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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ITGB6	3694	broad.mit.edu	37	2	160980358	160980359	+	Missense_Mutation	DNP	CG	AT	AT	rs61737767		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:160980358_160980359CG>AT	uc002ubh.2	-	11	1939_1940	c.1924_1925CG>AT	c.(1924-1926)cga>ATa	p.R642I	ITGB6_uc010fou.2_Missense_Mutation_p.R642I|ITGB6_uc010zcq.1_Missense_Mutation_p.R600I|ITGB6_uc010fov.1_Missense_Mutation_p.R642I	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	642					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACATTCTTCTCGGGCTTGGCCA	0.455000														119			5		0	0	6.4e-05	0	0
COPS7B	64708	broad.mit.edu	37	2	232672283	232672283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:232672283C>T	uc002vsh.1	+	7	879	c.776C>T	c.(775-777)cCc>cTc	p.P259L	COPS7B_uc010fxy.1_Silent_p.P207P|COPS7B_uc002vsg.1_Silent_p.P241P|COPS7B_uc002vsi.1_Silent_p.P134P|COPS7B_uc002vsj.1_Non-coding_Transcript|COPS7B_uc002vsk.1_Silent_p.P134P			Q9H9Q2	CSN7B_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.	0					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGAGTGTCCCCCTCACGCTG	0.602000														4			8		0	0	0.000157383	0	0
ASTL	431705	broad.mit.edu	37	2	96799703	96799703	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:96799703C>T	uc010yui.2	-	4	337	c.337_splice	c.e4+1	p.D113_splice		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	113					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TGCTCACTCACCGTACTTGCT	0.582000														13			7		0	0	0.000157383	0	0
OVOL2	58495	broad.mit.edu	37	20	18022193	18022193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:18022193C>T	uc002wqi.1	-	2	739	c.496G>A	c.(496-498)Gtc>Atc	p.V166I		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	Homo sapiens ovo-like 2 (Drosophila) (OVOL2), mRNA.	166					negative regulation of Notch signaling pathway|negative regulation of keratinocyte differentiation|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.V166F(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGTGTGCGGACGTGCCTCTTC	0.532000														17			20		0	0	0.00188189	0	0
SLC22A12	116085	broad.mit.edu	37	11	64367882	64367882	+	Silent	SNP	C	T	T	rs61743169	byFrequency	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:64367882C>T	uc001oam.1	+	7	2076	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G	SLC22A12_uc001oal.1_Silent_p.G222G|SLC22A12_uc009yps.1_Silent_p.G409G|SLC22A12_uc001oan.1_Silent_p.G335G|SLC22A12_uc009ypt.3_Silent_p.G261G	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	443					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TGGGGCTGGGCGGGGTGGGGG	0.652000														19			7		0	0	0.000442599	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741694	140741694	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:140741694C>T	uc003ljs.2	+	0	1992	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Silent_p.F664F|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	666	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAATCTTCGCGGATAGCC	0.652000														6			19		0	0	0.000586117	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95452438	95452438	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:95452438G>A	uc001kiz.2	-	5	543	c.345C>T	c.(343-345)ttC>ttT	p.F115F	FRA10AC1_uc001kiv.2_Non-coding_Transcript|FRA10AC1_uc001kjb.1_Silent_p.F115F|FRA10AC1_uc009xuh.1_Silent_p.F116F	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN	Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA.	115						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						CATTCCATAGGAATCTATGAT	0.358000														41			27		0	0	0.000339439	0	0
ACBD3	64746	broad.mit.edu	37	1	226349248	226349248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:226349248G>A	uc001hpy.3	-	3	759	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	238	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	p.R238W(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TGCTCCAACCGAAGcctttct	0.408000														32			34		0	0	0.00128727	0	0
CXorf38	159013	broad.mit.edu	37	X	40496279	40496279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:40496279C>T	uc004dew.3	-	3	648	c.601G>A	c.(601-603)Gta>Ata	p.V201I	CXorf38_uc010nhd.3_Non-coding_Transcript|CXorf38_uc004dev.1_Missense_Mutation_p.V82I|CXorf38_uc011mko.2_Missense_Mutation_p.V116I	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	Homo sapiens chromosome X open reading frame 38 (CXorf38), mRNA.	201										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CTGGAGTATACTGCCACAATC	0.358000														70			21		0	0	0.000295444	0	0
PCNXL2	80003	broad.mit.edu	37	1	233152877	233152877	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:233152877C>T	uc001hvl.2	-	26	4864	c.4629G>A	c.(4627-4629)acG>acA	p.T1543T	PCNXL2_uc001hvk.1_Silent_p.T195T|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1543						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTTTGGGAGACGTTACCATAT	0.383000														83			14		0	0	0.00185496	0	0
STK40	83931	broad.mit.edu	37	1	36809729	36809729	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:36809729G>A	uc001cak.1	-	8	1283	c.876C>T	c.(874-876)acC>acT	p.T292T	STK40_uc001cal.1_Silent_p.T297T|STK40_uc001cam.1_Silent_p.T292T|STK40_uc001can.1_Silent_p.T292T	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	292	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				ACTCAGGAATGGTATACTCGG	0.632000														12			27		0	0	0.00106085	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537318	5537318	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:5537318C>T	uc001maz.4	-	0	639	c.354G>A	c.(352-354)acG>acA	p.T118T	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	118										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGGGATCATTCGTTGGCAGGT	0.547000														37			29		0	0	0.000339439	0	0
LAMB1	3912	broad.mit.edu	37	7	107642205	107642205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:107642205G>A	uc003vev.2	-	0	244	c.83C>T	c.(82-84)cCa>cTa	p.P28L	LAMB1_uc003vew.2_Intron|LAMB1_uc003vex.3_Intron|LAMB1_uc010ljn.1_Intron|U3_uc022ajz.1_5'Flank	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	0					axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S27R(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAACAGAGTTGGGGGGACACA	0.617000														21			5		0	0	0.000602214	0	0
VRTN	55237	broad.mit.edu	37	14	74824954	74824954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:74824954G>A	uc021rwl.1	+	0	1468	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	VRTN_uc001xpw.4_Missense_Mutation_p.D490N	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	490					transposition, DNA-mediated		DNA binding|transposase activity	p.D490D(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CACAGGTGAGGACCCTCCCGC	0.662000														16			59		0	0	0.000781405	0	0
PADI4	23569	broad.mit.edu	37	1	17657550	17657550	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:17657550A>C	uc001baj.2	+	1	207	c.179A>C	c.(178-180)aAg>aCg	p.K60T	PADI4_uc009vpc.2_Missense_Mutation_p.K60T	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	60					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCAGCCAAGAAGAAATCCACA	0.602000														66			7		0	0	0.000157383	0	0
BCAT1	586	broad.mit.edu	37	12	24985744	24985744	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:24985744G>A	uc001rgd.4	-	8	1484	c.957C>T	c.(955-957)gcC>gcT	p.A319A	BCAT1_uc001rgc.3_Silent_p.A318A|BCAT1_uc010six.2_Silent_p.A331A|BCAT1_uc010siy.2_Silent_p.A282A|BCAT1_uc001rge.4_Silent_p.A258A	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	319					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TCCCCTCCAGGGCTGTTGTCA	0.423000														5			7		0	0	8.12818e-05	0	0
TMC7	79905	broad.mit.edu	37	16	19070812	19070812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:19070812C>T	uc002dfp.2	+	14	2232	c.2102C>T	c.(2101-2103)tCc>tTc	p.S701F	TMC7_uc002dfq.3_Missense_Mutation_p.S701F|TMC7_uc010vap.2_Missense_Mutation_p.S591F	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	701						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAGCAGCTATCCCTGGTAAGG	0.512000														92			53		0	0	0.000781405	0	0
VPS13C	54832	broad.mit.edu	37	15	62208096	62208096	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr15:62208096G>A	uc002agz.3	-	60	8272	c.8181C>T	c.(8179-8181)ttC>ttT	p.F2727F	VPS13C_uc002aha.3_Silent_p.F2684F|VPS13C_uc002ahb.2_Silent_p.F2727F|VPS13C_uc002ahc.2_Silent_p.F2684F|VPS13C_uc002ahd.1_Silent_p.F104F	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2727					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CACGTATGCGGAAATGTCCAT	0.448000														34			18		0	0	0.00152264	0	0
TTN	7273	broad.mit.edu	37	2	179417368	179417368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179417368C>T	uc021vsy.1	-	283	82780	c.82555G>A	c.(82555-82557)Gaa>Aaa	p.E27519K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E21214K|TTN_uc021vta.1_Missense_Mutation_p.E21147K|TTN_uc021vtb.1_Missense_Mutation_p.E21022K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28446	Fibronectin type-III 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTCAATTTCACATGTCTTA	0.448000														36			29		0	0	0.000339439	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824691	96824691	+	Silent	SNP	G	A	A	rs150790274	byFrequency	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:96824691G>A	uc001kkb.3	-	3	603	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	CYP2C8_uc010qoa.2_Silent_p.L100L|CYP2C8_uc010qoc.2_Silent_p.L68L|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.L84L|CYP2C8_uc021pwl.1_Silent_p.L100L|CYP2C8_uc010qod.1_Silent_p.L84L	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	170					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCACAGCCCAGGATGAAAGTG	0.308000														60			35		0	0	0.00195071	0	0
HTR2B	3357	broad.mit.edu	37	2	231973408	231973408	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:231973408C>T	uc002vro.3	-	3	1774	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Silent_p.E356E	NM_000867	NP_000858	P41595	5HT2B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	423					ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	ACTTAGAGTTCTCTGCCATTG	0.433000														41			23		0	0	0.000295444	0	0
ATOH1	474	broad.mit.edu	37	4	94751094	94751094	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:94751094G>A	uc003hta.1	+	0	1017	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.	339					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GAAGCGACGGGGAATTTTCCC	0.517000														12			33		0	0	0.000814825	0	0
TM4SF4	7104	broad.mit.edu	37	3	149193692	149193692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:149193692G>A	uc003exd.2	+	1	554	c.257G>A	c.(256-258)cGa>cAa	p.R86Q		NM_004617	NP_004608	P48230	T4S4_HUMAN	Homo sapiens transmembrane 4 L six family member 4 (TM4SF4), mRNA.	86						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGTGGGAAGCGATTTGCGGTG	0.552000														6			9		0	0	0.000978159	0	0
PAPD5	64282	broad.mit.edu	37	16	50259099	50259099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:50259099G>A	uc010vgo.2	+	10	1693	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K	PAPD5_uc002efz.3_Intron|PAPD5_uc010cbi.2_Non-coding_Transcript	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	Homo sapiens PAP associated domain containing 5 (PAPD5), transcript variant 1, mRNA.	443					DNA replication|cell division|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAAAATGTAGAAGTAAAACC	0.383000														28			12		0	0	0.000978159	0	0
ECT2L	345930	broad.mit.edu	37	6	139159581	139159581	+	Missense_Mutation	SNP	C	T	T	rs116211453	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:139159581C>T	uc003qif.2	+	4	597	c.272C>T	c.(271-273)tCc>tTc	p.S91F	ECT2L_uc021zfx.1_Missense_Mutation_p.S91F|ECT2L_uc011edq.1_Missense_Mutation_p.S22F	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	91	F-box.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TATATCTTTTCCTTTTTGAGT	0.423000			"""N, Splice, Mis"""		ETP ALL									35			16		0	0	0.000566183	0	0
SMARCD3	6604	broad.mit.edu	37	7	150945580	150945580	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:150945580G>A	uc003wjs.3	-	0	170	c.69C>T	c.(67-69)gtC>gtT	p.V23V	SMARCD3_uc003wjt.3_Intron|SMARCD3_uc003wju.3_Intron|SMARCD3_uc011kvh.1_Silent_p.V23V|SMARCD3_uc010lqa.1_Silent_p.V23V	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.	23					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACCCCATGGACCAGAAACT	0.657000														53			56		0	0	0.000781405	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77203529	77203529	+	Silent	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:77203529A>G	uc001syk.1	+	4	598	c.435A>G	c.(433-435)aaA>aaG	p.K145K	ZDHHC17_uc001syi.1_Non-coding_Transcript|ZDHHC17_uc001syj.2_Non-coding_Transcript	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	145					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						AACTAATGAAATATGGTGCAG	0.368000														9			8		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179598041	179598041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179598041C>T	uc021vsy.1	-	50	12472	c.12247G>A	c.(12247-12249)Gac>Aac	p.D4083N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D744N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5010							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCCACTGTCGTGCAGCTCA	0.398000														60			42		0	0	0.000437636	0	0
OR5M9	390162	broad.mit.edu	37	11	56230020	56230020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:56230020C>T	uc010rjj.2	-	0	858	c.858G>A	c.(856-858)atG>atA	p.M286I	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M286I(2)|p.P285H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GACTGTAGATCATGGGATTCA	0.423000														46			27		0	0	0.000720815	0	0
PALLD	23022	broad.mit.edu	37	4	169846138	169846138	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:169846138G>T	uc011cjx.2	+	19	3478	c.3267G>T	c.(3265-3267)caG>caT	p.Q1089H	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.Q1072H|PALLD_uc003irv.3_Missense_Mutation_p.Q690H|PALLD_uc003irw.3_Missense_Mutation_p.Q585H|PALLD_uc003irx.3_Missense_Mutation_p.Q298H	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1296					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGCTCATTCAGGGAGCCACAA	0.473000									Pancreatic Cancer, Familial Clustering of					10			38		5.71845e-15	5.07989e-14	0.00111076	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	G	G	rs146714035	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000														94			5		0	0	0.000602214	0	0
TP53	7157	broad.mit.edu	37	17	7579310	7579310	+	Splice_Site	SNP	A	G	G	rs68140816		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:7579310A>G	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGGCAACTGACCGTGCAAGT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				12			22		0	0	0.000720815	0	0
CACNG3	10368	broad.mit.edu	37	16	24373178	24373178	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:24373178C>T	uc002dmf.3	+	3	2144	c.942C>T	c.(940-942)ccC>ccT	p.P314P		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	314					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P314P(2)|p.P314H(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCACCACGCCCGTCTGAACTG	0.552000														25			13		0	0	0.000308642	0	0
BRAF	673	broad.mit.edu	37	7	140434507	140434507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:140434507G>A	uc003vwc.4	-	17	2252	c.2191C>T	c.(2191-2193)Ccc>Tcc	p.P731S		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	731					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TTCAAGGAGGGTTCTGATGCA	0.433000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					83			139		0	0	0.000781405	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														5			6		0	0	0.00116845	0	0
MAN1A2	10905	broad.mit.edu	37	1	117984892	117984892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:117984892C>T	uc001ehd.1	+	5	1616	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	MAN1A2_uc009whg.1_Missense_Mutation_p.L89F	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	299					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGAGAAACTCCTTCCTGCCTT	0.343000														65			70		0	0	0.000781405	0	0
THOC2	57187	broad.mit.edu	37	X	122754786	122754786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:122754786G>A	uc004etu.3	-	31	4279	c.4247C>T	c.(4246-4248)cCt>cTt	p.P1416L	THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Missense_Mutation_p.P237L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1416	Lys-rich.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGATGGAGAAGGGTGAGTATC	0.398000														177			101		0	0	0.000781405	0	0
PHYH	5264	broad.mit.edu	37	10	13336537	13336537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:13336537C>T	uc001imf.3	-	3	393	c.305G>A	c.(304-306)aGa>aAa	p.R102K	PHYH_uc001ime.3_Missense_Mutation_p.R2K	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	102					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GGTCACATCTCTCATTACTGT	0.398000														49			20		0	0	0.00121646	0	0
OR51G1	79324	broad.mit.edu	37	11	4944836	4944836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:4944836G>A	uc010qyr.2	-	0	734	c.734C>T	c.(733-735)tCt>tTt	p.S245F		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V244F(1)|p.V244V(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATATGAGAGACACAGGT	0.542000														42			22		0	0	0.000720815	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77244685	77244685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:77244685C>T	uc001syk.1	+	16	1982	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C		NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	607					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TGGCCTCTTTCGTCCTGTTAT	0.418000														84			51		0	0	0.000781405	0	0
BMP15	9210	broad.mit.edu	37	X	50659504	50659504	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:50659504C>A	uc011mnw.2	+	1	1125	c.1076C>A	c.(1075-1077)cCg>cAg	p.P359Q		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	359					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCCTGTGTCCCGTATAAGTAT	0.463000														38			37		2.09667e-21	1.87819e-20	0.000692331	1	0
GRHL2	79977	broad.mit.edu	37	8	102611373	102611373	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:102611373G>A	uc010mbu.3	+	7	1422	c.1092G>A	c.(1090-1092)gaG>gaA	p.E364E		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	364						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGAATGAAGAGGCGAAGGTGA	0.378000														24			12		0	0	0.00185496	0	0
MICAL2	9645	broad.mit.edu	37	11	12246316	12246316	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:12246316G>C	uc001mjz.3	+	12	1925	c.1637G>C	c.(1636-1638)cGc>cCc	p.R546P	MICAL2_uc010rch.1_Missense_Mutation_p.R546P|MICAL2_uc001mka.3_Missense_Mutation_p.R546P|MICAL2_uc010rci.2_Missense_Mutation_p.R546P|MICAL2_uc001mkb.3_Missense_Mutation_p.R546P|MICAL2_uc001mkc.3_Missense_Mutation_p.R546P|MICAL2_uc001mkd.3_Missense_Mutation_p.R375P|MICAL2_uc010rcj.2_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	546	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ACATCCTGGCGCAGTGGGTTG	0.642000														38			22		0	0	0.000295444	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220332750	220332750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:220332750G>A	uc010puk.1	-	28	3403	c.3239C>T	c.(3238-3240)cCa>cTa	p.P1080L	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.P1080L|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.P660L	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	1080					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTATCTTTTGGTGATTTTCC	0.279000														38			25		0	0	0.000878237	0	0
OR8D1	283159	broad.mit.edu	37	11	124180459	124180459	+	Silent	SNP	G	A	A	rs142777403	byFrequency	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:124180459G>A	uc010sag.2	-	0	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGAAATCGACGAAGGACAAGC	0.473000														42			28		0	0	0.000720815	0	0
LGALS9C	654346	broad.mit.edu	37	17	18387210	18387210	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:18387210A>G	uc002gtw.3	+	1	131	c.61A>G	c.(61-63)Atc>Gtc	p.I21V	LGALS9C_uc010vyb.2_Intron	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9C (LGALS9C), mRNA.	21	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						TTCTGGGACTATCCAAGGGGG	0.582000														52			31		0	0	0.00111076	0	0
ZNF812	729648	broad.mit.edu	37	19	9801776	9801776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:9801776C>T	uc021uop.1	-	5	1049	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	ZNF812_uc010xkx.2_Missense_Mutation_p.E31K	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	135	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTGGAAAGTTCCTGTCCAATA	0.398000														27			16		0	0	0.00074312	0	0
NCOR1	9611	broad.mit.edu	37	17	15950304	15950304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:15950304G>A	uc002gpo.3	-	41	6909	c.6640C>T	c.(6640-6642)Cgt>Tgt	p.R2214C	NCOR1_uc002gpn.3_Missense_Mutation_p.R2111C|NCOR1_uc002gpl.3_Missense_Mutation_p.R229C|NCOR1_uc002gpm.3_Missense_Mutation_p.R734C|NCOR1_uc010vwb.2_Missense_Mutation_p.R798C|NCOR1_uc010coy.3_Missense_Mutation_p.R1122C|NCOR1_uc010vwc.2_Missense_Mutation_p.R1024C	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	2214	ID2 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTCAACTTACGAAAAATCTCC	0.408000														11			22		0	0	0.000295444	0	0
DPYSL5	56896	broad.mit.edu	37	2	27150151	27150151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:27150151G>A	uc002rhu.4	+	3	609	c.451G>A	c.(451-453)Gag>Aag	p.E151K	DPYSL5_uc002rhv.4_Missense_Mutation_p.E151K|DPYSL5_uc021vev.1_Missense_Mutation_p.E151K	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	151					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)					ACTGGTGAGGGAGAAGGGTGT	0.542000														10			10		0	0	0.000978159	0	0
MCTP1	79772	broad.mit.edu	37	5	94207063	94207063	+	Missense_Mutation	SNP	C	T	T	rs145448158		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:94207063C>T	uc003kkx.2	-	13	2096	c.2096G>A	c.(2095-2097)cGa>cAa	p.R699Q	MCTP1_uc003kkv.2_Missense_Mutation_p.R478Q|MCTP1_uc003kkw.2_Missense_Mutation_p.R432Q|MCTP1_uc003kkz.2_Missense_Mutation_p.R360Q|MCTP1_uc003kku.2_Missense_Mutation_p.R215Q	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	699	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTCAGCACTTCGATCCCGATC	0.353000														38			28		0	0	0.00178596	0	0
USP34	9736	broad.mit.edu	37	2	61454326	61454326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:61454326C>T	uc002sbe.3	-	61	7493	c.7471G>A	c.(7471-7473)Gaa>Aaa	p.E2491K	USP34_uc002sbf.3_Missense_Mutation_p.E641K	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	2491					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			tcttccccttcttcctctGAT	0.358000														9			7		0	0	8.12818e-05	0	0
ATP8A1	10396	broad.mit.edu	37	4	42445613	42445613	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:42445613G>C	uc003gwr.2	-	32	3324	c.3092C>G	c.(3091-3093)gCc>gGc	p.A1031G	ATP8A1_uc003gwq.2_Missense_Mutation_p.A257G|ATP8A1_uc003gws.2_Missense_Mutation_p.A1016G	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1031					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CATCGGAATGGCAGGCCACAG	0.448000														12			14		0	0	0.000422831	0	0
PTPRT	11122	broad.mit.edu	37	20	41385183	41385183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:41385183G>A	uc002xkg.3	-	5	962	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	PTPRT_uc010ggj.3_Missense_Mutation_p.R260W	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	260	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGACGCTCCGCTGGGCAGTG	0.607000														18			17		0	0	0.00074312	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841569	36841570	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:36841569_36841570GG>AA	uc002xhy.1	-	13	3749_3750	c.3477_3478CC>TT	c.(3475-3480)ttccgg>ttTTgg	p.R1160W	KIAA1755_uc002xhv.1_Missense_Mutation_p.R224W|KIAA1755_uc002xhw.1_Missense_Mutation_p.R215W|KIAA1755_uc002xhx.1_Missense_Mutation_p.R438W	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	1160										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTGCTGCCGGAAGAAGGTGG	0.649000														51			27		0	0	6.4e-05	0	0
ZDHHC21	340481	broad.mit.edu	37	9	14639981	14639981	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:14639981G>A	uc003zlh.2	-	7	1012	c.534C>T	c.(532-534)gcC>gcT	p.A178A	ZDHHC21_uc003zlg.2_Intron	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN	Homo sapiens zinc finger, DHHC-type containing 21 (ZDHHC21), mRNA.	178					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		GTCTCATTATGGCCAATTCAT	0.333000														79			36		0	0	0.00111076	0	0
MXRA5	25878	broad.mit.edu	37	X	3241563	3241563	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:3241563C>T	uc004crg.4	-	4	2320	c.2163G>A	c.(2161-2163)gaG>gaA	p.E721E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	721						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGAGGAACACCTCTTGGTCCT	0.473000														35			28		0	0	0.00106085	0	0
CPXM2	119587	broad.mit.edu	37	10	125521553	125521553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:125521553C>T	uc001lhk.1	-	10	1937	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	538					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGGGTGTGTTCCTGCGTCTTC	0.652000														50			26		0	0	0.00127121	0	0
EPHX4	253152	broad.mit.edu	37	1	92528792	92528792	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:92528792G>A	uc001don.2	+	6	1142	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	346						integral to membrane	hydrolase activity	p.V346V(2)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						CTGACATAGTGAACAAATTGA	0.318000														49			24		0	0	0.000720815	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801484	185801484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:185801484C>T	uc002uph.3	+	3	1955	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	454						intracellular	zinc ion binding	p.I453M(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCATCAATTTCCTATAGCTGT	0.348000														73			39		0	0	0.000953801	0	0
NOTCH2	4853	broad.mit.edu	37	1	120461032	120461032	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:120461032G>T	uc001eik.3	-	31	6223	c.5926C>A	c.(5926-5928)Cat>Aat	p.H1976N		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1976					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.D1975G(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCTACCATGGTCATCCACT	0.532000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					453			10		0.000442599	0.00384628	0.000442599	1	0
PAH	5053	broad.mit.edu	37	12	103240729	103240729	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:103240729C>T	uc001tjq.1	-	9	1386	c.913_splice	c.e9-1	p.E305_splice		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	305					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGGCCAATTTCCTGTAATTGG	0.493000														33			21		0	0	0.000586117	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688664	26688664	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr22:26688664G>A	uc003acb.3	+	1	583	c.387G>A	c.(385-387)agG>agA	p.R129R	SEZ6L_uc003acd.3_Silent_p.R129R|SEZ6L_uc011akd.2_Silent_p.R129R|SEZ6L_uc003ace.3_Silent_p.R129R|SEZ6L_uc011akc.2_Silent_p.R129R|SEZ6L_uc003acc.3_Silent_p.R129R|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	129						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACTCTGCCAGGAAGCAGCTGA	0.652000														16			17		0	0	0.000958276	0	0
GPR116	221395	broad.mit.edu	37	6	46828604	46828604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:46828604C>T	uc003oyo.3	-	15	2516	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	GPR116_uc011dwj.1_Missense_Mutation_p.E298K|GPR116_uc011dwk.1_Missense_Mutation_p.E172K|GPR116_uc003oyp.3_Missense_Mutation_p.E601K|GPR116_uc003oyq.3_Missense_Mutation_p.E743K|GPR116_uc010jzi.1_Missense_Mutation_p.E415K	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	743					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGGAGCATCTCATCCTGAGAG	0.413000														53			18		0	0	0.00188189	0	0
CSMD3	114788	broad.mit.edu	37	8	113966914	113966914	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:113966914G>A	uc003ynu.3	-	8	1579	c.1420_splice	c.e8+1	p.L474_splice	CSMD3_uc003ynt.3_Splice_Site_p.L434_splice|CSMD3_uc011lhx.2_Splice_Site_p.L370_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	474						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						TACACTCACAGATAGAAAACT	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				13			6		0	0	0.00116845	0	0
RYR1	6261	broad.mit.edu	37	19	39075739	39075739	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:39075739G>A	uc002oit.3	+	102	14933	c.14803_splice	c.e102+1	p.G4935_splice	RYR1_uc002oiu.3_Splice_Site_p.G4930_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4935					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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)	CATCATCCAGGGTCAGTGCTG	0.592000														9			10		0	0	0.00136819	0	0
CEP290	80184	broad.mit.edu	37	12	88472896	88472896	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:88472896G>A	uc001tar.3	-	38	5681	c.5337C>T	c.(5335-5337)atC>atT	p.I1779I	CEP290_uc001taq.3_Silent_p.I839I	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	1779					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTCGATCAACGATTTGTTGAA	0.378000														20			12		0	0	0.00185496	0	0
CACNG3	10368	broad.mit.edu	37	16	24372868	24372868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:24372868C>T	uc002dmf.3	+	3	1834	c.632C>T	c.(631-633)tCc>tTc	p.S211F		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	211					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CGAGCCAAATCCCACTCGGAG	0.498000														40			37		0	0	0.000953801	0	0
PSORS1C2	170680	broad.mit.edu	37	6	31105933	31105933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:31105933G>A	uc003nso.4	-	1	530	c.206C>T	c.(205-207)cCc>cTc	p.P69L	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron|PSORS1C1_uc003nsn.2_Intron	NM_014069	NP_054788	Q9UIG4	PS1C2_HUMAN	Homo sapiens psoriasis susceptibility 1 candidate 2 (PSORS1C2), mRNA.	69						extracellular region				NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGGACGACTGGGGCGGGTAGG	0.667000														52			14		0	0	0.000308642	0	0
ZNF334	55713	broad.mit.edu	37	20	45130122	45130122	+	Missense_Mutation	SNP	C	T	T	rs146816699	byFrequency	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:45130122C>T	uc002xsa.3	-	3	2387	c.1925G>A	c.(1924-1926)aGa>aAa	p.R642K	ZNF334_uc002xsb.3_Missense_Mutation_p.R581K|ZNF334_uc002xsd.3_Missense_Mutation_p.R581K|ZNF334_uc002xsc.3_Missense_Mutation_p.R619K|ZNF334_uc010ghl.3_Missense_Mutation_p.R618K			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GTGAATTCTTCTATGGACTCT	0.428000														59			36		0	0	0.00111076	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035825	36035825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:36035825C>T	uc003jjz.2	-	6	1679	c.1547G>A	c.(1546-1548)gGg>gAg	p.G516E	UGT3A2_uc011cos.2_Missense_Mutation_p.G482E|UGT3A2_uc011cot.2_Missense_Mutation_p.G214E	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	516						integral to membrane	glucuronosyltransferase activity	p.R515H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTTCTGGCCCCACGCAGCCA	0.577000														7			13		0	0	0.000308642	0	0
MYO9B	4650	broad.mit.edu	37	19	17295779	17295779	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:17295779A>G	uc010eak.3	+	16	2631	c.2479A>G	c.(2479-2481)Atc>Gtc	p.I827V	MYO9B_uc002nfi.3_Missense_Mutation_p.I827V|MYO9B_uc002nfj.1_Missense_Mutation_p.I827V	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	827	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCACCAAGCATCAGCGCCCA	0.582000														62			38		0	0	0.00195071	0	0
HYDIN	54768	broad.mit.edu	37	16	71163640	71163640	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:71163640T>A	uc002ezr.3	-	8	1281	c.1130A>T	c.(1129-1131)cAt>cTt	p.H377L	HYDIN_uc010cfz.2_Missense_Mutation_p.H122L|HYDIN_uc021tkq.1_Missense_Mutation_p.H377L|HYDIN_uc010vmc.2_Missense_Mutation_p.H394L|HYDIN_uc010vmd.2_Missense_Mutation_p.H404L|HYDIN_uc002ezw.4_Missense_Mutation_p.H394L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	377										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AACAGAAAGATGTTCTCGGAG	0.468000														21			10		0	0	0.00185496	0	0
RYR2	6262	broad.mit.edu	37	1	237774098	237774098	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:237774098G>T	uc001hyl.1	+	35	4840	c.4720G>T	c.(4720-4722)Gag>Tag	p.E1574*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1574	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	p.H1573R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTCAAGAGTGAGCACAAGAA	0.527000														8			5		2.0095e-06	1.76549e-05	8.12818e-05	1	0
SLITRK3	22865	broad.mit.edu	37	3	164908061	164908061	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:164908061G>A	uc003fej.4	-	1	1002	c.558C>T	c.(556-558)ccC>ccT	p.P186P	SLITRK3_uc003fek.3_Silent_p.P186P|SLITRK3_uc021xgy.1_Silent_p.P186P	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	186						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGGAAGCATGGGGATGAGAT	0.383000										HNSCC(40;0.11)				31			23		0	0	0.000375601	0	0
OR52A5	390054	broad.mit.edu	37	11	5153784	5153784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:5153784C>T	uc010qyx.2	-	0	89	c.89G>A	c.(88-90)gGg>gAg	p.G30E		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAAGGAATCCCAATCCAACA	0.398000														24			22		0	0	0.00047179	0	0
CCDC129	223075	broad.mit.edu	37	7	31617863	31617863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:31617863C>T	uc011kae.2	+	7	1075	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S	CCDC129_uc011kad.1_Missense_Mutation_p.P339S|CCDC129_uc003tcj.1_Missense_Mutation_p.P329S|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.P237S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	329										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACCTTATCCTCCTCATGGTCT	0.502000														54			17		0	0	0.00074312	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566133	155566133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:155566133G>A	uc002tyv.1	+	1	916	c.721G>A	c.(721-723)Ggt>Agt	p.G241S	KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Missense_Mutation_p.G241S	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	241					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GACACCTGAGGGTGAGTTCCT	0.443000														53			32		0	0	0.000692331	0	0
GABPB2	126626	broad.mit.edu	37	1	151070438	151070438	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:151070438C>T	uc001ewr.2	+	4	913	c.582C>T	c.(580-582)ctC>ctT	p.L194L	GABPB2_uc010pcp.1_Silent_p.L210L|GABPB2_uc001ewt.2_Silent_p.L93L	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	194					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		TTGTTAACCTCGCAAGCCTTA	0.413000														58			42		0	0	0.000680045	0	0
CCDC88C	440193	broad.mit.edu	37	14	91805692	91805692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:91805692C>T	uc010aty.3	-	7	893	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	CCDC88C_uc010twk.1_Missense_Mutation_p.E211K	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	247					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCTTGTCTTCGCTAGAGAGG	0.652000														9			19		0	0	0.000295444	0	0
CCDC141	285025	broad.mit.edu	37	2	179718295	179718295	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179718295G>A	uc002une.2	-	19	3235	c.3117C>T	c.(3115-3117)tcC>tcT	p.S1039S	CCDC141_uc002unf.1_Silent_p.S518S	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	464							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCACTCTGTGGAATATTTTC	0.403000														46			35		0	0	0.000491102	0	0
COL14A1	7373	broad.mit.edu	37	8	121301973	121301973	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:121301973C>T	uc003yox.3	+	33	4469	c.4204C>T	c.(4204-4206)Cga>Tga	p.R1402*	COL14A1_uc003yoz.3_Nonsense_Mutation_p.R367*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1402	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.R1402Q(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GAAAATGGTTCGATCAAGAGG	0.428000														42			22		0	0	0.000375601	0	0
RAG1	5896	broad.mit.edu	37	11	36597825	36597825	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:36597825C>T	uc021qgb.1	+	0	2971	c.2971C>T	c.(2971-2973)Ctg>Ttg	p.L991L	RAG1_uc001mwt.3_Intron|RAG1_uc001mwu.4_Silent_p.L991L	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	991					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGATGTCCTGAAACACCA	0.453000									Familial Hemophagocytic Lymphohistiocytosis					48			28		0	0	0.000878237	0	0
PLB1	151056	broad.mit.edu	37	2	28843798	28843798	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:28843798G>A	uc002rmb.2	+	48	3524	c.3480G>A	c.(3478-3480)tgG>tgA	p.W1160*	PLB1_uc010ezj.2_Nonsense_Mutation_p.W1149*|PLB1_uc002rme.2_Nonsense_Mutation_p.W125*	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1160	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCAGCACCTGGGAGGGGACAG	0.562000														63			33		0	0	0.00111076	0	0
TTN	7273	broad.mit.edu	37	2	179583192	179583192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179583192G>A	uc021vsy.1	-	81	21134	c.20909C>T	c.(20908-20910)tCt>tTt	p.S6970F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3631F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7897	Ig-like 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATCTCTCAGATTGTGAAAT	0.423000														29			21		0	0	0.000295444	0	0
CASR	846	broad.mit.edu	37	3	121973151	121973151	+	Missense_Mutation	SNP	C	T	T	rs121909262		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:121973151C>T	uc003eew.4	+	1	553	c.115C>T	c.(115-117)Cct>Tct	p.P39S	CASR_uc003eev.4_Missense_Mutation_p.P39S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	39			P -> A (in FHH).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGGGCTCTTTCCTATTCATTT	0.527000														50			34		0	0	0.000814825	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884482	228884482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:228884482C>T	uc002vpq.2	-	6	1135	c.1088G>A	c.(1087-1089)aGa>aAa	p.R363K	SPHKAP_uc002vpp.2_Missense_Mutation_p.R363K|SPHKAP_uc010zlx.1_Missense_Mutation_p.R363K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	363						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAGGTTGCTTCTCTGCTCTGC	0.438000														46			28		0	0	0.000409698	0	0
P2RX3	5024	broad.mit.edu	37	11	57137455	57137455	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:57137455C>T	uc001nju.3	+	11	1363	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	393					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CGGGGGCCTTCTCCATAGGCC	0.612000														9			14		0	0	0.000219431	0	0
CFTR	1080	broad.mit.edu	37	7	117188775	117188775	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:117188775C>T	uc003vjd.3	+	9	1422	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	430	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCCTCTTCTTCAGTAATTTCT	0.378000									Cystic Fibrosis					6			17		0	0	0.000566183	0	0
MTM1	4534	broad.mit.edu	37	X	149814235	149814235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:149814235G>A	uc004fef.4	+	8	834	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.R216Q|MTM1_uc011mxz.2_Missense_Mutation_p.R138Q|MTM1_uc010nte.3_Missense_Mutation_p.R121Q	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	253	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGGAAACGAAATAAAGAT	0.398000														71			33		0	0	0.000491102	0	0
BMPER	168667	broad.mit.edu	37	7	34125516	34125516	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:34125516G>A	uc011kap.2	+	13	1931	c.1557G>A	c.(1555-1557)gtG>gtA	p.V519V		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	519	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.D518H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGTTTGATGTGGATGACTTTG	0.473000														47			60		0	0	0.000781405	0	0
ICK	22858	broad.mit.edu	37	6	52876951	52876951	+	Silent	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:52876951G>T	uc003pbh.2	-	10	1717	c.1227C>A	c.(1225-1227)tcC>tcA	p.S409S	ICK_uc003pbi.2_Silent_p.S409S	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	409					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TTGTTGACCTGGAAATAAGAC	0.458000														45			27		1.16021e-09	1.02496e-08	0.00127121	1	0
SGK223	157285	broad.mit.edu	37	8	8235486	8235486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:8235486G>A	uc003wsh.4	-	1	433	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	145							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAGGTAGAGGGACCAGCAGGC	0.632000														51			41		0	0	0.00170553	0	0
PITPNM1	9600	broad.mit.edu	37	11	67270001	67270001	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:67270001C>T	uc001olx.3	-	1	456	c.267G>A	c.(265-267)tgG>tgA	p.W89*	PITPNM1_uc001oly.3_Nonsense_Mutation_p.W89*|PITPNM1_uc001olz.3_Nonsense_Mutation_p.W89*	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	89					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGTAGGCATTCCAGGATTCCT	0.642000														30			25		0	0	0.000586117	0	0
GOLGA3	2802	broad.mit.edu	37	12	133372444	133372444	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:133372444G>A	uc001ukz.1	-	10	3022	c.2463C>T	c.(2461-2463)tcC>tcT	p.S821S	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.S821S|GOLGA3_uc001ulb.3_Silent_p.S821S	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	821					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TTACCTGGCCGGATTTGATAG	0.413000														47			41		0	0	0.000781405	0	0
KLHL38	340359	broad.mit.edu	37	8	124664570	124664570	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:124664570G>A	uc003yqs.1	-	0	621	c.597C>T	c.(595-597)gcC>gcT	p.A199A		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	199	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AAACCATGAGGGCCTCAAACA	0.567000														41			23		0	0	0.000720815	0	0
KATNAL2	83473	broad.mit.edu	37	18	44580798	44580798	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr18:44580798G>A	uc002lco.3	+	2	299	c.105G>A	c.(103-105)ggG>ggA	p.G35G	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	107	LisH.					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GAAGTAGAGGGAAGACCAGAA	0.398000														52			82		0	0	0.000781405	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834325	101834325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:101834325G>A	uc003knn.3	-	0	396	c.224C>T	c.(223-225)tCc>tTc	p.S75F	SLCO6A1_uc003kno.3_Missense_Mutation_p.S75F|SLCO6A1_uc003knp.3_Missense_Mutation_p.S75F|SLCO6A1_uc003knq.3_Missense_Mutation_p.S75F	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	75						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGGCTTCTTGGAAACTGAGGA	0.507000														66			56		0	0	0.000781405	0	0
DENND1C	79958	broad.mit.edu	37	19	6479052	6479052	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:6479052G>A	uc002mfe.3	-	4	284	c.192C>T	c.(190-192)ccC>ccT	p.P64P	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Silent_p.P20P	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	64	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCTGCACGGCGGGGCTGGGGG	0.637000														60			35		0	0	0.00058488	0	0
TYK2	7297	broad.mit.edu	37	19	10463201	10463201	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:10463201T>C	uc002moc.4	-	22	3605	c.3227A>G	c.(3226-3228)tAt>tGt	p.Y1076C	TYK2_uc010dxe.3_Missense_Mutation_p.Y891C	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	1076	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GTAGAACTTATACTCCTTCAG	0.627000														51			39		0	0	0.00170553	0	0
TNNC1	7134	broad.mit.edu	37	3	52485804	52485804	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:52485804C>T	uc003deb.3	-	3	299	c.273G>A	c.(271-273)ggG>ggA	p.G91G		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	91					cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	p.G91W(1)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CCTCAGATTTCCCTTTGCTGT	0.567000														49			27		0	0	0.000409698	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646720	122646720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:122646720G>A	uc003efz.1	-	7	1071	c.767C>T	c.(766-768)tCa>tTa	p.S256L	SEMA5B_uc011bju.1_Missense_Mutation_p.S198L|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.S256L|SEMA5B_uc010hro.1_Missense_Mutation_p.S198L|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	256	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTCCCGACCTGAGAAGTCGAT	0.607000														43			20		0	0	0.00152264	0	0
SLC39A7	7922	broad.mit.edu	37	6	33169319	33169319	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:33169319G>A	uc003odf.3	+	1	414	c.297G>A	c.(295-297)gaG>gaA	p.E99E	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Silent_p.E99E|SLC39A7_uc011dqv.2_Intron	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	99	His-rich.					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACTCCCATGAGAGCCTCTACC	0.542000														37			66		0	0	0.000781405	0	0
ATP2B3	492	broad.mit.edu	37	X	152815551	152815551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:152815551G>A	uc004fht.1	+	9	1756	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	ATP2B3_uc004fhs.1_Missense_Mutation_p.E544K	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	544					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.T543M(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAATAAGACGGAGTGCGCCCT	0.612000														20			12		0	0	0.000978159	0	0
OR5F1	338674	broad.mit.edu	37	11	55761196	55761196	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:55761196C>T	uc010riv.2	-	0	906	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TAATTACATTCGCTAAAGCCT	0.383000														29			10		0	0	0.000978159	0	0
GH2	2689	broad.mit.edu	37	17	61958244	61958244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:61958244G>A	uc002jcl.1	-	3	406	c.344C>T	c.(343-345)cCc>cTc	p.P115L	GH2_uc002jcn.1_Missense_Mutation_p.P100L|GH2_uc002jco.1_Missense_Mutation_p.P115L|GH2_uc002jcm.1_Missense_Mutation_p.P115L	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	115						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GAGCTGCACGGGCTCCAGCCA	0.632000														9			18		0	0	0.00074312	0	0
TRHDE	29953	broad.mit.edu	37	12	72969158	72969159	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:72969158_72969159GG>AA	uc001sxa.3	+	10	2150_2151	c.2120_2121GG>AA	c.(2119-2121)cgg>cAA	p.R707Q		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	707					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R707W(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAATTAATCCGGAATCATGAGG	0.342000														34			20		0	0	6.4e-05	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461731	50461731	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:50461731C>T	uc010ybh.2	-	7	1551	c.1460G>A	c.(1459-1461)tGg>tAg	p.W487*	SIGLEC11_uc010ybi.2_Intron	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	487					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CCCAAGCCACCAGCGCAGAGA	0.701000														5			9		0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9057805	9057805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:9057805C>T	uc002mkp.3	-	2	29845	c.29641G>A	c.(29641-29643)Gag>Aag	p.E9881K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9883	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						GTGCTAGTCTCCCTGAATCCA	0.478000														49			27		0	0	0.000878237	0	0
DNAH5	1767	broad.mit.edu	37	5	13885252	13885252	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:13885252C>T	uc003jfd.2	-	18	2871	c.2829G>A	c.(2827-2829)agG>agA	p.R943R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	943	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTCTTTTTCCTCGTGACTG	0.413000									Kartagener syndrome					17			21		0	0	0.00047179	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844973	93844973	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:93844973G>A	uc001pep.2	+	19	3550	c.3393G>A	c.(3391-3393)gtG>gtA	p.V1131V	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	1131					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.L1130P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TCACCACGGTGATTCTCTCCC	0.512000														97			68		0	0	0.000781405	0	0
MTUS2	23281	broad.mit.edu	37	13	29600817	29600817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr13:29600817C>T	uc001usl.4	+	0	2070	c.2012C>T	c.(2011-2013)tCg>tTg	p.S671L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	661	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTGGACGCCTCGCTGGTTCCA	0.587000														13			8		0	0	0.000157383	0	0
SHPRH	257218	broad.mit.edu	37	6	146276122	146276122	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:146276122T>C	uc003qlf.3	-	1	736	c.337A>G	c.(337-339)Aaa>Gaa	p.K113E	SHPRH_uc003qle.3_Missense_Mutation_p.K113E|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Intron	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	113					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)		AGAAATGCTTTCCAGGAATTA	0.333000														59			32		0	0	0.00178596	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416568	121416568	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:121416568C>G	uc010hrc.3	-	12	2928	c.2802G>C	c.(2800-2802)aaG>aaC	p.K934N	GOLGB1_uc003eei.4_Missense_Mutation_p.K929N|GOLGB1_uc003eej.4_Missense_Mutation_p.K895N|GOLGB1_uc021xcy.1_Missense_Mutation_p.K854N|GOLGB1_uc011bjm.1_Missense_Mutation_p.K815N|GOLGB1_uc010hrd.1_Missense_Mutation_p.K893N	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	929					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTTAAGAGTCTTAATTTCAA	0.358000														58			35		0	0	0.00128727	0	0
NXF3	56000	broad.mit.edu	37	X	102339344	102339344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:102339344C>T	uc004eju.3	-	2	348	c.277G>A	c.(277-279)Gag>Aag	p.E93K	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.E93K|NXF3_uc011mrx.1_Missense_Mutation_p.E4K	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	93						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGTTTTTGCTCTCTCTCCATG	0.473000														71			43		0	0	0.000589545	0	0
OR2T12	127064	broad.mit.edu	37	1	248458252	248458252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:248458252G>A	uc010pzj.2	-	0	629	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F209L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CAGGATGAGGGAAAAGGGGAC	0.547000														64			11		0	0	0.000219431	0	0
NLRP10	338322	broad.mit.edu	37	11	7984813	7984813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:7984813C>T	uc001mfv.1	-	0	247	c.230G>A	c.(229-231)gGc>gAc	p.G77D		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	77	DAPIN.						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)		GACCTTCAAGCCCTTGAGGAC	0.542000														48			16		0	0	0.000422831	0	0
KLHL38	340359	broad.mit.edu	37	8	124663820	124663820	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:124663820G>A	uc003yqs.1	-	0	1371	c.1347C>T	c.(1345-1347)atC>atT	p.I449I		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	449								p.I449N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CATTTACCTGGATAAGGCGCA	0.532000														71			36		0	0	0.000509022	0	0
TET2	54790	broad.mit.edu	37	4	106157973	106157973	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:106157973G>A	uc011cez.2	+	2	3342	c.2937G>A	c.(2935-2937)caG>caA	p.Q979Q	TET2_uc003hxk.3_Silent_p.Q958Q|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Silent_p.Q958Q|TET2_uc010ilp.2_Silent_p.Q958Q|TET2_uc021xql.1_Silent_p.Q958Q	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	958					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATCTCTTACAGAAGCAAGAAC	0.507000			"""Mis N, F"""		MDS									10			22		0	0	0.00188189	0	0
KRTDAP	388533	broad.mit.edu	37	19	35979739	35979739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:35979739C>T	uc002nzh.3	-	1	180	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	KRTDAP_uc021uso.1_Missense_Mutation_p.E31K	NM_207392	NP_997275	P60985	KTDAP_HUMAN	Homo sapiens keratinocyte differentiation-associated protein (KRTDAP), transcript variant 1, mRNA.	31					cell differentiation	extracellular region				breast(1)|lung(4)|prostate(1)	6	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)			ATGGTGCTTTCTTCCTGGAAA	0.572000														44			26		0	0	0.00178596	0	0
NAP1L4	4676	broad.mit.edu	37	11	2991032	2991032	+	Splice_Site	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:2991032C>G	uc010qxm.2	-	8	818	c.534_splice	c.e8+1	p.Q178_splice	NAP1L4_uc001lxc.3_Splice_Site_p.Q178_splice|NAP1L4_uc010qxn.2_Splice_Site_p.Q178_splice	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	178					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		AGTGTGCTTACCTGGACTAAT	0.413000														220			145		0	0	0.000781405	0	0
CCDC67	159989	broad.mit.edu	37	11	93103287	93103287	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:93103287C>T	uc001pdq.3	+	5	581	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	CCDC67_uc001pdo.1_Nonsense_Mutation_p.Q161*|CCDC67_uc001pdp.3_Nonsense_Mutation_p.Q161*	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	161										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GATATTATATCAGACTCATCT	0.289000														12			7		0	0	0.000442599	0	0
STK24	8428	broad.mit.edu	37	13	99171669	99171669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr13:99171669G>A	uc001vnm.1	-	1	372	c.137C>T	c.(136-138)tCc>tTc	p.S46F	STK24_uc001vnn.1_Missense_Mutation_p.S34F|STK24_uc010tim.1_Missense_Mutation_p.S34F	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	46	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCTCCAAAGGAGCCCTTCCC	0.423000														45			147		0	0	0.000781405	0	0
COL8A1	1295	broad.mit.edu	37	3	99513893	99513893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:99513893C>T	uc003dti.1	+	2	1279	c.1151C>T	c.(1150-1152)cCa>cTa	p.P384L	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.P383L|COL8A1_uc003dth.1_Missense_Mutation_p.P383L	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	383	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATAGGTGCCCCAGGAATAGGG	0.597000														15			12		0	0	0.00136819	0	0
OR52D1	390066	broad.mit.edu	37	11	5510825	5510825	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:5510825G>T	uc010qzg.2	+	0	911	c.889G>T	c.(889-891)Gga>Tga	p.G297*	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTCTCTATGGAGCTAGAAC	0.458000														26			18		1.33834e-09	1.17906e-08	0.000958276	1	0
ZNF292	23036	broad.mit.edu	37	6	87970646	87970646	+	Silent	SNP	A	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:87970646A>T	uc003plm.4	+	7	7340	c.7299A>T	c.(7297-7299)tcA>tcT	p.S2433S		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTTGCAACTCACAAGTAAAGG	0.348000														13			9		0	0	0.000442599	0	0
SLX4	84464	broad.mit.edu	37	16	3640985	3640985	+	Missense_Mutation	SNP	G	T	T	rs147492092	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:3640985G>T	uc002cvp.2	-	11	3281	c.2654C>A	c.(2653-2655)cCg>cAg	p.P885Q		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	885	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCCAGAAACCGGACTGCCACC	0.582000								Direct reversal of damage						36			17		5.3912e-06	4.72358e-05	0.00074312	1	0
C9orf24	84688	broad.mit.edu	37	9	34379725	34379725	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:34379725A>T	uc003zuh.1	-	5	926	c.708T>A	c.(706-708)tgT>tgA	p.C236*	KIAA1161_uc003zue.4_5'Flank|C9orf24_uc003zug.1_Nonsense_Mutation_p.C101*|C9orf24_uc022bgb.1_Missense_Mutation_p.V103E|C9orf24_uc003zuf.1_Missense_Mutation_p.V50E|C9orf24_uc003zui.1_3'UTR	NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	236										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GTAGGGAGGTACACATCTGGA	0.587000											OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			21		0	0	0.00047179	0	0
ANK1	286	broad.mit.edu	37	8	41550168	41550168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:41550168C>T	uc003xok.3	-	30	3940	c.3856G>A	c.(3856-3858)Gag>Aag	p.E1286K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.E602K|ANK1_uc003xoi.3_Missense_Mutation_p.E1286K|ANK1_uc003xoj.3_Missense_Mutation_p.E1286K|ANK1_uc003xol.3_Missense_Mutation_p.E1286K|ANK1_uc003xom.3_Missense_Mutation_p.E1327K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1286			E -> D.		axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTGTTACCTCTATGTCCCTG	0.597000														163			88		0	0	0.000781405	0	0
PCSK7	9159	broad.mit.edu	37	11	117100225	117100225	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:117100225G>A	uc001pqr.3	-	2	537	c.336C>T	c.(334-336)gcC>gcT	p.A112A		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	112				A -> P (in Ref. 1; AAC50417 and 3; AAB03087).	peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCTGCCGGATGGCCTCCACCT	0.652000			T	IGH@	MLCLS									29			26		0	0	0.00127121	0	0
FAT3	120114	broad.mit.edu	37	11	92086518	92086518	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:92086518G>T	uc001pdj.4	+	0	1257	c.1240G>T	c.(1240-1242)Ggt>Tgt	p.G414C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	414	Cadherin 4.				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)				ATTATCTCCTGGTGAGGATGC	0.418000										TCGA Ovarian(4;0.039)				476			11		0.00010058	0.000876443	0.00136819	1	0
DPEP1	1800	broad.mit.edu	37	16	89703940	89703940	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:89703940C>G	uc010cin.3	+	7	1036	c.833C>G	c.(832-834)gCc>gGc	p.A278G	DPEP1_uc002fnr.4_Missense_Mutation_p.A278G|DPEP1_uc002fns.4_Missense_Mutation_p.A278G	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	278					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	ACCAACAAGGCCAACCTGTCC	0.577000														93			4		0	0	0.00024832	0	0
MEP1A	4224	broad.mit.edu	37	6	46800954	46800954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:46800954C>T	uc011dwh.1	+	9	1380	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	MEP1A_uc010jzh.1_Missense_Mutation_p.P430S|MEP1A_uc011dwg.1_Missense_Mutation_p.P152S|MEP1A_uc011dwi.1_Missense_Mutation_p.P330S	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	430	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.R458*(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GACAGAAACCCCCTGCCCCAC	0.517000														45			43		0	0	0.000781405	0	0
COL6A3	1293	broad.mit.edu	37	2	238267684	238267684	+	Silent	SNP	T	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:238267684T>A	uc002vwl.2	-	19	6687	c.6402A>T	c.(6400-6402)ggA>ggT	p.G2134G	COL6A3_uc002vwo.2_Silent_p.G1928G|COL6A3_uc010znj.1_Silent_p.G1527G	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2134	Collagen-like 2.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTACCCTTCTTCCAGGATTCC	0.418000														235			170		0	0	0.000781405	0	0
NFIX	4784	broad.mit.edu	37	19	13192606	13192606	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:13192606G>A	uc010xmx.2	+	7	1268	c.1215G>A	c.(1213-1215)caG>caA	p.Q405Q	NFIX_uc002mwd.3_Silent_p.Q397Q|NFIX_uc002mwe.3_Silent_p.Q389Q|NFIX_uc002mwf.3_Silent_p.Q359Q|NFIX_uc002mwg.2_Silent_p.Q396Q			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	397					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)			ACCACGGGCAGGACTCACTGA	0.637000											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			16		0	0	0.000958276	0	0
PPP4R2	151987	broad.mit.edu	37	3	73114652	73114652	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:73114652C>T	uc003dph.1	+	8	1103	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*	PPP4R2_uc003dpi.1_Nonsense_Mutation_p.Q288*	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 2 (PPP4R2), mRNA.	345	Glu-rich.				RNA splicing|mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GGAAAATAATCAAATGGAGGA	0.373000														91			40		0	0	0.000437636	0	0
NOTCH2	4853	broad.mit.edu	37	1	120548030	120548030	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:120548030G>A	uc001eik.3	-	2	634	c.337C>T	c.(337-339)Cga>Tga	p.R113*	NOTCH2_uc001eil.3_Nonsense_Mutation_p.R113*|NOTCH2_uc021osy.1_Nonsense_Mutation_p.R74*|NOTCH2_uc001eim.4_Nonsense_Mutation_p.R30*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	113	EGF-like 3.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCAGGGTCGAGACACAAAG	0.547000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					645			110		0	0	0.000781405	0	0
JPH3	57338	broad.mit.edu	37	16	87723315	87723315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:87723315G>A	uc002fkd.3	+	3	1603	c.1349G>A	c.(1348-1350)gGg>gAg	p.G450E	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	450					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CTGTCCACCGGGACACCCCTG	0.662000														8			13		0	0	0.00185496	0	0
CHL1	10752	broad.mit.edu	37	3	432815	432815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:432815C>T	uc003bot.3	+	21	3406	c.2764C>T	c.(2764-2766)Cct>Tct	p.P922S	CHL1_uc003bou.3_Missense_Mutation_p.P906S|CHL1_uc003bow.2_Missense_Mutation_p.P906S|CHL1_uc011asi.2_Missense_Mutation_p.P922S	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	906	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.E921D(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGAAAGTGAGCCTTATATATT	0.378000														39			20		0	0	0.000295444	0	0
IL17RD	54756	broad.mit.edu	37	3	57143635	57143635	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:57143635G>A	uc003dil.3	-	4	569	c.480C>T	c.(478-480)ttC>ttT	p.F160F	IL17RD_uc003dik.3_Silent_p.F136F|IL17RD_uc010hna.3_Silent_p.F16F|IL17RD_uc011bex.1_Silent_p.F16F	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	160						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CAACCTTTACGAAATAATCCG	0.413000														46			31		0	0	0.00178596	0	0
TMEM26	219623	broad.mit.edu	37	10	63170087	63170087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:63170087G>A	uc001jlo.2	-	5	1469	c.1100C>T	c.(1099-1101)aCc>aTc	p.T367I	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	367						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TAACTAAGGGGTGTGGTGGGA	0.557000														24			18		0	0	0.000958276	0	0
SLC16A13	201232	broad.mit.edu	37	17	6942182	6942182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:6942182G>A	uc002geh.3	+	2	1363	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	352						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GAGAGCATCGGGGGGCTGCTG	0.577000														36			63		0	0	0.000781405	0	0
COL15A1	1306	broad.mit.edu	37	9	101767302	101767302	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:101767302C>T	uc004azb.1	+	8	1529	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	441	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCTCCATGTCCGCCCAGAGCC	0.642000														8			18		0	0	0.00121646	0	0
SPEF2	79925	broad.mit.edu	37	5	35792539	35792539	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:35792539C>T	uc003jjo.3	+	30	4656	c.4545C>T	c.(4543-4545)acC>acT	p.T1515T	SPEF2_uc003jjp.1_Silent_p.T1001T|SPEF2_uc003jjr.3_Silent_p.T570T	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1515					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCACCTTACCCAACCTGAAG	0.353000														19			26		0	0	0.000720815	0	0
KITLG	4254	broad.mit.edu	37	12	88912503	88912503	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:88912503C>A	uc001tav.3	-	3	529	c.334G>T	c.(334-336)Gtg>Ttg	p.V112L	KITLG_uc009zsn.3_Missense_Mutation_p.V40L|KITLG_uc001taw.3_Missense_Mutation_p.V112L|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	112					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ACGCACTCCACAAGGTCATCC	0.373000									Testicular Cancer, Familial Clustering of					60			25		3.69857e-22	3.32248e-21	0.001512	1	0
LOC100192204	100192204	broad.mit.edu	37	10	15197214	15197214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:15197214G>A	uc010qca.1	-	0	133	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	NMT2_uc001inz.1_Intron|NMT2_uc001ioa.1_Intron|NMT2_uc010qbz.1_Intron					Homo sapiens peptidylprolyl isomerase A (cyclophilin A) pseudogene (LOC100192204), non-coding RNA.																		CTCAGAGCACGAAAGTTTTCT	0.473000														38			26		0	0	0.00178596	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088187	17088187	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:17088187G>A	uc002nfb.3	-	14	1922	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	583						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTGGTTTTCGAAGAAGGTCT	0.612000														49			40		0	0	0.000781405	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765926	171765926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:171765926G>A	uc003mbr.3	-	12	2354	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	728					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTCGGAGGGGCTCTGCAGGA	0.632000														16			30		0	0	0.000491102	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883267	228883267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:228883267G>A	uc002vpq.2	-	6	2350	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F	SPHKAP_uc002vpp.2_Missense_Mutation_p.S768F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S768F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	768						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTGCTGGAGGATTCAGTGGC	0.493000														76			48		0	0	0.000781405	0	0
GPRIN2	9721	broad.mit.edu	37	10	47000166	47000166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:47000166C>T	uc001jec.3	+	2	1421	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F	GPRIN2_uc021ppt.1_Missense_Mutation_p.S429F	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	429										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GACAGCCTGTCTGTGGAGGGC	0.716000														11			4		0	0	0.00116845	0	0
TRRAP	8295	broad.mit.edu	37	7	98559085	98559085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:98559085C>T	uc003upp.3	+	44	6879	c.6670C>T	c.(6670-6672)Cca>Tca	p.P2224S	TRRAP_uc011kis.2_Missense_Mutation_p.P2206S|TRRAP_uc003upr.3_Missense_Mutation_p.P1923S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2224	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCATTTTCCCAACAGAGCC	0.552000														50			46		0	0	0.000781405	0	0
ANK3	288	broad.mit.edu	37	10	61834621	61834621	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:61834621C>T	uc001jky.3	-	36	6356	c.6018G>A	c.(6016-6018)gcG>gcA	p.A2006A	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2006					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGACTGGCTCGCAGCAGCTT	0.448000														60			28		0	0	0.00127121	0	0
NLRP5	126206	broad.mit.edu	37	19	56539552	56539552	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:56539552C>T	uc002qmj.3	+	6	1953	c.1953C>T	c.(1951-1953)gtC>gtT	p.V651V	NLRP5_uc002qmi.3_Silent_p.V632V	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	651						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CACTGGAGGTCCTGCTGGGCT	0.582000														8			27		0	0	0.00127121	0	0
EPHA5	2044	broad.mit.edu	37	4	66535317	66535317	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:66535317G>A	uc003hcy.3	-	0	337	c.144C>T	c.(142-144)gcC>gcT	p.A48A	EPHA5_uc003hcx.3_5'Flank|EPHA5_uc003hcz.3_Silent_p.A48A|EPHA5_uc011cah.2_Silent_p.A48A|EPHA5_uc011cai.2_Silent_p.A48A|EPHA5_uc003hda.2_Silent_p.A48A|LOC100144602_uc003hdb.3_5'Flank	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	48					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCGGAGTGCGGCGCACAGGA	0.731000										TSP Lung(17;0.13)				8			3		0	0	6.4e-05	0	0
NPY1R	4886	broad.mit.edu	37	4	164247100	164247100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:164247100G>A	uc003iqm.2	-	1	1072	c.607C>T	c.(607-609)Cca>Tca	p.P203S	NPY1R_uc021xtv.1_Missense_Mutation_p.P203S|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	203					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGTCCGATGGAAATTGATCA	0.383000														8			19		0	0	0.000958276	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032410	142032410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:142032410C>T	uc011krs.1	+	1	263	c.230C>T	c.(229-231)tCg>tTg	p.S77L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		GCAGACAAATCGGGGCTTCCC	0.542000														9			6		0	0	8.12818e-05	0	0
NDOR1	27158	broad.mit.edu	37	9	140110212	140110213	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:140110212_140110213CC>TT	uc004clx.3	+	10	1501_1502	c.1390_1391CC>TT	c.(1390-1392)ccc>TTc	p.P464F	NDOR1_uc004clw.3_Missense_Mutation_p.P464F|NDOR1_uc011mes.2_Missense_Mutation_p.P457F|NDOR1_uc004cly.3_Missense_Mutation_p.P430F	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	464					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGGGTAGCCCCCTTCCGAGCA	0.678000														8			18		0	0	6.4e-05	0	0
OR2A5	393046	broad.mit.edu	37	7	143748423	143748423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:143748423C>T	uc011ktw.2	+	0	929	c.929C>T	c.(928-930)tCa>tTa	p.S310L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					AAACAGAGATCAAAGTGAGGG	0.463000														28			28		0	0	0.00178596	0	0
OR10S1	219873	broad.mit.edu	37	11	123848156	123848156	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:123848156G>A	uc001pzm.1	-	0	243	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGCATCCAGGAAGGAGAGGT	0.562000														9			8		0	0	0.000157383	0	0
LAMA5	3911	broad.mit.edu	37	20	60899214	60899214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:60899214G>A	uc002ycq.3	-	42	5757	c.5690C>T	c.(5689-5691)gCt>gTt	p.A1897V	LAMA5_uc021wfw.1_Missense_Mutation_p.A1897V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1897	Laminin EGF-like 17.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACGAAGCCAGCCTGGCAGCG	0.652000														21			17		0	0	0.000295444	0	0
LUZP1	7798	broad.mit.edu	37	1	23419931	23419931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:23419931G>A	uc001bgk.2	-	3	1374	c.824C>T	c.(823-825)tCa>tTa	p.S275L	LUZP1_uc010odv.1_Missense_Mutation_p.S275L|LUZP1_uc001bgl.3_Missense_Mutation_p.S275L|LUZP1_uc001bgm.1_Missense_Mutation_p.S275L	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	275						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCATTTTCTGATTTGTTTCT	0.398000														72			93		0	0	0.000781405	0	0
RBM10	8241	broad.mit.edu	37	X	47041239	47041239	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:47041239C>G	uc004dhi.3	+	14	2091	c.1862C>G	c.(1861-1863)aCt>aGt	p.T621S	RBM10_uc004dhf.3_Missense_Mutation_p.T556S|RBM10_uc004dhh.3_Missense_Mutation_p.T555S|RBM10_uc010nhq.3_Missense_Mutation_p.T479S|RBM10_uc004dhg.3_Missense_Mutation_p.T478S	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	556					RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACCAGCCCCACTGCCCAGGAA	0.567000														33			3		0	0	6.4e-05	0	0
HEPHL1	341208	broad.mit.edu	37	11	93797623	93797623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:93797623C>T	uc001pep.2	+	3	912	c.755C>T	c.(754-756)cCt>cTt	p.P252L		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	252	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGCACCAACCCTGATTCAGTT	0.398000														33			14		0	0	0.00185496	0	0
OR4E2	26686	broad.mit.edu	37	14	22133660	22133660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:22133660C>T	uc010tmd.2	+	0	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GGCGTATGATCGTTACGTGGC	0.468000														23			75		0	0	0.000781405	0	0
DDX26B	203522	broad.mit.edu	37	X	134690140	134690140	+	Silent	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:134690140T>C	uc004eyw.4	+	8	1470	c.1107T>C	c.(1105-1107)ttT>ttC	p.F369F		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	369										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GATATCCATTTGGTTATTTAA	0.333000														71			52		0	0	0.000781405	0	0
CEL	1056	broad.mit.edu	37	9	135940600	135940600	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:135940600A>G	uc010naa.1	+	3	539	c.523A>G	c.(523-525)Agc>Ggc	p.S175G		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	172					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGGGTTCCTCAGCACTGGGGA	0.622000														51			74		0	0	0.000781405	0	0
MXRA5	25878	broad.mit.edu	37	X	3240932	3240932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:3240932C>T	uc004crg.4	-	4	2951	c.2794G>A	c.(2794-2796)Gaa>Aaa	p.E932K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	932						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGGGCTTTTCATAGACTGTG	0.507000														52			24		0	0	0.000720815	0	0
ITGA11	22801	broad.mit.edu	37	15	68641186	68641186	+	Silent	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr15:68641186A>G	uc010bib.3	-	9	1200	c.1113T>C	c.(1111-1113)ttT>ttC	p.F371F	ITGA11_uc002ari.3_Silent_p.F371F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	371					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CGTGCGAGGAAAAGCCCGTCT	0.567000														2			9		0	0	0.000673444	0	0
RYR3	6263	broad.mit.edu	37	15	34080582	34080582	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr15:34080582C>T	uc001zhi.3	+	66	9823	c.9753C>T	c.(9751-9753)atC>atT	p.I3251I	RYR3_uc010bar.3_Silent_p.I3251I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3251					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACTCCTCATCCTGGACGAGT	0.562000														51			41		0	0	0.00195071	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190895	42190896	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:42190895_42190896GG>AA	uc002ori.1	-	1	323_324	c.321_322CC>TT	c.(319-324)accctg>acTTtg	p.107_108TL>TL	CEACAM7_uc010ehx.2_Silent_p.107_108TL>TL|CEACAM7_uc010ehy.1_Silent_p.107_108TL>TL	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	107	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGGATCAGCAGGGTTCCATTGG	0.416000														204			59		0	0	6.4e-05	0	0
CEP250	11190	broad.mit.edu	37	20	34053976	34053976	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:34053976C>G	uc021wco.1	+	6	1086	c.439C>G	c.(439-441)Cgg>Ggg	p.R147G	CEP250_uc010zve.2_5'UTR|CEP250_uc021wcn.1_Missense_Mutation_p.R147G|CEP250_uc010gfe.1_Non-coding_Transcript|CEP250_uc010zvd.2_Non-coding_Transcript|CEP250_uc002xco.3_5'Flank	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	147					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGACTGGAGCCGGGCCCGGGA	0.537000														8			6		0	0	0.00116845	0	0
FAM123B	139285	broad.mit.edu	37	X	63411267	63411267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:63411267G>A	uc022byb.1	-	0	1900	c.1900C>T	c.(1900-1902)Cgt>Tgt	p.R634C	FAM123B_uc004dvo.3_Missense_Mutation_p.R634C	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	634					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						TCTCTACAACGAACCTCTCGG	0.612000														23			16		0	0	0.000958276	0	0
SSR1	6745	broad.mit.edu	37	6	7301720	7301720	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:7301720G>A	uc003mxf.4	-	3	554	c.366C>T	c.(364-366)gcC>gcT	p.A122A		NM_003144	NP_003135	P43307	SSRA_HUMAN	Homo sapiens signal sequence receptor, alpha (SSR1), mRNA.	122					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					AACGGAATGAGGCATCTAAGG	0.403000														86			36		0	0	0.000953801	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67221198	67221198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:67221198G>A	uc002erx.1	-	4	1211	c.970C>T	c.(970-972)Ctt>Ttt	p.L324F	EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Intron|EXOC3L1_uc010vje.1_Missense_Mutation_p.L263F|EXOC3L1_uc002ery.1_Missense_Mutation_p.L268F	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	324	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGCCCTGCAAGGAGGTTCTGC	0.627000														22			14		0	0	0.000219431	0	0
WIPF2	147179	broad.mit.edu	37	17	38421357	38421357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:38421357G>A	uc002hug.1	+	4	1169	c.929G>A	c.(928-930)aGg>aAg	p.R310K	WIPF2_uc002huh.1_Missense_Mutation_p.R160K|WIPF2_uc010cww.1_Missense_Mutation_p.R160K|WIPF2_uc002hui.1_Missense_Mutation_p.R310K|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.R310K	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	310						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CTGAGTAATAGGCCACCTCCC	0.552000										HNSCC(43;0.11)				17			12		0	0	0.00185496	0	0
CTDP1	9150	broad.mit.edu	37	18	77475254	77475254	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr18:77475254C>T	uc002lnh.2	+	7	1941	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V	CTDP1_uc002lni.2_Silent_p.V598V|CTDP1_uc010drd.2_Silent_p.V598V|CTDP1_uc021ult.1_Silent_p.V479V	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	598					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	p.L597L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGATCCTGGTCCGTGTACACA	0.587000														3			4		0	0	0.000602214	0	0
GLRA3	8001	broad.mit.edu	37	4	175598335	175598335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:175598335G>A	uc003ity.1	-	6	1324	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_uc003itz.1_Missense_Mutation_p.S274L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	274					synaptic transmission	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			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GATCCAGAATGAAACCCAGGA	0.478000														12			15		0	0	0.000566183	0	0
SLC25A12	8604	broad.mit.edu	37	2	172666182	172666182	+	Silent	SNP	A	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:172666182A>C	uc002uhh.2	-	12	1328	c.1239T>G	c.(1237-1239)gtT>gtG	p.V413V	SLC25A12_uc010fqh.2_Silent_p.V306V	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	413					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ATTTGTCCCGAACAAAATCAT	0.393000														92			43		0	0	0.000680045	0	0
DISP1	84976	broad.mit.edu	37	1	223178735	223178735	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:223178735C>T	uc001hnu.2	+	9	4322	c.3996C>T	c.(3994-3996)atC>atT	p.I1332I		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1332					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCACGCACATCCACCACTGTC	0.567000														191			162		0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	C	C	rs121913377		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:140453134T>C	uc003vwc.4	-	14	1862	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(25751)|p.V600?(377)|p.V600K(363)|p.K601E(117)|p.V600R(55)|p.V600_K601>E(30)|p.V600L(28)|p.V600D(24)|p.V600M(22)|p.V600A(12)|p.K601N(12)|p.V600G(11)|p.T599_V600insT(7)|p.K601del(5)|p.T599_R603>I(4)|p.K601Q(3)|p.T599_V600insTT(3)|p.V600Q(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.K601R(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)|p.T599_V600insV(1)|p.K601I(1)|p.V600>DLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCT	0.368000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					46			56		0	0	0.000781405	0	0
C11orf82	220042	broad.mit.edu	37	11	82644950	82644950	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:82644950A>G	uc001ozt.3	+	5	2814	c.2570A>G	c.(2569-2571)cAt>cGt	p.H857R	C11orf82_uc010rsr.2_Missense_Mutation_p.H556R|C11orf82_uc010rss.2_Missense_Mutation_p.H556R|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	857					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GCTGAGTGCCATGAAACTGAT	0.408000														30			19		0	0	0.00188189	0	0
CPPED1	55313	broad.mit.edu	37	16	12798735	12798735	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:12798735C>G	uc002dca.4	-	2	572	c.461G>C	c.(460-462)tGg>tCg	p.W154S	CPPED1_uc002dcb.4_Intron	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	154							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GCCCCCGACCCAGAAGCTGAA	0.612000														29			19		0	0	0.000958276	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94654865	94654865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:94654865C>T	uc001dqj.4	-	13	1852	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.G61R	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	495					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGGCAGGTCCAAATCCTGAA	0.348000														32			13		0	0	0.000219431	0	0
IL3RA	3563	broad.mit.edu	37	X	1460723	1460723	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:1460723G>A	uc004cps.3	+	2	413	c.64_splice	c.e2+1	p.D22_splice	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Splice_Site_p.G22_splice	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	22						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACGAAGGAAGGTAAGAACTGG	0.582000														84			44		0	0	0.000781405	0	0
DNAH17	8632	broad.mit.edu	37	17	76455961	76455961	+	Silent	SNP	C	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:76455961C>A	uc010dhp.2	-	59	9683	c.9558G>T	c.(9556-9558)gcG>gcT	p.A3186A	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											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)			TGATCTTGGCCGCCTTCCAGC	0.597000														12			26		3.73148e-12	3.30561e-11	0.00127121	1	0
TMEM8C	389827	broad.mit.edu	37	9	136384008	136384008	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:136384008G>A	uc011mdk.2	-	2	489	c.387C>T	c.(385-387)atC>atT	p.I129I		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	Homo sapiens transmembrane protein 8C (TMEM8C), mRNA.	129						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						ACTTTGCCGCGATGATGAGGA	0.617000														7			19		0	0	0.00121646	0	0
SLC6A13	6540	broad.mit.edu	37	12	333178	333178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:333178C>T	uc001qic.2	-	10	1381	c.1291G>A	c.(1291-1293)Ggg>Agg	p.G431R	SLC6A13_uc009zdj.2_Missense_Mutation_p.G421R|SLC6A13_uc010sdl.2_Missense_Mutation_p.G339R	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	431					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ATGATCAGCCCCACAAGGAAG	0.592000														29			11		0	0	0.00136819	0	0
PPL	5493	broad.mit.edu	37	16	4935885	4935885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:4935885C>T	uc002cyd.1	-	21	2861	c.2771G>A	c.(2770-2772)aGg>aAg	p.R924K		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	924					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCCCTGATTCCTCAAGGTCCA	0.602000														60			45		0	0	0.000781405	0	0
CHD9	80205	broad.mit.edu	37	16	53190369	53190369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:53190369C>T	uc002ehb.3	+	0	532	c.368C>T	c.(367-369)cCa>cTa	p.P123L	CHD9_uc002egy.3_Missense_Mutation_p.P123L|CHD9_uc002egz.1_Missense_Mutation_p.P123L|CHD9_uc002ehc.3_Missense_Mutation_p.P123L	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	123					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATGGCAGTCCAATGTGGGGC	0.408000														125			70		0	0	0.000781405	0	0
CUL5	8065	broad.mit.edu	37	11	107959385	107959385	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:107959385T>C	uc001pjv.3	+	12	1978	c.1311_splice	c.e12+1	p.V437_splice	CUL5_uc001pju.3_Splice_Site	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	437					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTTAAAGAAGTGGTACATGAA	0.313000														25			13		0	0	0.00136819	0	0
C1orf65	164127	broad.mit.edu	37	1	223568218	223568218	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:223568218G>A	uc001hoa.2	+	0	1504	c.1401G>A	c.(1399-1401)agG>agA	p.R467R		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	467										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGGGCCTGAGGAAGGAGCGGC	0.617000														28			24		0	0	0.000375601	0	0
DPH1	1801	broad.mit.edu	37	17	1943613	1943613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:1943613C>T	uc010vqs.2	+	6	902	c.896C>T	c.(895-897)tCc>tTc	p.S299F	DPH1_uc002fts.3_Missense_Mutation_p.S289F|DPH1_uc002ftt.3_Missense_Mutation_p.S273F|DPH1_uc010cjx.3_Missense_Mutation_p.S149F|DPH1_uc002ftv.3_Missense_Mutation_p.S45F|DPH1_uc002ftw.3_Missense_Mutation_p.S17F|OVCA2_uc002ftx.3_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	289					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TCAGCTAAGTCCTGGGGCCTT	0.577000														21			21		0	0	0.00121646	0	0
SPEG	10290	broad.mit.edu	37	2	220354210	220354210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:220354210C>T	uc010fwg.3	+	35	8470	c.8470C>T	c.(8470-8472)Ccc>Tcc	p.P2824S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2824	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCTCATCTCCCCCCACACC	0.692000														19			18		0	0	0.000958276	0	0
NDST4	64579	broad.mit.edu	37	4	115754787	115754787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:115754787G>A	uc003ibu.3	-	11	3050	c.2371C>T	c.(2371-2373)Cgt>Tgt	p.R791C	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	791	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.R791P(1)		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)		TAATTATAACGAGGTGTAACT	0.378000														11			14		0	0	0.000308642	0	0
ESRP1	54845	broad.mit.edu	37	8	95683873	95683873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:95683873G>A	uc003ygq.4	+	10	1609	c.1426G>A	c.(1426-1428)Ggg>Agg	p.G476R	ESRP1_uc003ygr.4_Missense_Mutation_p.G476R|ESRP1_uc003ygs.4_Missense_Mutation_p.G476R|ESRP1_uc003ygt.4_Missense_Mutation_p.G476R|ESRP1_uc003ygu.4_Missense_Mutation_p.G476R|ESRP1_uc003ygv.3_Missense_Mutation_p.G316R|ESRP1_uc003ygw.3_Missense_Mutation_p.G316R	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	476	RRM 3.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCGTACTCATGGGGTTCACAT	0.398000														223			152		0	0	0.000781405	0	0
SEMA3A	10371	broad.mit.edu	37	7	83689827	83689827	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:83689827C>T	uc003uhz.3	-	4	816	c.501G>A	c.(499-501)ggG>ggA	p.G167G		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	167	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATGGACTCTTCCCACGGCCGT	0.348000														95			126		0	0	0.000781405	0	0
OR2W3	343171	broad.mit.edu	37	1	248059344	248059344	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:248059344G>A	uc010pzb.2	+	0	456	c.456G>A	c.(454-456)ggG>ggA	p.G152G	OR2W3_uc001idp.1_Silent_p.G152G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	152					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)			GGGGCTGTGGGGTGGCCAACT	0.632000														35			7		0	0	8.12818e-05	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77328904	77328904	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:77328904G>A	uc002ffc.4	-	18	3341	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L	ADAMTS18_uc010chc.1_Silent_p.L562L	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	974	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCACTGGACAGAGAGAATGCA	0.552000														25			20		0	0	0.00152264	0	0
MYH4	4622	broad.mit.edu	37	17	10358527	10358527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:10358527C>T	uc002gmn.3	-	19	2371	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	754	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						TGGTCAATTTCAATAGACCCT	0.393000														18			27		0	0	0.000878237	0	0
CYLC2	1539	broad.mit.edu	37	9	105767302	105767302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:105767302C>T	uc004bbs.2	+	4	459	c.389C>T	c.(388-390)tCg>tTg	p.S130L		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	130	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ACAACAGATTCGGAATCAGAA	0.318000														6			13		0	0	0.00136819	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237184	140237184	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:140237184C>G	uc003lhx.2	+	0	1551	c.1551C>G	c.(1549-1551)taC>taG	p.Y517*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Nonsense_Mutation_p.Y517*|PCDHAC2_uc011dad.2_Nonsense_Mutation_p.Y517*	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	532	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGGTGTACGCGCTGCAGC	0.682000														37			34		0	0	0.000953801	0	0
NRK	203447	broad.mit.edu	37	X	105132293	105132293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:105132293G>A	uc004emd.3	+	4	562	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	87	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATAGGATGAGGAAGAGGATCT	0.408000										HNSCC(51;0.14)				8			4		0	0	0.00024832	0	0
MANBA	4126	broad.mit.edu	37	4	103556010	103556010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:103556010G>A	uc003hwg.3	-	15	2450	c.2350C>T	c.(2350-2352)Ccg>Tcg	p.P784S	MANBA_uc011ces.2_Missense_Mutation_p.P727S	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	784					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TAGTTGGTCGGGCTCAGGAGT	0.557000														8			15		0	0	0.00074312	0	0
MUT	4594	broad.mit.edu	37	6	49416546	49416546	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:49416546T>G	uc003ozg.4	-	6	1692	c.1427A>C	c.(1426-1428)cAa>cCa	p.Q476P		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	476					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTCTAGCTTGTCTTCGGGC	0.338000														77			71		0	0	0.000781405	0	0
GCOM1	145781	broad.mit.edu	37	15	57913876	57913876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr15:57913876G>A	uc002aei.3	+	3	520	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	GCOM1_uc002aej.3_Missense_Mutation_p.R130Q|GCOM1_uc002aek.3_Intron|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Missense_Mutation_p.R130Q|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R130Q	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	130					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGAAGATTCGACAGCTCACC	0.468000														90			48		0	0	0.000781405	0	0
ZBTB37	84614	broad.mit.edu	37	1	173839909	173839909	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:173839909G>A	uc009wwp.1	+	2	822	c.546G>A	c.(544-546)ctG>ctA	p.L182L	GAS5_uc001gjj.3_5'Flank|GAS5_uc001gjk.3_5'Flank|ZBTB37_uc001gjp.1_Silent_p.L182L|ZBTB37_uc001gjq.4_Silent_p.L182L|ZBTB37_uc001gjr.2_Silent_p.L182L	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	Homo sapiens zinc finger and BTB domain containing 37 (ZBTB37), transcript variant 1, mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GTGCTGTGCTGGATATCAGAG	0.532000														42			40		0	0	0.00170553	0	0
ABCG8	64241	broad.mit.edu	37	2	44102292	44102292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:44102292G>A	uc002rtq.3	+	10	1586	c.1496G>A	c.(1495-1497)gGg>gAg	p.G499E	ABCG8_uc010yoa.2_Missense_Mutation_p.G498E	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	499	ABC transmembrane type-2.				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			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGATCCTCGGGGAGCTTCCG	0.542000														161			112		0	0	0.000781405	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800808	93800808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:93800808C>T	uc001pep.2	+	4	1112	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	AF086184_uc001pen.1_Non-coding_Transcript	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	319	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGAGGGCATCGGACTGATGT	0.473000														93			58		0	0	0.000781405	0	0
CPAMD8	27151	broad.mit.edu	37	19	17049249	17049250	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:17049249_17049250CC>TT	uc002nfb.3	-	22	2973_2974	c.2941_2942GG>AA	c.(2941-2943)gga>AAa	p.G981K		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	934						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCGGGGGACTCCTTCCGCCTGA	0.599000														7			3		0	0	6.4e-05	0	0
PDZD4	57595	broad.mit.edu	37	X	153070562	153070563	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:153070562_153070563GG>AA	uc004fja.1	-	6	1019_1020	c.769_770CC>TT	c.(769-771)cct>TTt	p.P257F	PDZD4_uc004fiy.1_Missense_Mutation_p.P176F|PDZD4_uc004fiz.1_Missense_Mutation_p.P251F|PDZD4_uc004fix.2_Missense_Mutation_p.P155F|PDZD4_uc011mze.1_Missense_Mutation_p.P142F|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	251						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTGGGCAGGGGGTGATTTC	0.604000														36			42		0	0	6.4e-05	0	0
MLL2	8085	broad.mit.edu	37	12	49421020	49421021	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:49421020_49421021GG>AA	uc001rta.4	-	47	14728_14729	c.14728_14729CC>TT	c.(14728-14730)cct>TTt	p.P4910F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4910	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R4909L(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TTCTTCAGGAGGTGGGGCCGAG	0.629000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				73			50		0	0	6.4e-05	0	0
VWA7	80737	broad.mit.edu	37	6	31741162	31741163	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:31741162_31741163CC>AA	uc011dog.2	-	5	1011_1012	c.773_774GG>TT	c.(772-774)agg>aTT	p.R258I	VWA7_uc003nxd.2_Intron|VWA7_uc011doh.1_Intron	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	258						extracellular region											TGATGCCTCCCCTCGGTGGCTG	0.604000														472			12		0	0	6.4e-05	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182218	5182218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:5182218C>T	uc003jdl.3	+	3	701	c.563C>T	c.(562-564)tCa>tTa	p.S188L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.S188L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.S188L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	188					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCACACCTCTCATGGAAACTC	0.502000														19			20		0	0	0.00152264	0	0
ATP7A	538	broad.mit.edu	37	X	77245141	77245141	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:77245141G>A	uc004ecx.4	+	3	1183	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	ATP7A_uc004ecw.2_Silent_p.G341G	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	341	HMA 3.				ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TATCACCGGGGCTATATAGAG	0.428000														137			92		0	0	0.000781405	0	0
SCAF11	9169	broad.mit.edu	37	12	46321226	46321226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:46321226G>A	uc001rox.3	-	10	2545	c.2258C>T	c.(2257-2259)tCt>tTt	p.S753F	SCAF11_uc001row.3_Missense_Mutation_p.S438F|SCAF11_uc001roy.1_Missense_Mutation_p.S827F	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	753					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ATTATTTTCAGAACAGTGTGT	0.353000														54			35		0	0	0.000814825	0	0
PTPN23	25930	broad.mit.edu	37	3	47449887	47449887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:47449887G>A	uc003crf.1	+	14	1333	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T	PTPN23_uc011baw.1_Missense_Mutation_p.A378T|PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Missense_Mutation_p.A283T	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	413					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAACCTTGATGCCTACAGCCA	0.587000														26			22		0	0	0.000375601	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273371	145273371	+	Silent	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:145273371T>C	uc001emn.4	+	2	595	c.225T>C	c.(223-225)ccT>ccC	p.P75P	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Silent_p.P75P|NOTCH2NL_uc001emo.2_Silent_p.P75P|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	75	EGF-like 3.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.R74*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGTCTCGACCTTGCCTGAATG	0.547000														891			17		0	0	0.000781405	0	0
COL9A1	1297	broad.mit.edu	37	6	70944568	70944568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:70944568C>T	uc003pfg.4	-	33	2347	c.2188G>A	c.(2188-2190)Gga>Aga	p.G730R	COL9A1_uc003pfe.4_Missense_Mutation_p.G279R|COL9A1_uc003pff.4_Missense_Mutation_p.G487R	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	730	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGTGGTCCTCTTGGTCCT	0.627000														16			11		0	0	0.00136819	0	0
ZNF142	7701	broad.mit.edu	37	2	219507273	219507273	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:219507273C>G	uc002vin.3	-	7	4402	c.3966G>C	c.(3964-3966)gaG>gaC	p.E1322D	ZNF142_uc002vil.3_Missense_Mutation_p.E1283D|ZNF142_uc010fvt.3_Missense_Mutation_p.E1159D|ZNF142_uc002vim.3_Missense_Mutation_p.E1159D	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTCAGTGGTCTCTGCAGGAG	0.637000														29			16		0	0	0.00074312	0	0
EBF3	253738	broad.mit.edu	37	10	131671784	131671784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:131671784G>A	uc021qav.1	-	7	772	c.671C>T	c.(670-672)tCc>tTc	p.S224F	EBF3_uc001lki.2_Missense_Mutation_p.S238F	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	238					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.G223G(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCCGTGTTTGGAATTGTTGTG	0.498000														31			22		0	0	0.00152264	0	0
ANK2	287	broad.mit.edu	37	4	114288885	114288885	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:114288885G>A	uc003ibe.4	+	41	11296	c.11196G>A	c.(11194-11196)gaG>gaA	p.E3732E	ANK2_uc003ibd.4_Silent_p.E1638E|ANK2_uc003ibf.4_Silent_p.E1647E|ANK2_uc011cgc.2_Silent_p.E823E|ANK2_uc003ibg.4_Silent_p.E631E|ANK2_uc003ibh.4_Silent_p.E321E	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3699					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAAAACTGAGGGGGACAGCT	0.478000														23			39		0	0	0.00148497	0	0
ZNF331	55422	broad.mit.edu	37	19	54080023	54080023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:54080023G>A	uc002qbx.1	+	6	1643	c.209G>A	c.(208-210)aGg>aAg	p.R70K	ZNF331_uc002qby.1_Missense_Mutation_p.R70K|ZNF331_uc002qbz.1_Missense_Mutation_p.R70K|ZNF331_uc010eqr.1_Missense_Mutation_p.R70K|ZNF331_uc002qca.1_Missense_Mutation_p.R70K|ZNF331_uc021uzg.1_Missense_Mutation_p.R70K|ZNF331_uc021uzh.1_Missense_Mutation_p.R70K|ZNF331_uc002qcb.1_Missense_Mutation_p.R70K|ZNF331_uc002qcc.1_Missense_Mutation_p.R70K|ZNF331_uc002qcd.1_Missense_Mutation_p.R70K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GCTTCCAAAAGGAATTCAGAT	0.388000			T	?	follicular thyroid adenoma									18			22		0	0	0.00188189	0	0
SLC4A7	9497	broad.mit.edu	37	3	27433266	27433266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:27433266G>A	uc011aww.2	-	20	3372	c.3151C>T	c.(3151-3153)Ctt>Ttt	p.L1051F	SLC4A7_uc011awx.2_Missense_Mutation_p.L1038F|SLC4A7_uc021wun.1_Missense_Mutation_p.L927F|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.L1034F|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.L923F|SLC4A7_uc011axb.2_Missense_Mutation_p.L1038F|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.L923F|SLC4A7_uc010hfl.3_Missense_Mutation_p.L592F|SLC4A7_uc003cdv.3_Missense_Mutation_p.L1042F|SLC4A7_uc003cdw.3_Missense_Mutation_p.L918F	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	1042						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CCCATATAAAGGAAAACACCA	0.284000														19			11		0	0	0.00185496	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672661	141672661	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:141672661T>G	uc003vwx.1	-	0	913	c.829A>C	c.(829-831)Ata>Cta	p.I277L		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	277					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					ATCACCCCTATTTTGTCGCGC	0.498000														34			41		0	0	0.000589545	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731167	185731167	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:185731167C>T	uc002uph.3	+	1	777	c.183C>T	c.(181-183)ctC>ctT	p.L61L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	61						intracellular	zinc ion binding	p.E60*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACTGTGAACTCTGTGACAAGC	0.368000														31			15		0	0	0.000308642	0	0
FBXO7	25793	broad.mit.edu	37	22	32887122	32887122	+	Silent	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr22:32887122C>G	uc003amq.3	+	5	1204	c.921C>G	c.(919-921)ctC>ctG	p.L307L	FBXO7_uc003amp.1_3'UTR|FBXO7_uc003amt.3_Silent_p.L228L|FBXO7_uc003amu.3_Silent_p.L193L|FBXO7_uc003amv.3_5'Flank	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	307					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCTCGCCTCTTTAAAGACC	0.333000														99			50		0	0	0.000781405	0	0
TRBV19	28568	broad.mit.edu	37	7	142326601	142326601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:142326601C>T	uc003vzo.2	+	0	226	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGTGTGGTCCTTTGTCTCCT	0.532000														55			20		0	0	0.00047179	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606092	21606092	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:21606092T>G	uc003cce.3	-	2	658	c.250A>C	c.(250-252)Att>Ctt	p.I84L	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	84						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AACTGGCAAATGTTGCATGAT	0.338000														34			28		0	0	0.001512	0	0
TYRP1	7306	broad.mit.edu	37	9	12695549	12695549	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:12695549A>C	uc003zkv.4	+	2	598	c.420A>C	c.(418-420)gaA>gaC	p.E140D		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	140					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTAAAGAAGAAAAGAACCACT	0.448000									Oculocutaneous Albinism					34			25		0	0	0.000878237	0	0
SLC22A18	5002	broad.mit.edu	37	11	2943376	2943376	+	Silent	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:2943376G>T	uc001lwx.3	+	8	1127	c.909G>T	c.(907-909)tcG>tcT	p.S303S	SLC22A18_uc001lwy.3_Silent_p.S303S	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	303					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCCACTTCTCGGAGGAGGTGC	0.667000														241			8		0.000978159	0.00843168	0.000978159	1	0
GPR98	84059	broad.mit.edu	37	5	89986685	89986685	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:89986685C>T	uc003kju.3	+	30	6874	c.6778C>T	c.(6778-6780)Cga>Tga	p.R2260*	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2260					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCAATAATTCGAAATTCTGG	0.438000														15			8		0	0	0.000274275	0	0
S100A9	6280	broad.mit.edu	37	1	153333206	153333206	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:153333206C>T	uc001fbq.3	+	2	280	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_002965	NP_002956	P06702	S10A9_HUMAN	Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA.	79	EF-hand 2.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	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)			TCGAGGAGTTCATCATGCTGA	0.572000														45			32		0	0	0.00178596	0	0
CALB2	794	broad.mit.edu	37	16	71411590	71411590	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:71411590C>T	uc002faa.4	+	3	362	c.282C>T	c.(280-282)acC>acT	p.T94T	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_Silent_p.T94T	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	94	EF-hand 2.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TCCTGCCAACCGAAGAGAACT	0.547000														41			23		0	0	0.000720815	0	0
UROC1	131669	broad.mit.edu	37	3	126218899	126218900	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:126218899_126218900CC>TT	uc010hsi.2	-	13	1477	c.1423_splice	c.e13+1	p.G475_splice	UROC1_uc003eiz.2_Splice_Site_p.G415_splice	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	415					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		cttcctcctACCTGCTCTCTGG	0.634000														25			10		0	0	6.4e-05	0	0
USH2A	7399	broad.mit.edu	37	1	216497021	216497021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:216497021G>A	uc001hku.1	-	7	1732	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C	USH2A_uc001hkv.3_Missense_Mutation_p.R449C	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	449	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATTGCCACGGGAATATGGA	0.348000										HNSCC(13;0.011)				43			33		0	0	0.000692331	0	0
OR4B1	119765	broad.mit.edu	37	11	48238697	48238697	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:48238697G>A	uc010rhs.2	+	0	336	c.336G>A	c.(334-336)ttG>ttA	p.L112L		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	112					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						AGATCCTTTTGATTGTGGTGA	0.433000														96			46		0	0	0.000781405	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911383	230911383	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:230911383G>A	uc002vqd.2	-	3	918	c.459C>T	c.(457-459)ttC>ttT	p.F153F	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.F153F|SLC16A14_uc002vqf.3_Silent_p.F153F	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	153						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GTCTCTTCTGGAAATACCTGC	0.617000														23			13		0	0	0.00185496	0	0
ZMYM6	9204	broad.mit.edu	37	1	35480717	35480717	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:35480717A>G	uc001byh.3	-	4	703	c.475T>C	c.(475-477)Tcc>Ccc	p.S159P	ZMYM6_uc001byf.1_Missense_Mutation_p.S159P|ZMYM6_uc010oht.2_Missense_Mutation_p.S62P|ZMYM6_uc009vup.3_5'UTR|ZMYM6_uc009vuq.1_Missense_Mutation_p.S159P|ZMYM6_uc009vur.1_5'UTR	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	159					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CTAGGATAGGAATTCTCAAAG	0.313000														28			27		0	0	0.00127121	0	0
DFNB59	494513	broad.mit.edu	37	2	179325898	179325898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179325898G>A	uc002umi.4	+	6	1312	c.956G>A	c.(955-957)aGg>aAg	p.R319K	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.R319K	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	319					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AACTTCAAAAGGGAGACAGTT	0.413000														71			56		0	0	0.000781405	0	0
DSP	1832	broad.mit.edu	37	6	7569492	7569493	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:7569492_7569493CG>AT	uc003mxp.1	+	11	1772_1773	c.1493_1494CG>AT	c.(1492-1494)ccg>cAT	p.P498H	DSP_uc003mxq.1_Missense_Mutation_p.P498H|DSP_uc021yle.1_Missense_Mutation_p.P498H	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	498	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		GTGACGGGCCCGGGAGGCGTTG	0.559000														142			7		0	0	6.4e-05	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543885	154543885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:154543885G>A	uc001ffg.3	+	4	850	c.586G>A	c.(586-588)Gac>Aac	p.D196N		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	196					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CAGCCTGGACGACTTCACACC	0.582000														43			29		0	0	0.00106085	0	0
PITX2	5308	broad.mit.edu	37	4	111542432	111542432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:111542432G>A	uc003iaf.3	-	5	2101	c.278C>T	c.(277-279)aCc>aTc	p.T93I	PITX2_uc003iac.3_Missense_Mutation_p.T100I|PITX2_uc003iad.3_Missense_Mutation_p.T93I|PITX2_uc021xqr.1_Missense_Mutation_p.T93I|PITX2_uc003iae.3_Missense_Mutation_p.T47I|PITX2_uc021xqs.1_Missense_Mutation_p.T47I|PITX2_uc003iag.1_Missense_Mutation_p.T100I	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	93					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTGCTGGCTGGTAAAGTGAGT	0.567000														8			27		0	0	0.000339439	0	0
ANKRD32	84250	broad.mit.edu	37	5	94030868	94030868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:94030868C>T	uc003kkr.4	+	20	3108	c.3028C>T	c.(3028-3030)Ctt>Ttt	p.L1010F	ANKRD32_uc003kks.3_Missense_Mutation_p.L374F	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	1010										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GTTACTGGATCTTTATGCTGG	0.398000														46			30		0	0	0.000339439	0	0
REEP6	92840	broad.mit.edu	37	19	1495357	1495357	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:1495357C>T	uc002ltc.3	+	1	284	c.180C>T	c.(178-180)ctC>ctT	p.L60L	REEP6_uc010xgp.2_Silent_p.L60L	NM_138393	NP_612402	Q96HR9	REEP6_HUMAN	Homo sapiens receptor accessory protein 6 (REEP6), mRNA.	60						integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		TGTGCAATCTCATCGGATTTG	0.657000														29			17		0	0	0.000958276	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887258	12887258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:12887258G>A	uc001auk.2	-	2	795	c.599C>T	c.(598-600)tCc>tTc	p.S200F		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	200										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATCCATGTGGGAGAGAACGAG	0.512000														290			101		0	0	0.000781405	0	0
CLCNKA	1187	broad.mit.edu	37	1	16354561	16354561	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:16354561C>T	uc001axu.3	+	9	995	c.915C>T	c.(913-915)acC>acT	p.T305T	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Silent_p.T262T|CLCNKA_uc001axv.3_Silent_p.T305T|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank|CLCNKA_uc021ogl.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	305					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTCAGCGAACCTTCCTCAGCT	0.592000														43			57		0	0	0.000781405	0	0
CIC	23152	broad.mit.edu	37	19	42798167	42798167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:42798167C>T	uc002otf.1	+	16	4161	c.4121C>T	c.(4120-4122)cCc>cTc	p.P1374L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTGCCCTCCCCCACCCTGCAG	0.637000			"""Mis, F, S"""		oligodendroglioma									84			25		0	0	0.00047179	0	0
RGPD4	285190	broad.mit.edu	37	2	108488586	108488586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:108488586G>A	uc010ywk.2	+	19	4208	c.4126G>A	c.(4126-4128)Gaa>Aaa	p.E1376K	RGPD4_uc002tdu.3_Missense_Mutation_p.E563K|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1376	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCAATGGAAAGAAAGGGGCAT	0.348000														150			75		0	0	0.000781405	0	0
TRRAP	8295	broad.mit.edu	37	7	98588089	98588089	+	Silent	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:98588089T>C	uc003upp.3	+	62	9824	c.9615T>C	c.(9613-9615)ctT>ctC	p.L3205L	TRRAP_uc011kis.2_Silent_p.L3176L|TRRAP_uc003upr.3_Silent_p.L2893L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3205	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.W3205C(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTGTGGCTTTTGAGTTTTG	0.468000														94			41		0	0	0.000680045	0	0
CAPN6	827	broad.mit.edu	37	X	110496372	110496372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:110496372G>A	uc004epc.2	-	3	561	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	CAPN6_uc011msu.2_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	124	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGCCAGAAACGAAAGTGAAAT	0.403000														48			34		0	0	0.000953801	0	0
TERT	7015	broad.mit.edu	37	5	1272321	1272321	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:1272321C>T	uc003jcb.1	-	6	2419	c.2361G>A	c.(2359-2361)agG>agA	p.R787R	TERT_uc003jbz.1_Intron|TERT_uc003jcc.1_Silent_p.R787R|TERT_uc003jca.1_Silent_p.R775R|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	787	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGACGGCATCCCTCAGCGGGC	0.647000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					4			3		0	0	6.4e-05	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879201	209879201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:209879201G>A	uc001hhj.3	+	2	266	c.134G>A	c.(133-135)gGg>gAg	p.G45E	HSD11B1_uc021pin.1_Missense_Mutation_p.G45E|HSD11B1_uc001hhk.3_Missense_Mutation_p.G45E	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	45					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GCCAGCAAAGGGATCGGAAGA	0.507000														52			22		0	0	0.00188189	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114190594	114190594	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:114190594G>A	uc001kzv.3	-	10	1634	c.1210C>T	c.(1210-1212)Caa>Taa	p.Q404*	ZDHHC6_uc001kzw.3_Nonsense_Mutation_p.Q400*	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	Homo sapiens zinc finger, DHHC-type containing 6 (ZDHHC6), mRNA.	404						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TCTGGGGCTTGATCTGTTTCA	0.368000														62			39		0	0	0.000781405	0	0
NBPF7	343505	broad.mit.edu	37	1	120381807	120381808	+	Splice_Site	DNP	CC	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:120381807_120381808CC>AA	uc010oxk.2	-	5	1459	c.838_splice	c.e5+1	p.E280_splice		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	280	NBPF 2.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		TAGAGGTTACCCAGAAGAATGT	0.386000														427			11		0	0	6.4e-05	0	0
EBF3	253738	broad.mit.edu	37	10	131639280	131639281	+	Missense_Mutation	DNP	AT	TG	TG			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:131639280_131639281AT>TG	uc021qav.1	-	13	1420_1421	c.1319_1320AT>CA	c.(1318-1320)aat>aCA	p.N440T	EBF3_uc001lki.2_Missense_Mutation_p.N454T	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	463					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CGCTGCTTGTATTGCGACTGTA	0.525000														51			29		0	0	6.4e-05	0	0
ME1	4199	broad.mit.edu	37	6	84056034	84056034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:84056034C>T	uc003pjy.3	-	4	723	c.458G>A	c.(457-459)gGa>gAa	p.G153E	ME1_uc011dzb.2_Missense_Mutation_p.G78E|ME1_uc011dzc.2_5'UTR	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	153					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding	p.D152V(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AATACGCTCTCCATCAGTCAC	0.423000														22			8		0	0	0.000274275	0	0
CCNB3	85417	broad.mit.edu	37	X	50054483	50054483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:50054483G>A	uc004dox.4	+	5	3612	c.3314G>A	c.(3313-3315)gGa>gAa	p.G1105E	CCNB3_uc004doy.3_Missense_Mutation_p.G1105E|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1105					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAGGCCAAGGGAACACCAAAG	0.443000														7			7		0	0	0.000157383	0	0
TTN	7273	broad.mit.edu	37	2	179642182	179642182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179642182C>T	uc021vsy.1	-	25	4835	c.4610G>A	c.(4609-4611)gGc>gAc	p.G1537D	TTN_uc021vsz.1_Missense_Mutation_p.G1491D|TTN_uc021vta.1_Missense_Mutation_p.G1491D|TTN_uc021vtb.1_Missense_Mutation_p.G1491D|TTN_uc002unb.2_Missense_Mutation_p.G1537D|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1537	Ig-like 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAGATCTGCCTGCCCTGTT	0.358000														30			15		0	0	0.000422831	0	0
ACSM1	116285	broad.mit.edu	37	16	20638546	20638546	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:20638546G>A	uc002dhm.1	-	9	1460	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.F464F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	464					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCTCCCCAGGAAACAAATGT	0.507000														136			99		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179469522	179469522	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179469522G>A	uc021vsy.1	-	229	46815	c.46590C>T	c.(46588-46590)acC>acT	p.T15530T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T9225T|TTN_uc021vta.1_Silent_p.T9158T|TTN_uc021vtb.1_Silent_p.T9033T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16457	Fibronectin type-III 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACATAATGGGTGATTTCAC	0.438000														47			34		0	0	0.000409698	0	0
OIT3	170392	broad.mit.edu	37	10	74658714	74658714	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:74658714G>A	uc001jte.1	+	1	572	c.354G>A	c.(352-354)acG>acA	p.T118T	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	118						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GGAACACCACGGTGGAAGTCA	0.577000														27			15		0	0	0.000422831	0	0
DCAF13	25879	broad.mit.edu	37	8	104427664	104427664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:104427664G>A	uc003yln.3	+	0	723	c.446G>A	c.(445-447)aGa>aAa	p.R149K	SLC25A32_uc003yll.3_5'Flank|SLC25A32_uc011lhr.2_5'Flank|DCAF13_uc003ylm.1_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		p.R149K(2)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCGGCCGGAAGAGCAACCGAG	0.562000														23			24		0	0	0.000586117	0	0
C19orf18	147685	broad.mit.edu	37	19	58472777	58472777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:58472777C>T	uc002qqv.3	-	4	616	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	172						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATGAACTTTTCCAGCTCATTT	0.488000														12			27		0	0	0.000339439	0	0
LPA	4018	broad.mit.edu	37	6	161016452	161016452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:161016452C>T	uc003qtl.3	-	21	3523	c.3403G>A	c.(3403-3405)Gaa>Aaa	p.E1135K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3643	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACACTTGATTCTGTCACCAGG	0.522000														83			63		0	0	0.000781405	0	0
CR1	1378	broad.mit.edu	37	1	207787808	207787809	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:207787808_207787809GG>AA	uc001hfy.3	+	31	5425_5426	c.5285_5286GG>AA	c.(5284-5286)tgg>tAA	p.W1762*	CR1_uc001hfx.3_Nonsense_Mutation_p.W2212*|CR1_uc021pij.1_Nonsense_Mutation_p.W1762*	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1762	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAAGCCCTTTGGAATAGCAGTG	0.416000														40			12		0	0	6.4e-05	0	0
MORC4	79710	broad.mit.edu	37	X	106243183	106243183	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:106243183C>A	uc004emu.4	-	0	292	c.17G>T	c.(16-18)gGg>gTg	p.G6V	MORC4_uc004emv.4_Missense_Mutation_p.G6V|MORC4_uc004emw.4_5'UTR	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	6							ATP binding|zinc ion binding	p.E5*(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						ggcgggggccccTCGGTACAG	0.771000														25			15		1.37285e-15	1.22636e-14	0.000422831	1	0
RAG1	5896	broad.mit.edu	37	11	36596800	36596800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:36596800C>T	uc021qgb.1	+	0	1946	c.1946C>T	c.(1945-1947)cCt>cTt	p.P649L	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.P649L	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	649					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAAGCCAAACCTAACTCTGAA	0.458000									Familial Hemophagocytic Lymphohistiocytosis					31			18		0	0	0.000958276	0	0
ACSM4	341392	broad.mit.edu	37	12	7477098	7477098	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:7477098C>T	uc001qsx.1	+	10	1440	c.1440C>T	c.(1438-1440)taC>taT	p.Y480Y		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	480					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TCTTCAGGTACCGTATTGGGC	0.463000														33			19		0	0	0.00152264	0	0
CDHR1	92211	broad.mit.edu	37	10	85971455	85971455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:85971455G>A	uc001kcv.3	+	13	1642	c.1537G>A	c.(1537-1539)Ggg>Agg	p.G513R	CDHR1_uc001kcw.3_Missense_Mutation_p.G513R|CDHR1_uc009xst.3_Missense_Mutation_p.G217R|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	513	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TTCCACCTATGGGACTGGGGC	0.577000														56			36		0	0	0.00170553	0	0
N4BP3	23138	broad.mit.edu	37	5	177548809	177548809	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:177548809A>G	uc003mik.1	+	4	1689	c.1442A>G	c.(1441-1443)gAg>gGg	p.E481G	N4BP3_uc003mil.1_Missense_Mutation_p.E150G	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	481						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGGCCAGGAGCAGGCGCTG	0.672000														3			7		0	0	8.12818e-05	0	0
COL22A1	169044	broad.mit.edu	37	8	139838922	139838922	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:139838922G>A	uc003yvd.3	-	5	1395	c.948C>T	c.(946-948)atC>atT	p.I316I		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	316	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)			TGTACTGGTCGATGACCTGCC	0.527000										HNSCC(7;0.00092)				49			32		0	0	0.000814825	0	0
BEND2	139105	broad.mit.edu	37	X	18189144	18189144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:18189144G>A	uc004cyj.4	-	12	2316	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	BEND2_uc010nfb.2_Missense_Mutation_p.P630L	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	721	BEN 2.							p.P721H(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AATCTTATTGGGGTCAAGGGC	0.408000														177			98		0	0	0.000781405	0	0
ZBTB16	7704	broad.mit.edu	37	11	114112908	114112908	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:114112908C>T	uc001pop.3	+	4	1737	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	ZBTB16_uc001poq.3_Silent_p.F491F	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	491					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGGCCGTCTTCTGTCTGCTGT	0.597000														26			16		0	0	0.00074312	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537535	54537535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:54537535C>T	uc003dhf.3	+	4	446	c.398C>T	c.(397-399)gCt>gTt	p.A133V	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.A39V|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	133						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TACTTCAATGCTGTGCTGATA	0.418000														67			41		0	0	0.000781405	0	0
SPAM1	6677	broad.mit.edu	37	7	123594216	123594216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:123594216G>A	uc003vle.3	+	2	1031	c.592G>A	c.(592-594)Gat>Aat	p.D198N	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.D198N|SPAM1_uc022aks.1_Missense_Mutation_p.D198N|SPAM1_uc003vlf.4_Missense_Mutation_p.D198N|SPAM1_uc010lku.3_Missense_Mutation_p.D198N	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	198					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GGCAGGGAAGGATTTCCTGGT	0.373000														58			18		0	0	0.00121646	0	0
HSPG2	3339	broad.mit.edu	37	1	22199211	22199211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:22199211G>A	uc009vqd.3	-	31	3974	c.3934C>T	c.(3934-3936)Cac>Tac	p.H1312Y	HSPG2_uc001bfj.3_Missense_Mutation_p.H1311Y	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1311	Laminin EGF-like 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGTGGAAGTGGTGGGGCCGG	0.657000														26			7		0	0	0.000157383	0	0
MYH7	4625	broad.mit.edu	37	14	23898283	23898283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:23898283C>T	uc001wjx.3	-	13	1394	c.1288G>A	c.(1288-1290)Gca>Aca	p.A430T		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	430	Myosin head-like.		A -> E (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCATACACTGCCTTGGCCAGT	0.537000														20			39		0	0	0.000781405	0	0
NOTCH2	4853	broad.mit.edu	37	1	120548055	120548055	+	Silent	SNP	T	C	C	rs145641723	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:120548055T>C	uc001eik.3	-	2	609	c.312A>G	c.(310-312)tcA>tcG	p.S104S	NOTCH2_uc001eil.3_Silent_p.S104S|NOTCH2_uc021osy.1_Silent_p.S65S|NOTCH2_uc001eim.4_Silent_p.S21S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	104					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGAGATGTTGAGTACTGGC	0.567000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					640			42		0	0	0.000781405	0	0
SLC25A42	284439	broad.mit.edu	37	19	19217190	19217190	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:19217190G>T	uc002nlf.2	+	5	649	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	SLC25A42_uc010xqn.1_Nonsense_Mutation_p.E217*	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	165					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			AACCCCGAAGGAAATGTGAGT	0.652000														21			6		8.12818e-05	0.000710217	8.12818e-05	1	0
TCF7L2	6934	broad.mit.edu	37	10	114925434	114925434	+	Silent	SNP	C	T	T	rs61724286		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:114925434C>T	uc021pyi.1	+	14	2070	c.1563C>T	c.(1561-1563)ccC>ccT	p.P521P	TCF7L2_uc001lah.3_3'UTR|TCF7L2_uc010qro.2_3'UTR|TCF7L2_uc001lae.4_Silent_p.P504P|TCF7L2_uc010qrm.2_3'UTR|TCF7L2_uc010qrn.2_3'UTR|TCF7L2_uc021pyg.1_Silent_p.P237P|TCF7L2_uc021pyh.1_3'UTR|TCF7L2_uc021pyj.1_3'UTR|TCF7L2_uc021pyk.1_Silent_p.P486P|TCF7L2_uc021pyl.1_3'UTR|TCF7L2_uc010qrp.2_3'UTR|TCF7L2_uc021pym.1_3'UTR|TCF7L2_uc021pyn.1_Silent_p.P509P|TCF7L2_uc021pyo.1_3'UTR|TCF7L2_uc021pyp.1_3'UTR|TCF7L2_uc010qrq.2_3'UTR|TCF7L2_uc001lac.4_Silent_p.P498P|TCF7L2_uc010qrk.2_3'UTR|TCF7L2_uc001lad.4_3'UTR|TCF7L2_uc001lag.4_3'UTR|TCF7L2_uc001laf.4_Silent_p.P481P|TCF7L2_uc010qrl.2_Silent_p.P481P|TCF7L2_uc010qrr.2_Silent_p.P436P|TCF7L2_uc010qrs.2_Silent_p.P392P|TCF7L2_uc010qrt.2_Silent_p.P392P|TCF7L2_uc010qru.2_3'UTR|TCF7L2_uc010qrv.2_3'UTR|TCF7L2_uc010qrw.2_3'UTR|TCF7L2_uc010qrx.2_3'UTR	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	521					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GCTCCCCTCCCCGAGACGCCA	0.642000			T	VTI1A	colorectal									174			102		0	0	0.000781405	0	0
OTOF	9381	broad.mit.edu	37	2	26781361	26781361	+	Splice_Site	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:26781361C>G	uc002rhk.3	-	1	206	c.79_splice	c.e1+1	p.G27_splice		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	27					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTCCCTACCTCGGAAAGTC	0.652000														45			26		0	0	0.001512	0	0
NRXN1	9378	broad.mit.edu	37	2	51254945	51254945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:51254945C>T	uc021vhh.1	-	0	1388	c.467G>A	c.(466-468)gGg>gAg	p.G156E	NRXN1_uc021vhg.1_Missense_Mutation_p.G156E|NRXN1_uc021vhi.1_Missense_Mutation_p.G156E|NRXN1_uc021vhj.1_Missense_Mutation_p.G156E|NRXN1_uc021vhk.1_Missense_Mutation_p.G156E	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	156	Laminin G-like 1.				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	p.K155K(1)		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)			GGGCAGCCCCCCGACGAAAAG	0.662000														15			7		0	0	8.12818e-05	0	0
MYO5B	4645	broad.mit.edu	37	18	47364122	47364122	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr18:47364122G>C	uc002leb.2	-	36	5191	c.4903C>G	c.(4903-4905)Ccc>Gcc	p.P1635A	MYO5B_uc002ldz.3_Missense_Mutation_p.P205A|MYO5B_uc002lea.2_Missense_Mutation_p.P750A	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1635	Dilute.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TAGCCGGTGGGCTTCACACCA	0.483000														62			4		0	0	8.12818e-05	0	0
DDR2	4921	broad.mit.edu	37	1	162731115	162731115	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:162731115C>T	uc001gcf.3	+	9	1435	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	DDR2_uc001gcg.3_Silent_p.L324L	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	324					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCCCCTTGTCCTGGATGACGT	0.507000														27			22		0	0	0.000375601	0	0
TP73	7161	broad.mit.edu	37	1	3639953	3639953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:3639953G>A	uc001akp.3	+	5	762	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	TP73_uc021ofb.1_Missense_Mutation_p.E218K|TP73_uc021ofc.1_Missense_Mutation_p.E218K|TP73_uc021ofd.1_Missense_Mutation_p.E218K|TP73_uc021ofe.1_Missense_Mutation_p.E218K|TP73_uc021off.1_Missense_Mutation_p.E218K|TP73_uc010nzj.2_Missense_Mutation_p.E169K|TP73_uc021ofg.1_Missense_Mutation_p.E169K|TP73_uc021ofh.1_Missense_Mutation_p.E169K|TP73_uc021ofi.1_Missense_Mutation_p.E169K|TP73_uc001akr.3_Missense_Mutation_p.E169K|TP73_uc009vlk.2_Missense_Mutation_p.E169K|TP73_uc001aks.3_Missense_Mutation_p.E169K|TP73_uc010nzk.2_Missense_Mutation_p.E147K	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	218	DNA-binding (Potential).				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CATCCGCGTGGAAGGCAATAA	0.622000														15			23		0	0	0.000720815	0	0
SYNE1	23345	broad.mit.edu	37	6	152847225	152847225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:152847225C>T	uc021zhb.1	-	2	438	c.215G>A	c.(214-216)gGg>gAg	p.G72E	SYNE1_uc003qot.4_Missense_Mutation_p.G72E|SYNE1_uc003qou.4_Missense_Mutation_p.G72E|SYNE1_uc010kjb.1_Missense_Mutation_p.G72E|SYNE1_uc003qpa.1_Missense_Mutation_p.G72E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	72	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CAGTTTCTGCCCAGACAGGAC	0.428000										HNSCC(10;0.0054)				38			25		0	0	0.000878237	0	0
POM121L12	285877	broad.mit.edu	37	7	53104047	53104047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:53104047C>T	uc003tpz.3	+	0	699	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	228								p.A227S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGGTTGCTTCCTTCGTGCCC	0.642000														42			19		0	0	0.000958276	0	0
APC	324	broad.mit.edu	37	5	112179639	112179639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:112179639C>T	uc003kpz.4	+	16	8541	c.8348C>T	c.(8347-8349)cCt>cTt	p.P2783L	APC_uc011cvt.2_Missense_Mutation_p.P2765L|APC_uc003kpy.4_Missense_Mutation_p.P2783L|APC_uc010jbz.3_Missense_Mutation_p.P2500L|APC_uc010jca.3_Missense_Mutation_p.P2083L	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	2783	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAGTGACTCCTTTTAATTAC	0.468000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				49			28		0	0	0.000339439	0	0
MLL2	8085	broad.mit.edu	37	12	49434624	49434624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:49434624G>A	uc001rta.4	-	30	6929	c.6929C>T	c.(6928-6930)cCc>cTc	p.P2310L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2310	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCTGAGGAGGGTGAGTCAAC	0.607000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				20			9		0	0	0.000274275	0	0
SPG7	6687	broad.mit.edu	37	16	89598932	89598932	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:89598932C>T	uc002fnj.3	+	8	1233	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	SPG7_uc002fni.3_Silent_p.I404I	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	404					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CCCCCTGCATCGTCTACATCG	0.617000														45			38		0	0	0.000953801	0	0
NME8	51314	broad.mit.edu	37	7	37936528	37936528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:37936528G>A	uc003tfn.3	+	16	1973	c.1601G>A	c.(1600-1602)cGa>cAa	p.R534Q		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	534	NDK 3.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GAATGGAGACGATTGATGGGC	0.458000														56			73		0	0	0.000781405	0	0
NRG3	10718	broad.mit.edu	37	10	84745267	84745267	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:84745267C>A	uc021pvc.1	+	9	2096	c.2069C>A	c.(2068-2070)gCc>gAc	p.A690D	NRG3_uc010qlz.1_Missense_Mutation_p.A665D|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.A666D|NRG3_uc001kcp.2_Missense_Mutation_p.A469D|NRG3_uc001kcq.2_Missense_Mutation_p.A316D|NRG3_uc021pvd.1_Missense_Mutation_p.A445D|NRG3_uc021pve.1_Missense_Mutation_p.A470D|NRG3_uc021pvf.1_Missense_Mutation_p.A316D|NRG3_uc021pvg.1_Missense_Mutation_p.A494D|NRG3_uc021pvh.1_Missense_Mutation_p.A278D|NRG3_uc021pvi.1_Missense_Mutation_p.A496D|NRG3_uc021pvk.1_Missense_Mutation_p.A206D|NRG3_uc001kcr.2_Missense_Mutation_p.A340D|NRG3_uc021pvl.1_Missense_Mutation_p.A316D	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	690					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.A469D(1)|p.A666D(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAAAACACAGCCTTTCTCCCC	0.493000														22			40		3.33393e-15	2.96989e-14	0.000953801	1	0
GPD2	2820	broad.mit.edu	37	2	157439371	157439371	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:157439371G>C	uc002tzf.4	+	16	2485	c.2125G>C	c.(2125-2127)Gaa>Caa	p.E709Q	GPD2_uc010zch.2_Missense_Mutation_p.E482Q|GPD2_uc002tzd.4_Missense_Mutation_p.E709Q|GPD2_uc002tze.1_Non-coding_Transcript|GPD2_uc021vrl.1_5'Flank	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	709					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	p.A708V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GAAAACTGCAGAAGAGAACCT	0.438000														72			6		0	0	0.000157383	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555338	155555338	+	Silent	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:155555338A>G	uc002tyv.1	+	0	246	c.51A>G	c.(49-51)acA>acG	p.T17T	KCNJ3_uc010zce.1_Silent_p.T17T|KCNJ3_uc021vrh.1_Silent_p.T17T	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	17					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TAGTGACCACATCGTCCAGCG	0.597000														49			34		0	0	0.00111076	0	0
TTC27	55622	broad.mit.edu	37	2	32859011	32859011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:32859011C>T	uc002rom.3	+	2	608	c.335C>T	c.(334-336)cCc>cTc	p.P112L	TTC27_uc010ymx.2_Missense_Mutation_p.P62L|MIR4765_uc021vfs.1_5'Flank	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	112							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TGGACGGGGCCCCCTGTTGAC	0.368000														98			35		0	0	0.00148497	0	0
ZNF7	7553	broad.mit.edu	37	8	146068380	146068380	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:146068380A>G	uc010mge.3	+	4	2058	c.1921A>G	c.(1921-1923)Ata>Gta	p.I641V	ZNF7_uc003zeg.4_Missense_Mutation_p.I630V|ZNF7_uc011lln.2_Missense_Mutation_p.I534V|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Missense_Mutation_p.I534V|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	630					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GGTTAATACTATAAAGAAACT	0.428000														52			24		0	0	0.00047179	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48133923	48133923	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:48133923C>T	uc001rpz.4	-	23	2923	c.2373_splice	c.e23+1	p.L791_splice	AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_Splice_Site_p.L84_splice|RAPGEF3_uc001rpx.3_Splice_Site_p.L206_splice|RAPGEF3_uc010sln.2_Splice_Site_p.L246_splice|RAPGEF3_uc001rpy.3_Splice_Site|RAPGEF3_uc009zkp.3_Splice_Site_p.L749_splice|RAPGEF3_uc009zkq.3_Splice_Site_p.L749_splice	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	749					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGAGCACTCACCAGCAGCCTC	0.667000														7			3		0	0	0.00116845	0	0
AKR1C3	8644	broad.mit.edu	37	10	5009146	5009146	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:5009146T>G	uc001iho.3	+	7	1121	c.280T>G	c.(280-282)Ttg>Gtg	p.L94V	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc009xhx.2_Missense_Mutation_p.L94V|AKR1C3_uc001ihq.3_Missense_Mutation_p.L94V	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	94					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TCGACCAGAGTTGGTCCGACC	0.413000														84			7		0	0	0.000274275	0	0
EEPD1	80820	broad.mit.edu	37	7	36320782	36320782	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:36320782G>C	uc003tfa.3	+	3	1629	c.989G>C	c.(988-990)cGg>cCg	p.R330P		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	330					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AAGGGGCCCCGGGGATGCTGG	0.567000														35			31		0	0	0.000814825	0	0
OR2L2	26246	broad.mit.edu	37	1	248202226	248202226	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:248202226G>A	uc001idw.3	+	0	753	c.657G>A	c.(655-657)cgG>cgA	p.R219R	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G218C(1)|p.R219Q(1)|p.R219L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTATGGCCGGGTTCTCCTTG	0.502000														102			35		0	0	0.00058488	0	0
NR2C1	7181	broad.mit.edu	37	12	95456372	95456372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:95456372G>A	uc001tdm.4	-	2	453	c.197C>T	c.(196-198)cCg>cTg	p.P66L	NR2C1_uc010suu.1_Missense_Mutation_p.P66L|NR2C1_uc001tdn.4_Missense_Mutation_p.P66L|NR2C1_uc001tdo.4_Missense_Mutation_p.P66L	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	66	Required for interaction with KAT2B (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AACTTTTCCCGGAGTGGAATC	0.448000														17			16		0	0	0.000308642	0	0
DGAT2	84649	broad.mit.edu	37	11	75509401	75509401	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:75509401C>T	uc001oxa.3	+	6	1198	c.939C>T	c.(937-939)atC>atT	p.I313I	DGAT2_uc001oxb.3_Silent_p.I270I	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	313					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CCCCATGCATCTTCCATGGTC	0.572000														42			29		0	0	0.00106085	0	0
SFXN5	94097	broad.mit.edu	37	2	73188368	73188368	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:73188368G>A	uc002siq.3	-	12	968	c.837C>T	c.(835-837)ctC>ctT	p.L279L	SFXN5_uc002sip.3_Intron|SFXN5_uc002sio.3_Silent_p.L171L|SFXN5_uc010yrc.2_Silent_p.L128L|SFXN5_uc010fet.3_Missense_Mutation_p.S212F|SFXN5_uc010fer.3_Intron|SFXN5_uc010feq.3_Silent_p.L61L|SFXN5_uc010fes.3_Silent_p.L61L	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA.	279					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GTGCCTGCAGGAGAGCCGTCC	0.687000														17			7		0	0	0.000274275	0	0
OR6V1	346517	broad.mit.edu	37	7	142749795	142749795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:142749795C>T	uc011ksv.2	+	0	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GGCCCTTGATCGCTTTGTGGC	0.577000														82			31		0	0	0.00178596	0	0
CACNA1A	773	broad.mit.edu	37	19	13356002	13356002	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:13356002C>G	uc002mwy.3	-	30	5180	c.4944G>C	c.(4942-4944)gaG>gaC	p.E1648D	CACNA1A_uc002mwx.3_Missense_Mutation_p.E354D|CACNA1A_uc010dzc.2_Missense_Mutation_p.E1174D|CACNA1A_uc010xnd.2_Missense_Mutation_p.E1651D|CACNA1A_uc021ups.1_Missense_Mutation_p.E1648D|CACNA1A_uc010xne.2_Missense_Mutation_p.E1651D|CACNA1A_uc010dze.2_Missense_Mutation_p.E1648D|CACNA1A_uc021upt.1_Missense_Mutation_p.E1649D|CACNA1A_uc002mwv.3_Missense_Mutation_p.E165D	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1649					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTACCCCAAACTCAGTCACGA	0.587000														54			5		0	0	0.000157383	0	0
HEATR8	374977	broad.mit.edu	37	1	55118647	55118647	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:55118647G>A	uc010ooe.1	+	2	372	c.48G>A	c.(46-48)aaG>aaA	p.K16K	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Silent_p.K16K|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.K16K|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	16						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGACCCAAAGATGACACCAA	0.592000														51			17		0	0	0.000958276	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174200384	174200385	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:174200384_174200385CC>AA	uc001gjx.3	+	3	710_711	c.433_434CC>AA	c.(433-435)cca>AAa	p.P145K	RABGAP1L_uc009wwq.2_Missense_Mutation_p.P145K|RABGAP1L_uc001gjw.3_Missense_Mutation_p.P108K	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	145	PID.				regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGTTTCTTCCCCACGTAATGAA	0.416000														192			8		0	0	6.4e-05	0	0
KRT37	8688	broad.mit.edu	37	17	39578656	39578656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:39578656C>T	uc002hwp.1	-	3	810	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	255	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CGGAACTTCTCCCCCAGCTGA	0.557000														34			46		0	0	0.000781405	0	0
CHRNG	1146	broad.mit.edu	37	2	233409492	233409492	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:233409492G>A	uc002vsx.1	+	10	1281	c.1260G>A	c.(1258-1260)ccG>ccA	p.P420P	CHRNG_uc010fye.1_Silent_p.P368P	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	420					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		AGAAAGGCCCGGAGTTAGGGC	0.582000														40			24		0	0	0.001512	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209168922	209168922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:209168922C>T	uc002vcz.3	+	10	1506	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S	PIKFYVE_uc010fun.1_Missense_Mutation_p.P131S|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P450S|PIKFYVE_uc002vcw.3_Missense_Mutation_p.P450S|PIKFYVE_uc002vcv.3_Missense_Mutation_p.P353S|PIKFYVE_uc002vcx.3_Missense_Mutation_p.P364S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	450					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GACGCCTTCTCCCGACAGTGA	0.443000														45			21		0	0	0.00188189	0	0
SCN5A	6331	broad.mit.edu	37	3	38674791	38674791	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:38674791T>C	uc021wvo.1	-	0	60	c.8A>G	c.(7-9)aAc>aGc	p.N3S	SCN5A_uc021wvk.1_Missense_Mutation_p.N3S|SCN5A_uc021wvl.1_Missense_Mutation_p.N3S|SCN5A_uc021wvm.1_Missense_Mutation_p.N3S|SCN5A_uc021wvn.1_Missense_Mutation_p.N3S|SCN5A_uc021wvp.1_Missense_Mutation_p.N3S|SCN5A_uc021wvq.1_Missense_Mutation_p.N3S|SCN5A_uc021wvr.1_Missense_Mutation_p.N3S|SCN5A_uc021wvs.1_Missense_Mutation_p.N3S|SCN5A_uc021wvt.1_Missense_Mutation_p.N3S|SCN5A_uc021wvu.1_Missense_Mutation_p.N3S|SCN5A_uc021wvv.1_Missense_Mutation_p.N3S|SCN5A_uc021wvx.1_Missense_Mutation_p.T6A	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	3					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)	TAATAGGAAGTTTGCCATCTT	0.592000														38			13		0	0	0.000422831	0	0
EPHA10	284656	broad.mit.edu	37	1	38227621	38227621	+	Silent	SNP	G	A	A	rs138523815		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:38227621G>A	uc009vvi.3	-	2	392	c.306C>T	c.(304-306)ttC>ttT	p.F102F	EPHA10_uc001cbw.4_Silent_p.F102F	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	102						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCAGTTCCACGAAGATGCGCT	0.612000														129			34		0	0	0.000953801	0	0
VEZF1	7716	broad.mit.edu	37	17	56052172	56052172	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:56052172C>A	uc002ivf.1	-	5	1371	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W		NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	410	4 X 7 AA repeats of P-[LV]-T-[IL]-T-[ST]- P.			G -> E (in Ref. 1; BAA05663).	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						GACATAGTCCCAGACGACACA	0.463000														82			5		0.000602214	0.00520509	0.000602214	1	0
C12orf51	283450	broad.mit.edu	37	12	112690352	112690352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:112690352G>A	uc021reb.1	-	22	3422	c.3026C>T	c.(3025-3027)cCc>cTc	p.P1009L	C12orf51_uc010syk.1_Intron|C12orf51_uc001tts.2_Intron|C12orf51_uc001ttt.3_Intron	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TAAGGAAGGGGGGGAAATGCA	0.398000														46			34		0	0	0.000814825	0	0
GABRA6	2559	broad.mit.edu	37	5	161117247	161117247	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:161117247G>A	uc003lyu.2	+	6	1052	c.714G>A	c.(712-714)agG>agA	p.R238R	GABRA6_uc003lyv.2_Silent_p.R9R	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	238					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTTGCAAAGGAAGATGGGCT	0.398000										TCGA Ovarian(5;0.080)				18			31		0	0	0.00058488	0	0
GGA2	23062	broad.mit.edu	37	16	23489773	23489773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:23489773G>A	uc002dlq.3	-	12	1291	c.1208C>T	c.(1207-1209)aCg>aTg	p.T403M	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	403	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GCCTGGCAGCGTGCTGGAGGA	0.527000														46			24		0	0	0.00106085	0	0
FBXL13	222235	broad.mit.edu	37	7	102669176	102669176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:102669176G>A	uc003vaq.2	-	3	515	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	FBXL13_uc010lir.1_Missense_Mutation_p.R30C|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.R30C|FBXL13_uc003vav.2_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	30										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCATTTGTACGAGCTATGTCT	0.333000														47			19		0	0	0.00074312	0	0
MUC16	94025	broad.mit.edu	37	19	9046631	9046631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:9046631C>T	uc002mkp.3	-	4	35204	c.35000G>A	c.(34999-35001)gGg>gAg	p.G11667E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11669	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						AGTCTGTGTCCCAGGATGGGT	0.517000														71			23		0	0	0.00188189	0	0
PRKCB	5579	broad.mit.edu	37	16	24202506	24202506	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:24202506G>A	uc002dmd.3	+	15	2015	c.1818G>A	c.(1816-1818)gaG>gaA	p.E606E	PRKCB_uc002dme.3_Silent_p.E606E	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	606	AGC-kinase C-terminal.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTGATTGGGAGAAACTTGAAC	0.478000														64			43		0	0	0.000589545	0	0
PHF3	23469	broad.mit.edu	37	6	64421505	64421505	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:64421505C>T	uc003pep.1	+	14	4046	c.4021C>T	c.(4021-4023)Cta>Tta	p.L1341L	PHF3_uc003pen.2_Silent_p.L1253L|PHF3_uc011dxs.1_Silent_p.L610L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1341					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAGACCTAATCTATTGTTGGG	0.373000														71			43		0	0	0.000680045	0	0
NEB	4703	broad.mit.edu	37	2	152408283	152408283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:152408283C>T	uc021vrb.1	-	99	14839	c.14810G>A	c.(14809-14811)cGg>cAg	p.R4937Q	NEB_uc002txr.3_Missense_Mutation_p.R1403Q|NEB_uc002txu.3_Missense_Mutation_p.R6638Q|NEB_uc021vrc.1_Missense_Mutation_p.R6638Q|NEB_uc010fnx.3_Missense_Mutation_p.R4925Q|NEB_uc021vrd.1_Missense_Mutation_p.R4937Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4937					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	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)		ATGAAGGGCCCGGTCCAGATC	0.517000														28			10		0	0	0.000978159	0	0
COL4A4	1286	broad.mit.edu	37	2	227915767	227915767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:227915767G>A	uc021vxr.1	-	31	3177	c.3076C>T	c.(3076-3078)Cct>Tct	p.P1026S	COL4A4_uc021vxs.1_Missense_Mutation_p.P1026S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1026	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGGGTCCAGGAGGCCCTGGC	0.587000														52			35		0	0	0.00128727	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993562	140993562	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:140993562C>T	uc004fbt.3	+	3	696	c.372C>T	c.(370-372)gtC>gtT	p.V124V	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	124							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGGATGTCCAGTCTCCTC	0.502000										HNSCC(15;0.026)				63			31		0	0	0.001512	0	0
CLEC3B	7123	broad.mit.edu	37	3	45067941	45067941	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:45067941G>A	uc003cok.4	+	0	183	c.87G>A	c.(85-87)aaG>aaA	p.K29K		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	29					skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAGCCCAAGAAGATTGTAA	0.602000														13			15		0	0	0.00074312	0	0
IGSF3	3321	broad.mit.edu	37	1	117146637	117146637	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:117146637G>A	uc001egq.1	-	6	1998	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	IGSF3_uc001egr.1_Silent_p.I411I|IGSF3_uc001egs.1_Silent_p.I84I	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	411	Ig-like C2-type 4.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTCCACGGAGATGCTGCTCT	0.617000														12			6		0	0	0.00116845	0	0
SNORD113-7	767567	broad.mit.edu	37	14	101407515	101407515	+	RNA	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:101407515C>T	uc001yio.3	+	0		c.53C>T								Homo sapiens small nucleolar RNA, C/D box 113-7 (SNORD113-7), small nucleolar RNA.																		TCTGATTATACCCTGTCTGTA	0.363000														24			83		0	0	0.000781405	0	0
CRB1	23418	broad.mit.edu	37	1	197390978	197390978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:197390978G>A	uc001gtz.3	+	5	2229	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N	CRB1_uc010poz.2_Missense_Mutation_p.D605N|CRB1_uc009wza.3_Missense_Mutation_p.D562N|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.D674N|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.D155N|CRB1_uc001gub.1_Missense_Mutation_p.D323N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	674	EGF-like 12.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTGAGAAAGGATTGGTGTGA	0.483000														13			45		0	0	0.000781405	0	0
FAM71F1	84691	broad.mit.edu	37	7	128370028	128370028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:128370028G>A	uc003vno.1	+	5	979	c.926G>A	c.(925-927)gGa>gAa	p.G309E	FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.G208E|FAM71F1_uc003vnp.1_Missense_Mutation_p.G307E	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	309										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTCACGTACGGAGAGTGGGAA	0.557000														97			30		0	0	0.00106085	0	0
OR2W3	343171	broad.mit.edu	37	1	248059574	248059574	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:248059574G>T	uc010pzb.2	+	0	686	c.686G>T	c.(685-687)cGg>cTg	p.R229L	OR2W3_uc001idp.1_Missense_Mutation_p.R229L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R229W(1)		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)			TTACAAATTCGGTCAGCATCA	0.527000														88			36		3.21399e-22	2.89531e-21	0.000953801	1	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	Frame_Shift_Ins	INS	-	AGCT	AGCT	rs141324796	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:17034125_17034126insAGCT	uc001azn.1	-	2	478_479	c.364_365insAGCT	c.(364-366)tggfs	p.W122fs	ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CAGCAGCAGCCAGCTGAGCACC	0.718													---	5	---	---	5	---					
TMEM200B	399474	broad.mit.edu	37	1	29448162	29448162	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:29448162delG	uc021oki.1	-	0	179	c.179delC	c.(178-180)gcgfs	p.A60fs	TMEM200B_uc021okh.1_Frame_Shift_Del_p.A60fs|TMEM200B_uc001brn.2_Frame_Shift_Del_p.A60fs	NM_001171868	NP_001165339	Q69YZ2	T200B_HUMAN	Homo sapiens transmembrane protein 200B (TMEM200B), transcript variant 1, mRNA.	60						integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TACCACGAGCGCCCCCAGCGC	0.806													---	4	---	---	2	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:32670247_32670248delTG	uc021okt.1	+	4	706_707	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	0								p.A192V(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													---	277	---	---	8	---					
CLCC1	23155	broad.mit.edu	37	1	109477407	109477407	+	Frame_Shift_Del	DEL	T	-	-	rs150759040	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:109477407delT	uc021ora.1	-	9	1552	c.1541delA	c.(1540-1542)aagfs	p.K514fs	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Frame_Shift_Del_p.K464fs|CLCC1_uc001dwf.1_Frame_Shift_Del_p.K514fs|CLCC1_uc009wes.1_Frame_Shift_Del_p.K393fs|CLCC1_uc009wet.1_Frame_Shift_Del_p.K329fs	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	514						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597													---	753	---	---	7	---					
CTSE	1510	broad.mit.edu	37	1	206325342	206325342	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:206325342delC	uc001hdu.3	+	4	685	c.567delC	c.(565-567)tacfs	p.Y189fs	CTSE_uc001hdv.3_Frame_Shift_Del_p.Y189fs|CTSE_uc010prs.2_Frame_Shift_Del_p.Y114fs	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	194					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GCCTGGGATACCCCTCCTTGG	0.517													---	45	---	---	50	---					
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	T	T	rs34551853		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:6621848_6621849insT	uc003sqi.3	+	5	694_695	c.336_337insT	c.(334-339)ctgtttfs	p.L112fs	ZDHHC4_uc003sql.3_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqj.3_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqh.3_Frame_Shift_Ins_p.L112fs	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	112						integral to membrane	acyltransferase activity|zinc ion binding	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.450													---	350	---	---	8	---					
GNB2	2783	broad.mit.edu	37	7	100274423	100274424	+	Splice_Site	DEL	GT	-	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:100274423_100274424delGT	uc003uwb.3	+	4	476	c.203_splice	c.e4+1	p.R68_splice	GNB2_uc003uwf.3_5'Flank	NM_005273	NP_005264	P62879	GBB2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2 (GNB2), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCGACTCAAGGTGTGTGTGTGT	0.634													---	4	---	---	2	---					
BHLHE22	27319	broad.mit.edu	37	8	65493617	65493618	+	In_Frame_Ins	INS	-	GGC	GGC			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:65493617_65493618insGGC	uc003xvi.3	+	0	823_824	c.270_271insGGC	c.(268-273)insGGC	p.97_98insG	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	97	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcgcgggaagtggcggcggcgg	0.782													---	4	---	---	2	---					
BBS10	79738	broad.mit.edu	37	12	76740943	76740944	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:76740943_76740944delCT	uc001syd.1	-	1	905_906	c.821_822delAG	c.(820-822)gagfs	p.E274fs		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	274					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TTAGAATAAACTCTGATCCAGA	0.361									Bardet-Biedl syndrome				---	32	---	---	10	---					
PAFAH1B3	5050	broad.mit.edu	37	19	42801471	42801473	+	In_Frame_Del	DEL	TTC	-	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:42801471_42801473delTTC	uc002otg.2	-	4	788_790	c.453_455delGAA	c.(451-456)aagaac>aac	p.K151del	PAFAH1B3_uc010xwi.1_In_Frame_Del_p.K151del|PAFAH1B3_uc010xwj.1_In_Frame_Del_p.K151del	NM_002573	NP_002564	Q15102	PA1B3_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) (PAFAH1B3), transcript variant 2, mRNA.	151					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				CACCTGTCGGTTCTTCTCCCGAA	0.586													---	59	---	---	46	---					
