Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
EPB41L3	23136	broad.mit.edu	37	18	5416200	5416200	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr18:5416200C>G	ENST00000341928.2	-	13	2024	c.1684G>C	c.(1684-1686)Ggg>Cgg	p.G562R	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G562R|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	562	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.G562R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TAAGGCCTCCCTGGGCCATCA	0.572000													48	129					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													6	207					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53619715	53619715	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr14:53619715G>T	ENST00000357758.3	-	1	285	c.102C>A	c.(100-102)ttC>ttA	p.F34L	DDHD1_ENST00000323669.5_Missense_Mutation_p.F34L|DDHD1_ENST00000395606.1_Missense_Mutation_p.F34L	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	34					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CGCCGCCGCCGAACGCTGGCC	0.761000													3	3					0.004672	0.004672	1	1	0
RUVBL2	10856	broad.mit.edu	37	19	49510321	49510321	+	Silent	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr19:49510321C>T	ENST00000413176.2	+	5	1325	c.177C>T	c.(175-177)gcC>gcT	p.A59A	RUVBL2_ENST00000595090.1_Silent_p.A104A|RUVBL2_ENST00000601968.1_Silent_p.A59A			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	104					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CAGCCATCGCCGGCAGTGAAA	0.652000													38	185					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	124036909	124036909	+	Silent	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr5:124036909G>A	ENST00000306315.5	-	2	1395	c.960C>T	c.(958-960)ctC>ctT	p.L320L	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	320						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCTGAGGCGTGAGACTGCTGG	0.512000													37	25					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46754960	46754960	+	Silent	SNP	C	C	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr12:46754960C>A	ENST00000256689.5	-	16	1899	c.1455G>T	c.(1453-1455)gtG>gtT	p.V485V	SLC38A2_ENST00000551374.1_Silent_p.V323V	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	485					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TTCCGGTCATCACCAGTACAC	0.408000													24	32					9.04412e-07	9.25946e-07	1	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284000													3	61					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150647106	150647106	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr7:150647106G>C	ENST00000430723.3	-	9	2560	c.2548C>G	c.(2548-2550)Cca>Gca	p.P850A	KCNH2_ENST00000330883.4_Intron|KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000262186.5_Intron	NM_172056.2	NP_742053.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	0					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCCCCGCTTGGAGGGCCTGAG	0.587000													4	6					0	0	1	0	0
STX18	53407	broad.mit.edu	37	4	4458959	4458959	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr4:4458959C>G	ENST00000306200.2	-	5	519	c.456G>C	c.(454-456)caG>caC	p.Q152H	STX18_ENST00000505286.1_Missense_Mutation_p.Q152H	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	152					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GGATGGCTCTCTGTTCTGAGT	0.338000													25	17					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33135367	33135367	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr19:33135367G>C	ENST00000306065.4	-	5	547	c.389C>G	c.(388-390)tCa>tGa	p.S130*	ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.S130*	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	130					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AAAGGGATCTGAGGGTGCCAA	0.507000													177	487					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													3	30					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53279750	53279750	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chrX:53279750T>C	ENST00000396435.3	-	5	2208	c.2008A>G	c.(2008-2010)Act>Gct	p.T670A	IQSEC2_ENST00000375365.2_Missense_Mutation_p.T465A|IQSEC2_ENST00000375368.5_Missense_Mutation_p.T660A	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	660					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CTGGGCCCAGTGCCACTGTTG	0.687000													21	77					0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220078577	220078577	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr2:220078577C>T	ENST00000265316.3	-	9	1865	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	ABCB6_ENST00000439002.2_Missense_Mutation_p.A471T	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	517	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAAAGTATGCGCAAAGCAGG	0.562000													5	344					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr7:72663998T>G	ENST00000425256.1	-	0	902																											ATAGCCGGGGTCCTTGAATAC	0.488000													4	69					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275409	152275409	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr1:152275409C>T	ENST00000368799.1	-	3	11988	c.11953G>A	c.(11953-11955)Gat>Aat	p.D3985N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3985					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D3985H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCATAATCATAATCTGCA	0.398000									Ichthyosis				49	102					0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43698114	43698114	+	Splice_Site	SNP	C	C	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chrX:43698114C>A	ENST00000378069.4	-	3	426	c.279G>T	c.(277-279)aaG>aaT	p.K93N	MAOB_ENST00000538942.1_Splice_Site_p.K77N|MAOB_ENST00000536181.1_Splice_Site_p.K77N|MAOB_ENST00000487544.1_5'UTR	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	93					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	CTGATCTTACCTTTACATGGT	0.413000													24	83					3.65163e-15	3.9255e-15	1	1	0
PPARA	5465	broad.mit.edu	37	22	46611198	46611198	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr22:46611198C>T	ENST00000396000.2	+	4	602	c.337C>T	c.(337-339)Cat>Tat	p.H113Y	PPARA_ENST00000407236.1_Missense_Mutation_p.H113Y|PPARA_ENST00000402126.1_Missense_Mutation_p.H113Y|PPARA_ENST00000434345.2_Missense_Mutation_p.H113Y|PPARA_ENST00000262735.5_Missense_Mutation_p.H113Y			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	113					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CTCAGGCTATCATTACGGAGT	0.557000													31	21					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542773	14542773	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr18:14542773C>T	ENST00000358970.5	-	1	372	c.373G>A	c.(373-375)Gac>Aac	p.D125N	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	125										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGGCGCTGTCGTCGTAGTCT	0.607000													6	341					0	0	1	0	0
RNF135	84282	broad.mit.edu	37	17	29325726	29325726	+	Silent	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr17:29325726G>A	ENST00000328381.5	+	5	1689	c.816G>A	c.(814-816)ctG>ctA	p.L272L	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	272	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				CCTGCAGCCTGGAGGTGTCCA	0.493000													60	105					0	0	1	0	0
LYG1	129530	broad.mit.edu	37	2	99907780	99907780	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr2:99907780C>T	ENST00000409448.1	-	6	569	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	LYG1_ENST00000308528.4_Missense_Mutation_p.V85M			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	85					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CCAGCGATCACGGCAGGATCC	0.493000													29	55					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874658	33874658	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr20:33874658C>T	ENST00000374408.3	-	4	2020	c.1924G>A	c.(1924-1926)Ggc>Agc	p.G642S		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	642										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGGAATGGGCCGAACTTTGTG	0.637000													41	68					0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53647742	53647742	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr12:53647742G>A	ENST00000534842.1	+	2	1591	c.1444G>A	c.(1444-1446)Gct>Act	p.A482T	MFSD5_ENST00000329548.4_Missense_Mutation_p.A375T	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	375					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GACAGAGCAGGCTGGTGTACT	0.502000													49	85					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42344681	42344681	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr20:42344681G>A	ENST00000217026.4	+	14	2184	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D	MYBL2_ENST00000396863.4_Missense_Mutation_p.G662D	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	686						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGCTCCTGGGCCGCCTGAAG	0.622000													123	251					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63009828	63009828	+	Silent	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr15:63009828G>A	ENST00000561311.1	+	23	3047	c.2817G>A	c.(2815-2817)caG>caA	p.Q939Q	TLN2_ENST00000306829.6_Silent_p.Q939Q			Q9Y4G6	TLN2_HUMAN	talin 2	939	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCGCCTCCCAGAATGCAGCTG	0.572000													9	8					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	228381	228381	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr5:228381A>T	ENST00000264932.6	+	6	818	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	235					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTGGTGTCATCGCACTGTG	0.428000									Familial Paragangliomas				5	116					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								5	73					0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3390945	3390945	+	Missense_Mutation	SNP	G	G	C	rs139909672		TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr12:3390945G>C	ENST00000011898.5	+	8	771	c.610G>C	c.(610-612)Gtg>Ctg	p.V204L	TSPAN9_ENST00000537971.1_Missense_Mutation_p.V204L|TSPAN9_ENST00000407263.1_Missense_Mutation_p.V204L	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	204						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CAATAAGCACGTGCTGGGCAC	0.612000													11	55					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10025156	10025156	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr20:10025156G>A	ENST00000378380.3	+	4	990	c.661G>A	c.(661-663)Gct>Act	p.A221T	ANKEF1_ENST00000378392.1_Missense_Mutation_p.A221T|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		CAGGCATCACGCTGCTCATTT	0.378000													4	180					0	0	1	0	0
LANCL2	55915	broad.mit.edu	37	7	55468945	55468945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr7:55468945C>T	ENST00000254770.2	+	5	1335	c.757C>T	c.(757-759)Cag>Tag	p.Q253*		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	253					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GCTGTTGTACCAGTGGCACCG	0.448000													39	58					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887579	12887579	+	Missense_Mutation	SNP	G	G	T	rs2486717	by1000genomes	TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr1:12887579G>T	ENST00000535591.1	-	3	473	c.278C>A	c.(277-279)aCa>aAa	p.T93K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	93								p.T93K(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGCACTGGTGTTTTGTTCCT	0.493000													112	266					1.06059e-47	1.20014e-47	1	1	0
FAM155A	728215	broad.mit.edu	37	13	108518712	108518712	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr13:108518712T>C	ENST00000375915.2	-	1	371	c.233A>G	c.(232-234)cAg>cGg	p.Q78R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	78	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgccgctgctg	0.677000													4	114					0	0	1	0	0
GOLGA8M	653720	broad.mit.edu	37	15	23261774	23261774	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr15:23261774C>A	ENST00000450802.3	+	12	984	c.886C>A	c.(886-888)Ccc>Acc	p.P296T		NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1	NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1																					TGAACCCTTGCCCCCGGAGCC	0.562000													39	55					3.54909e-21	3.9131e-21	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746195	77746195	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr2:77746195C>T	ENST00000409088.3	-	3	1214	c.800G>A	c.(799-801)gGa>gAa	p.G267E	LRRTM4_ENST00000409093.1_Missense_Mutation_p.G267E|LRRTM4_ENST00000409911.1_Missense_Mutation_p.G268E|LRRTM4_ENST00000409282.1_Missense_Mutation_p.G268E|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G267E	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	267						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CGGCTCAATTCCTTGGATGTC	0.413000													9	15					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77407659	77407659	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr9:77407659C>T	ENST00000451710.3	-	19	2656	c.2419G>A	c.(2419-2421)Gat>Aat	p.D807N	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D802N|TRPM6_ENST00000449912.2_Missense_Mutation_p.D802N|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.D807N|TRPM6_ENST00000360774.1_Missense_Mutation_p.D807N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	807					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGTTTCTCATCATGGCCCCTT	0.378000													15	33					0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76120700	76120700	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr17:76120700G>C	ENST00000590602.1	-	8	955	c.796C>G	c.(796-798)Ctg>Gtg	p.L266V	TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000392467.3_Missense_Mutation_p.L266V|TMC6_ENST00000322914.3_Missense_Mutation_p.L266V|TMC6_ENST00000589553.1_Missense_Mutation_p.L39V|TMC6_ENST00000306591.7_Missense_Mutation_p.L266V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	266				L -> P (in Ref. 2; AAP69874).		endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGGCCACCAGCAGCAGCAGC	0.672000													3	46					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43596429	43596429	+	RNA	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr17:43596429C>T	ENST00000253803.2	+	0	267																											TCACTTTTTGCCGGTTTTGGC	0.488000													6	598					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502372	20502372	+	Silent	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr14:20502372G>A	ENST00000315693.2	-	1	547	c.546C>T	c.(544-546)ccC>ccT	p.P182P		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TAATCACAAGGGGAAGGTCAC	0.478000													45	82					0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34655231	34655231	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr9:34655231C>T	ENST00000555003.1	+	2	1373	c.17C>T	c.(16-18)tCa>tTa	p.S6L	GALT_ENST00000556278.1_Missense_Mutation_p.S150L|IL11RA_ENST00000441545.2_Missense_Mutation_p.S6L|IL11RA_ENST00000318041.9_Missense_Mutation_p.S6L|IL11RA_ENST00000378817.4_Missense_Mutation_p.S6L|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000602473.1_Missense_Mutation_p.S6L			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	6						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	AGCAGCTGCTCAGGGCTGAGC	0.632000													13	27					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72738392	72738392	+	Splice_Site	SNP	G	G	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr17:72738392G>T	ENST00000340415.3	+	3	1192		c.e3-1		RAB37_ENST00000392612.3_Splice_Site|RAB37_ENST00000392614.4_Splice_Site|RAB37_ENST00000402449.4_Splice_Site|RAB37_ENST00000392610.1_Splice_Site|RAB37_ENST00000392613.5_Splice_Site|RAB37_ENST00000392615.5_Splice_Site|RAB37_ENST00000528438.1_Splice_Site	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TTCTCTTTCAGAACAAGGTGG	0.582000													14	30					2.62699e-14	2.78915e-14	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71494387	71494387	+	Silent	SNP	T	T	C			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr5:71494387T>C	ENST00000296755.7	+	5	5503	c.5205T>C	c.(5203-5205)gcT>gcC	p.A1735A		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1735						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTCTTCTGCTCATACCCCTT	0.493000													5	148					0	0	1	0	0
CCNI	10983	broad.mit.edu	37	4	77969538	77969538	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr4:77969538C>T	ENST00000237654.4	-	7	1544	c.968G>A	c.(967-969)cGc>cAc	p.R323H	CCNI_ENST00000537948.1_Missense_Mutation_p.R309H	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	323					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						CTCTACTTTGCGTTTAGTAGA	0.468000													31	91					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187005004	187005004	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr4:187005004C>G	ENST00000296795.3	+	4	2268	c.2164C>G	c.(2164-2166)Ctc>Gtc	p.L722V	TLR3_ENST00000504367.1_Missense_Mutation_p.L445V	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATTGTACTTCTCATCCACTT	0.363000													39	134					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								7	70					0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52222879	52222879	+	Silent	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr19:52222879C>T	ENST00000540069.2	-	2	339	c.279G>A	c.(277-279)gcG>gcA	p.A93A	HAS1_ENST00000601714.1_Silent_p.A101A|HAS1_ENST00000222115.1_Silent_p.A94A			Q92839	HAS1_HUMAN	hyaluronan synthase 1	94					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCACACTGCGCGCGGTGGCTG	0.756000													3	2					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31676243	31676243	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chrX:31676243G>A	ENST00000357033.4	-	54	8097	c.7891C>T	c.(7891-7893)Cgc>Tgc	p.R2631C	DMD_ENST00000378707.3_Missense_Mutation_p.R171C|DMD_ENST00000378677.2_Missense_Mutation_p.R2627C|DMD_ENST00000343523.2_Missense_Mutation_p.R171C|DMD_ENST00000541735.1_Missense_Mutation_p.R171C|DMD_ENST00000474231.1_Missense_Mutation_p.R171C|DMD_ENST00000359836.1_Missense_Mutation_p.R171C	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2631					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCCACTGGCGGAGGTCTTTG	0.388000													17	77					0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82764168	82764168	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chrX:82764168G>A	ENST00000373200.2	+	1	900	c.836G>A	c.(835-837)cGc>cAc	p.R279H	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	279					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GGCCGCAAGCGCAAGAAGCGG	0.612000													14	39					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442566	37442566	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr10:37442566G>C	ENST00000374660.1	+	13	1705	c.1606G>C	c.(1606-1608)Gat>Cat	p.D536H	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D536H|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D536H			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	592						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAAGAAATAGATAAAATAAA	0.313000													26	89					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13949314	13949314	+	Missense_Mutation	SNP	C	C	G	rs74772438		TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr7:13949314C>G	ENST00000343495.5	-	10	1567	c.829G>C	c.(829-831)Gaa>Caa	p.E277Q	ETV1_ENST00000399357.3_Missense_Mutation_p.E192Q|ETV1_ENST00000405358.4_Missense_Mutation_p.E309Q|ETV1_ENST00000405218.2_Missense_Mutation_p.E295Q|ETV1_ENST00000420159.2_Missense_Mutation_p.E237Q|ETV1_ENST00000403685.1_Missense_Mutation_p.E277Q|ETV1_ENST00000430479.1_Missense_Mutation_p.E295Q|ETV1_ENST00000405192.2_Missense_Mutation_p.E272Q|ETV1_ENST00000403527.1_Missense_Mutation_p.E255Q|ETV1_ENST00000242066.5_Missense_Mutation_p.E277Q			P50549	ETV1_HUMAN	ets variant 1	295				Missing (in Ref. 5; AAC62435).	transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGGCCCTTTTCAAACATACAG	0.333000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								22	98					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	306028	306028	+	Missense_Mutation	SNP	C	C	T	rs151111165	byFrequency	TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr12:306028C>T	ENST00000428720.1	-	11	1839	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	SLC6A12_ENST00000397296.2_Missense_Mutation_p.A366T|SLC6A12_ENST00000536824.1_Missense_Mutation_p.A366T|SLC6A12_ENST00000424061.2_Missense_Mutation_p.A366T|SLC6A12_ENST00000359674.4_Missense_Mutation_p.A366T	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	366					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TTGGGGAAGGCGATGAAGGCC	0.582000													30	82					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr5:228396G>C	ENST00000264932.6	+	6	833	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q|SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	240			E -> Q (in dbSNP:rs1041946).		nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	p.E240Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418000									Familial Paragangliomas				4	124					0	0	1	0	0
RAB42	115273	broad.mit.edu	37	1	28920464	28920464	+	Silent	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr1:28920464C>T	ENST00000373826.3	+	2	459	c.153C>T	c.(151-153)tgC>tgT	p.C51C	RAB42_ENST00000465518.1_3'UTR|TAF12_ENST00000471683.1_Intron	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	51					small GTPase mediated signal transduction	membrane	GTP binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		AAAACAACTGCAATGTGGACC	0.622000													17	35					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187815	42187815	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr19:42187815G>T	ENST00000006724.3	-	3	808	c.607C>A	c.(607-609)Cta>Ata	p.L203I	CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.L203I	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	203	Ig-like C2-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)		GCGCTGAGTAGAACGAGGGTC	0.542000													15	291					2.32078e-09	2.43399e-09	1	1	0
SPOCK1	6695	broad.mit.edu	37	5	136315105	136315105	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr5:136315105G>T	ENST00000394945.1	-	10	1214	c.1045C>A	c.(1045-1047)Cac>Aac	p.H349N	SPOCK1_ENST00000282223.7_Missense_Mutation_p.H349N|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	349	Thyroglobulin type-1.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGCTGCCGTGGCACTGTGTG	0.532000													13	90					3.27435e-08	3.3927e-08	1	1	0
TSC22D2	9819	broad.mit.edu	37	3	150127150	150127150	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr3:150127150C>T	ENST00000361875.3	+	1	1029	c.13C>T	c.(13-15)Ccg>Tcg	p.P5S	TSC22D2_ENST00000361136.2_Missense_Mutation_p.P5S	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2								sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCCAAGATGCCGGCCAAGAA	0.637000													5	59					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842816	123842816	+	Silent	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr10:123842816G>A	ENST00000369005.1	+	4	1141	c.801G>A	c.(799-801)gaG>gaA	p.E267E	TACC2_ENST00000453444.2_Silent_p.E267E|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.E267E|TACC2_ENST00000515603.1_Silent_p.E267E|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.E267E	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	267						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGGTCTTGGAGAAGTCCCCCC	0.617000													32	134					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1403201	1403201	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr5:1403201C>T	ENST00000270349.9	-	13	1730	c.1603G>A	c.(1603-1605)Gtg>Atg	p.V535M	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V535M	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	535					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	ACCACGACCACGAACTGCAAC	0.632000													16	44					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388416	48388416	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr10:48388416G>A	ENST00000224600.4	-	1	2575	c.2462C>T	c.(2461-2463)aCg>aTg	p.T821M		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	821	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCACACCTCCGTGACTTTTGA	0.622000													4	35					0	0	1	0	0
ALG2	85365	broad.mit.edu	37	9	101984170	101984170	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr9:101984170C>T	ENST00000476832.1	-	1	68	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	3					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				CCCTGCTCCTCCGCCATGGCC	0.716000													11	19					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119685991	119685991	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr4:119685991G>T	ENST00000379735.5	-	10	1536	c.1265C>A	c.(1264-1266)tCt>tAt	p.S422Y	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.S421Y|SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000511481.1_Missense_Mutation_p.S52Y	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	421					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATATTCATAAGATCCTAGAGA	0.343000													44	56					1.47857e-17	1.60959e-17	1	1	0
TAF2	6873	broad.mit.edu	37	8	120843964	120843964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr8:120843964G>A	ENST00000378164.2	-	2	389	c.91C>T	c.(91-93)Cag>Tag	p.Q31*		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	31					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAGACGACCTGATGGGTTGta	0.244000													29	33					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110768679	110768679	+	Silent	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr1:110768679G>A	ENST00000369787.3	+	3	1725	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.P566P|KCNC4_ENST00000413138.3_Silent_p.P566P	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	566					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCTCCTCCCCGACCCCCGAGG	0.642000													40	79					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129070763	129070763	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr5:129070763G>A	ENST00000274487.4	+	22	3578	c.3433G>A	c.(3433-3435)Gag>Aag	p.E1145K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1145					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACCCTGCAATGAGAAAATTAA	0.368000													44	36					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50911992	50911992	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr19:50911992G>A	ENST00000595904.1	+	14	1804	c.1804G>A	c.(1804-1806)Gca>Aca	p.A602T	POLD1_ENST00000440232.2_Intron|POLD1_ENST00000599857.1_Intron			P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	592					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGCGGGGGCGGCATGGGAACT	0.607000								DNA polymerases (catalytic subunits)					4	131					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158485731	158485731	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr6:158485731C>A	ENST00000355585.4	+	10	1383	c.1308C>A	c.(1306-1308)caC>caA	p.H436Q	SYNJ2_ENST00000367122.2_Missense_Mutation_p.H436Q|SYNJ2_ENST00000367121.3_Missense_Mutation_p.H436Q|SYNJ2_ENST00000449859.2_Missense_Mutation_p.H364Q	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	436	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGAATGGCCACAGCCTGAGCA	0.627000													110	84					1.34337e-38	1.50038e-38	1	1	0
AUTS2	26053	broad.mit.edu	37	7	70229862	70229862	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr7:70229862A>C	ENST00000342771.4	+	8	1660	c.1339A>C	c.(1339-1341)Acc>Ccc	p.T447P	AUTS2_ENST00000406775.2_Missense_Mutation_p.T447P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	447										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		cttcacacccaccctccagcc	0.647000													4	20					0	0	1	0	0
RNF135	84282	broad.mit.edu	37	17	29325727	29325727	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr17:29325727G>A	ENST00000328381.5	+	5	1690	c.817G>A	c.(817-819)Gag>Aag	p.E273K	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	273	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				CTGCAGCCTGGAGGTGTCCAA	0.488000													60	106					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510997	169510997	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr1:169510997C>T	ENST00000367796.3	-	13	3547	c.3346G>A	c.(3346-3348)Gca>Aca	p.A1116T	F5_ENST00000367797.3_Missense_Mutation_p.A1111T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1111	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGACAGCTTGCCTGACCAGTG	0.478000													51	82					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206165371	206165371	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr2:206165371G>A	ENST00000406610.2	+	17	2510	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	PARD3B_ENST00000462231.1_Missense_Mutation_p.R768Q|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.R706Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.R768Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	768					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CACAGGCCCCGGCCGCACATG	0.522000													73	50					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799728	39799729	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr1:39799728_39799729delGA	ENST00000564288.1	+	37	8245_8246	c.7468_7469delGA	c.(7468-7470)gagfs	p.E2490fs	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Del_p.E2527fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Frame_Shift_Del_p.E2495fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.E930fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2495					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGTCTTTTGGAGAGAGAGGAG	0.411													97	215	---	---	---	---					
LOC728323	728323	broad.mit.edu	37	2	243037371	243037372	+	RNA	INS	-	-	T			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr2:243037371_243037372insT	ENST00000456398.1	+	0	310																											ATGCTTTTTTctttttttgtaa	0.332													2	4	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67591145	67591153	+	Splice_Site	DEL	TACTTGATG	TACTTGATG	-			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr5:67591145_67591153delTACTTGATG	ENST00000521381.1	+	13	2354_2361	c.1738_1745delTACTTGATG	c.(1738-1746)tacttgatg>g	p.YLM580del	PIK3R1_ENST00000274335.5_Splice_Site_p.YLM580del|PIK3R1_ENST00000523872.1_Splice_Site_p.YLM217del|PIK3R1_ENST00000396611.1_Splice_Site_p.YLM580del|PIK3R1_ENST00000320694.8_Splice_Site_p.YLM280del|PIK3R1_ENST00000336483.5_Splice_Site_p.YLM310del|PIK3R1_ENST00000521657.1_Splice_Site_p.YLM580del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	580					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.Y580fs*1(1)|p.R577_M582>K(1)|p.Q579_Y580insDK(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAGAGACCAATACTTGATGTAAGTATTTG	0.373			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			23	27	---	---	---	---					
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1																						cttagtttacagtgaaaacaa	0.522													3	3	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149527482	149527483	+	RNA	INS	-	-	C			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr7:149527482_149527483insC	ENST00000378016.2	+	0	15142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			tcctcctctgtccccccccaca	0.634													2	4	---	---	---	---					
GALNT16	57452	broad.mit.edu	37	14	69727142	69727147	+	In_Frame_Del	DEL	GAGGTC	GAGGTC	-			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr14:69727142_69727147delGAGGTC	ENST00000337827.4	+	1	462_467	c.135_140delGAGGTC	c.(133-141)aggaggtcg>agg	p.RS46del	GALNT16_ENST00000448469.3_In_Frame_Del_p.RS46del|RP11-363J20.2_ENST00000556316.1_lincRNA|GALNT16_ENST00000553669.1_In_Frame_Del_p.RS46del	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GGGCAGGCAGGAGGTCGGAGCAGCTC	0.704													4	6	---	---	---	---					
RP3-414A15.10	0	broad.mit.edu	37	14	74098164	74098165	+	RNA	INS	-	-	TGT	rs76037381	by1000genomes	TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr14:74098164_74098165insTGT	ENST00000555011.1	-	0	118				RP3-414A15.10_ENST00000555500.1_RNA																							ATTTGAAAAAATGTAGTAGGTG	0.569													4	2	---	---	---	---					
INF2	64423	broad.mit.edu	37	14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr14:105174270_105174271insG	ENST00000392634.4	+	8	1778_1779	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.R556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	556	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663													8	182	---	---	---	---					
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	RNA	DEL	T	T	-	rs113703393		TCGA-FD-A5BY-01A-31D-A289-08	TCGA-FD-A5BY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353dc452-f46f-4f6b-b44a-2f1dc1b89086	fb536a3e-a051-46af-b9fc-b649a8ac58f2	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													3	4	---	---	---	---