0.652000													15	44					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798733	57798733	+	Silent	SNP	C	C	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:57798733C>T	ENST00000302622.3	+	1	332	c.309C>T	c.(307-309)tcC>tcT	p.S103S	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	103					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)				ATTGCCTATCCCAGCTCTTCA	0.478000													64	129					0	0	1	0	0
MIR1302-3	100302128	broad.mit.edu	37	2	114340670	114340670	+	RNA	SNP	A	A	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:114340670A>T	ENST00000408128.1	-	0	3					NR_031632.1																						ctagctgggcatcctgtcttt	0.403000													46	141					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197062325	197062325	+	Silent	SNP	G	G	T	rs142024644		TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:197062325G>T	ENST00000367409.4	-	21	9407	c.9151C>A	c.(9151-9153)Cgg>Agg	p.R3051R	ASPM_ENST00000294732.7_Silent_p.R1466R|ASPM_ENST00000367408.1_Silent_p.R716R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3051	IQ 36.				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						GATTTCTGCCGAAGAAAGACC	0.353000													69	185					8.73484e-25	1.42717e-24	1	1	0
GRIP1	23426	broad.mit.edu	37	12	66932990	66932990	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:66932990C>G	ENST00000359742.4	-	4	526	c.286G>C	c.(286-288)Gat>Cat	p.D96H	GRIP1_ENST00000398016.3_Missense_Mutation_p.D96H|GRIP1_ENST00000286445.7_Missense_Mutation_p.D96H			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	96	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCACCCACATCCAGCTGGTCA	0.463000													72	126					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183195899	183195899	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:183195899G>T	ENST00000264144.4	+	9	1198	c.1133G>T	c.(1132-1134)tGg>tTg	p.W378L	LAMC2_ENST00000493293.1_Missense_Mutation_p.W378L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	378	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCAGCACCCTGGGTTGAACAG	0.522000													134	254					3.81006e-50	7.21018e-50	1	1	0
XYLB	9942	broad.mit.edu	37	3	38411653	38411653	+	Silent	SNP	A	A	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:38411653A>G	ENST00000207870.3	+	9	843	c.753A>G	c.(751-753)tcA>tcG	p.S251S	XYLB_ENST00000542835.1_Silent_p.S114S	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	251					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CAGTACCATCATGCTCAGTTG	0.502000													53	70					0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63541350	63541350	+	Missense_Mutation	SNP	A	A	T	rs142450720		TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:63541350A>T	ENST00000299178.2	-	2	1151	c.1046T>A	c.(1045-1047)aTg>aAg	p.M349K		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	349					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACTAAAAAACATGTATATCCA	0.398000													52	119					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187557216	187557216	+	Silent	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:187557216C>A	ENST00000441802.2	-	6	4355	c.4146G>T	c.(4144-4146)gtG>gtT	p.V1382V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1382	Cadherin 12.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGGAGGCTCCACAGATATTA	0.468000										HNSCC(5;0.00058)			9	28					2.74318e-10	3.42468e-10	1	1	0
GRIN2C	2905	broad.mit.edu	37	17	72842922	72842922	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr17:72842922G>T	ENST00000293190.5	-	10	2285	c.2139C>A	c.(2137-2139)gaC>gaA	p.D713E	GRIN2C_ENST00000347612.4_Missense_Mutation_p.D713E	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	713					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)	TGGTGAGCGCGTCCTCCACCG	0.622000													17	72					5.01169e-05	5.50918e-05	1	1	0
SSBP2	23635	broad.mit.edu	37	5	80946159	80946159	+	Splice_Site	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:80946159C>A	ENST00000320672.4	-	2	273		c.e2-1		SSBP2_ENST00000505980.1_Splice_Site|SSBP2_ENST00000515395.1_Splice_Site|SSBP2_ENST00000514493.1_Splice_Site|SSBP2_ENST00000509053.1_Splice_Site	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2						regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GAGTGCTAACCTGGAAAACAA	0.299000													8	12					0.307466	0.309016	1	1	0
KRT1	3848	broad.mit.edu	37	12	53074043	53074043	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:53074043C>G	ENST00000252244.3	-	1	148	c.90G>C	c.(88-90)agG>agC	p.R30S		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	30	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.R30R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TGCTGGTGGTCCTGCGCTGGT	0.562000													31	59					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47541482	47541482	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr21:47541482G>A	ENST00000300527.4	+	18	1575	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	COL6A2_ENST00000310645.5_Missense_Mutation_p.D491N|COL6A2_ENST00000409416.1_Missense_Mutation_p.D491N|COL6A2_ENST00000397763.1_Missense_Mutation_p.D491N|COL6A2_ENST00000357838.4_Missense_Mutation_p.D491N	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	491	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ATCTCGGGGAGACCCCGGTGA	0.657000													17	28					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15761671	15761671	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:15761671G>T	ENST00000378076.3	-	1	453	c.100C>A	c.(100-102)Ccc>Acc	p.P34T		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	34					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGACAGGCGGGGGACCACAGC	0.697000													5	3					0.0293803	0.0300332	1	1	0
ZNF519	162655	broad.mit.edu	37	18	14105358	14105358	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:14105358T>C	ENST00000590202.1	-	3	1333	c.1181A>G	c.(1180-1182)cAt>cGt	p.H394R	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CATTCTCTGATGCTGAGTAAC	0.408000													59	102					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38937723	38937723	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:38937723C>A	ENST00000310301.4	-	2	82	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	VPS41_ENST00000395969.2_Missense_Mutation_p.G10W	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	10					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCAAGGGACCCAGTTTCCTAT	0.433000													9	64					7.48243e-07	8.58828e-07	1	1	0
ITGA1	3672	broad.mit.edu	37	5	52206125	52206125	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:52206125T>C	ENST00000282588.6	+	14	2191	c.1733T>C	c.(1732-1734)gTa>gCa	p.V578A		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	578					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ATTGCTGCTGTAAAAGACCTC	0.458000													30	50					0	0	1	0	0
CS	1431	broad.mit.edu	37	12	56666954	56666954	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:56666954T>A	ENST00000548567.1	-	12	1587	c.1117A>T	c.(1117-1119)Agc>Tgc	p.S373C	CS_ENST00000351328.3_Missense_Mutation_p.S439C|CS_ENST00000542324.2_Missense_Mutation_p.S426C			O75390	CISY_HUMAN	citrate synthase	439					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		AAGGCTCGGCTCCAGATGAGC	0.507000													14	117					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5331444	5331444	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:5331444G>T	ENST00000396872.2	+	5	697	c.536G>T	c.(535-537)gGc>gTc	p.G179V	SLC29A4_ENST00000297195.4_Missense_Mutation_p.G179V|SLC29A4_ENST00000406453.3_Missense_Mutation_p.A167S	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	179					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GTGGCCTTCGGCTGCACAGGT	0.642000													28	43					1.17739e-12	1.56463e-12	1	1	0
STPG1	90529	broad.mit.edu	37	1	24710416	24710416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:24710416delT	ENST00000374409.1	-	4	521	c.267delA	c.(265-267)aafs	p.K89fs	STPG1_ENST00000003583.8_Frame_Shift_Del_p.K42fs|STPG1_ENST00000337248.4_Frame_Shift_Del_p.K89fs|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Frame_Shift_Del_p.K42fs	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		TGCAAGTTCCTTTCTTGGACA	0.413													55	150	---	---	---	---					
THEMIS2	9473	broad.mit.edu	37	1	28209508	28209509	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:28209508_28209509delAG	ENST00000373921.3	+	4	1677_1678	c.1673_1674delAG	c.(1672-1674)cfs	p.Q558fs	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Frame_Shift_Del_p.Q429fs	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		CCTAAAAATCAGGGCCTCAGCA	0.554													9	100	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													4	8	---	---	---	---					
ADAM15	8751	broad.mit.edu	37	1	155025221	155025221	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:155025221delG	ENST00000356955.2	+	2	255	c.154delG	c.(154-156)atfs	p.D52fs	ADAM15_ENST00000360674.4_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000359280.4_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000368410.2_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000368412.3_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000449910.2_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000368413.1_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000355956.2_Frame_Shift_Del_p.D52fs|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Frame_Shift_Del_p.D62fs|ADAM15_ENST00000447332.3_Frame_Shift_Del_p.T61fs|ADAM15_ENST00000271836.6_Frame_Shift_Del_p.D52fs	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	52					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTTCAGGACGATCTCCCAAT	0.572											OREG0013847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	19	---	---	---	---					
OR6K2	81448	broad.mit.edu	37	1	158669502	158669503	+	Frame_Shift_Ins	INS	-	-	A			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:158669502_158669503insA	ENST00000359610.2	-	1	983_984	c.940_941insT	c.(940-942)cgtfs	p.R314fs		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGTCTTACGGAAAAAAATATC	0.371													15	192	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237886443	237886444	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr1:237886443_237886444insT	ENST00000366574.2	+	74	10887_10888	c.10570_10571insT	c.(10570-10572)tagfs	p.*3524fs	RYR2_ENST00000360064.6_Frame_Shift_Ins_p.*3522fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.*3508fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3524					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)			GGATCCTGCTATTAGATGGCAA	0.396													234	197	---	---	---	---					
MYT1L	23040	broad.mit.edu	37	2	1983501	1983501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:1983501delC	ENST00000399161.2	-	6	796	c.49delG	c.(49-51)ttfs	p.V17fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.V17fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	17					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)		ATACCTCGAACCCCTTTGGAC	0.597													21	37	---	---	---	---					
COX7A2L	9167	broad.mit.edu	37	2	42578485	42578486	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr2:42578485_42578486delCA	ENST00000378669.1	-	4	1047_1048	c.218_219delTG	c.(217-219)gfs	p.V73fs	COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000234301.2_Frame_Shift_Del_p.V73fs			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	73					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			lung(4)	4						GGTAGACGGGCACACCATCAGC	0.446													12	38	---	---	---	---					
CLCN2	1181	broad.mit.edu	37	3	184071074	184071079	+	In_Frame_Del	DEL	CTCCTG	CTCCTG	-	rs150698157		TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr3:184071074_184071079delCTCCTG	ENST00000265593.4	-	17	2158_2163	c.1987_1992delCAGGAG	c.(1987-1992)del	p.QE663del	CLCN2_ENST00000434054.2_In_Frame_Del_p.QE619del|CLCN2_ENST00000344937.7_In_Frame_Del_p.QE646del|CLCN2_ENST00000457512.1_In_Frame_Del_p.QE663del|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	663						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TAGGGGGACCCTCCTGATCAGATAGT	0.597													29	125	---	---	---	---					
HAND2	9464	broad.mit.edu	37	4	174449937	174449938	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr4:174449937_174449938insT	ENST00000359562.4	-	1	1442_1443	c.503_504insA	c.(502-504)agcfs	p.S168fs	HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	168					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TGATCTCTGCCTTGAAGGCCTC	0.609													20	30	---	---	---	---					
PCDHGA5	56110	broad.mit.edu	37	5	140745211	140745211	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr5:140745211delC	ENST00000518069.1	+	1	1314	c.1314delC	c.(1312-1314)atfs	p.I438fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGCCACATCCCCTTGAAAG	0.473													60	134	---	---	---	---					
HTR5A	3361	broad.mit.edu	37	7	154875878	154875878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr7:154875878delC	ENST00000287907.2	+	2	1331	c.755delC	c.(754-756)gcfs	p.A252fs	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	252						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AAGGACTCTGCCAAACAGCCC	0.617													11	30	---	---	---	---					
NR4A3	8013	broad.mit.edu	37	9	102626025	102626025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr9:102626025delC	ENST00000330847.1	+	7	1834	c.1790delC	c.(1789-1791)gcfs	p.A597fs	NR4A3_ENST00000395097.2_Frame_Shift_Del_p.A586fs			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	586					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GTCCTGGGTGCCCTGGTAGAA	0.532			T	EWSR1	extraskeletal myxoid chondrosarcoma								14	45	---	---	---	---					
DCLRE1A	9937	broad.mit.edu	37	10	115608890	115608897	+	Frame_Shift_Del	DEL	ATTAATAA	ATTAATAA	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr10:115608890_115608897delATTAATAA	ENST00000361384.2	-	2	2884_2891	c.1967_1974delTTATTAAT	c.(1966-1974)cfs	p.LIN656fs	DCLRE1A_ENST00000369305.1_Frame_Shift_Del_p.LIN656fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	656					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CAGATTCTGTATTAATAAGGTGATCTGA	0.409								Other identified genes with known or suspected DNA repair function					55	155	---	---	---	---					
NLRP10	338322	broad.mit.edu	37	11	7982588	7982588	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr11:7982588delC	ENST00000328600.2	-	2	732	c.571delG	c.(571-573)ccfs	p.A191fs		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	191	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)		GTACCGGTGGCCCAGTCCAAC	0.527													18	57	---	---	---	---					
OR6C74	254783	broad.mit.edu	37	12	55641903	55641904	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr12:55641903_55641904delTC	ENST00000343870.4	+	1	922_923	c.832_833delTC	c.(832-834)tfs	p.S278fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GCTCAGCACTTCTGTTGCCCCC	0.381													21	130	---	---	---	---					
TRAC	28755	broad.mit.edu	37	14	23016739	23016740	+	RNA	INS	-	-	T			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:23016739_23016740insT	ENST00000478163.3	+	0	273																											GCTTTGGTGCCTTCGCAGGCTG	0.510													19	29	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256459	69256460	+	Frame_Shift_Ins	INS	-	-	G			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:69256459_69256460insG	ENST00000439696.2	-	2	1108_1109	c.807_808insC	c.(805-810)ccggggfs	p.PG269fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.PG269fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	269					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G271fs*36(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAGCCACCCCCGGGCAGCCCCA	0.634											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	67	105	---	---	---	---					
IGHV3-66	28412	broad.mit.edu	37	14	107131320	107131320	+	RNA	DEL	C	C	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr14:107131320delC	ENST00000390632.2	-	0	139																											accagctgcacctcacactgg	0.527													102	61	---	---	---	---					
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)del	p.E91del	COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576													7	138	---	---	---	---					
SLC39A6	25800	broad.mit.edu	37	18	33691066	33691067	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr18:33691066_33691067insAA	ENST00000269187.5	-	9	2283_2284	c.2070_2071insTT	c.(2068-2073)ttcactfs	p.T691fs	SLC39A6_ENST00000590986.1_Frame_Shift_Ins_p.T691fs|SLC39A6_ENST00000440549.2_Frame_Shift_Ins_p.T416fs	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	691						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GCAGTAAGTGCAAATATCCACA	0.342													22	53	---	---	---	---					
MMP24	10893	broad.mit.edu	37	20	33862186	33862188	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:33862186_33862188delAGA	ENST00000246186.6	+	9	1797_1799	c.1712_1714delAGA	c.(1711-1716)cag>c	p.QK571del	MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	571					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGCTGCAACCAGAAGGAGGTGGA	0.626													48	109	---	---	---	---					
MTG2	26164	broad.mit.edu	37	20	60773745	60773745	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chr20:60773745delG	ENST00000370823.3	+	5	542	c.524delG	c.(523-525)tcfs	p.C175fs	MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_5'UTR	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		GACCTGTCTTGCGTGGGAGAT	0.627													14	30	---	---	---	---					
MAGEB6	158809	broad.mit.edu	37	X	26213091	26213091	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chrX:26213091delG	ENST00000379034.1	+	2	1277	c.1128delG	c.(1126-1128)ttfs	p.L376fs		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	376	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGCGTGTTTTGGCCGACAGCA	0.502													81	76	---	---	---	---					
PCDH11X	27328	broad.mit.edu	37	X	91873895	91873895	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A4YI-01A-11D-A25L-08	TCGA-NJ-A4YI-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	EC03A498-ED86-4FD5-85B5-0DB69DF0E0B5	9DD6F104-86F9-4E33-BEF4-D578F541C9EA	g.chrX:91873895delC	ENST00000373094.1	+	7	4845	c.4000delC	c.(4000-4002)cgfs	p.P1334fs	PCDH11X_ENST00000406881.1_Frame_Shift_Del_p.P1326fs|PCDH11X_ENST00000373097.1_Frame_Shift_Del_p.P1324fs|PCDH11X_ENST00000361655.2_Frame_Shift_Del_p.P1316fs|PCDH11X_ENST00000373088.1_Frame_Shift_Del_p.P1297fs|PCDH11X_ENST00000298274.8_Frame_Shift_Del_p.P1297fs|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1334					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						ACAGGCCAGACCGTCCAGAGG	0.378													84	63	---	---	---	---					
